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Chemotherapy External Beam Radiation Therapy (EBRT) Head and Neck Cancer Nasal Squamous Cell Carcinoma Orbital exenteration Patient Stories Proton therapy Radiation Therapy Reconstruction Surgery Treatments

Young Mom Melanie’s Stage 4 Nasal Squamous Cell Cancer

Facing Cancer as a Young Mom: Melanie’s Stage 4 Nasal Squamous Cell Carcinoma Story

Despite the excitement of expecting her first child, Melanie faced a life-altering diagnosis at 30 weeks pregnant: nasal squamous cell carcinoma. Her symptoms began subtly, with nosebleeds, sinus pressure, and congestion, all of which she attributed to pregnancy. However, when Melanie’s left eye started to protrude, she sought medical attention. An ENT attempted to examine her nasal cavity but found a mass blocking the scope. Urged to seek emergency care, she underwent an MRI and biopsy, confirming the presence of cancer.

Interviewed by: Nikki Murphy
Edited by: Katrina Villareal

The stage 4 nasal squamous cell carcinoma diagnosis brought overwhelming fear and uncertainty. Melanie worried about being there for her child and the possibility of someone else raising her. She had to make treatment decisions quickly. Because the tumor had grown into critical areas, immediate surgery was not an option. Instead, doctors recommended chemotherapy, which she would begin after giving birth. Melanie’s hopes for a natural birth shifted when complications led to an emergency C-section. The moment her daughter was born brought a mix of relief and profound love. She held her baby for a day before beginning chemotherapy in the hospital.

Melanie S. feature profile

Chemotherapy provided initial success, shrinking the tumor in her nasal cavity and allowing Melanie to breathe more easily. However, the tumor in her eye orbit remained unchanged due to poor blood flow in that area. With no clear margins for radiation, doctors advised surgical removal of her left eye and surrounding structures before proceeding with further treatment. The first surgery replaced lost tissue using a skin flap from her arm, followed by radiation therapy. Radiation, unexpectedly, was more physically challenging than chemotherapy, leaving her exhausted and struggling to eat. Despite this, she avoided a feeding tube and completed treatment.

Beyond the physical toll, cancer reshaped Melanie’s mental and emotional well-being. The loss of breastfeeding and the shift in parental roles meant that her husband had to take on responsibilities that they hadn’t anticipated. He became the primary caregiver, ensuring she had the rest needed for recovery. Melanie found solace in therapy, initially struggling to connect with traditional therapists who lacked medical experience. A hospital-based therapist and support groups provided better understanding, though finding peers in similar circumstances proved difficult due to her young age.

Motherhood took an unexpected form, but Melanie embraced every moment with gratitude. Nasal squamous cell carcinoma altered her body, but she is focused on regaining strength and adjusting to her new normal. Regular check-ups and hyperbaric oxygen therapy support her ongoing healing. Though life will be different, Melanie remains hopeful, emphasizing that even in the darkest moments, happiness can be found. Her experience underscores the importance of mental health support, a strong community, and finding purpose beyond the diagnosis.


  • Name: Melanie S.
  • Diagnosis:
    • Nasal Squamous Cell Carcinoma
  • Staging:
    • Stage 4
  • Mutation:
    • p16 positive (HPV-related)
  • Symptoms:
    • Nosebleeds
    • Sinus pressure
    • Congestion
    • Eye protrusion
  • Treatments:
    • Chemotherapy
    • Surgeries: orbital exenteration (left eye removal) & reconstructive flap surgery
    • Radiation therapy: external beam radiation therapy & proton therapy
    • Hyperbaric oxygen therapy
Melanie S.
Melanie S.
Melanie S.
Melanie S.
Melanie S.
Melanie S.
Melanie S.

This interview has been edited for clarity and length. This is not medical advice. Please consult with your healthcare provider to make informed treatment decisions.

The views and opinions expressed in this interview do not necessarily reflect those of The Patient Story.


Melanie S. feature profile
Thank you for sharing your story, Melanie!

Inspired by Melanie's story?

Share your story, too!


More Head and Neck Cancer Stories

Alyssa N. feature profile

Alyssa N., Adenoid Cystic Carcinoma



Symptoms: Persistent jaw pain, lightning-like facial pain during the first bite of meals

Treatments: Surgery (tumor removal), radiation
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Eva G. feature profile

Eva G., Oral Cancer, Stage 4



Symptoms: Sore on the tongue, which caused pain during eating and speaking; changes in the color and texture of the tissue where the sore was located
Treatments: Surgery (partial glossectomy, radical neck dissection, reconstruction), radiation
...
Kandi B.

Kandi B., Adenoid Cystic Carcinoma, Stage 3



Symptoms: Fatigue, headaches, depression, occasional feeling of tongue being on fire or inflamed, appearance of tumor on salivary gland on tongue

Treatment: Surgery
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Larry W. stage 4 neck cancer

Larry W., Neck Cancer (Malignant Neoplasm of the Neck), Stage 4



Symptom: Lumps on the right side of the neck

Treatments: Surgery (tonsillectomy, lymphadenectomy), chemotherapy, radiation, clinical trial

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Michael W., Squamous Cell Head and Neck Cancer, Stage 4



Symptom: None; caught at routine neck CT scan

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Categories
Chemotherapy Immunotherapy Myxofibrosarcoma Patient Stories Sarcoma Soft Tissue Sarcoma Treatments

A Second Opinion Changed Joel’s Grade 2 Myxofibrosarcoma Treatment Plan

Why Getting a Second Opinion Changed Joel’s Grade 2 Myxofibrosarcoma Treatment Plan

Joel has always valued family, faith, and community. Married for 31 years with a daughter and several foster children, he never imagined cancer would be part of his life. However, in a life-changing moment, in December 2024, at age 57, he was diagnosed with a grade 2 myxofibrosarcoma, a rare soft tissue cancer.

Interviewed by: Nikki Murphy
Edited by: Katrina Villareal

A small lump on his shin seemed minor at first, and he initially dismissed it as a fatty growth. However, over several months, it grew larger, prompting him to visit his doctor. As a precaution, though the doctor believed it was likely benign, they ordered tests to rule out any serious issues. An ultrasound came back inconclusive, leading to an MRI, which heightened concerns. Seeking a second opinion, Joel consulted a friend who connected him with a sarcoma specialist at the University of Iowa. Within hours, Joel received a call confirming that he had myxofibrosarcoma.

Joel S. feature profile

The uncertainty of his diagnosis was overwhelming. Not knowing whether he had months or years left to live was a heavy burden. However, after a biopsy confirmed it was grade 2 myxofibrosarcoma and contained, he felt a sense of relief. His doctor reassured him that they could treat his condition and manage it if it recurred.

Joel’s grade 2 myxofibrosarcoma treatment plan consists of radiation therapy, which he undergoes daily for a few minutes. Though he hasn’t experienced significant side effects yet, doctors have advised him that he may develop skin irritation in later weeks. After radiation, surgeons will remove the tumor and perform a skin graft and muscle repositioning to help the area heal properly.

Despite these medical interventions, Joel remains physically strong, continuing his workouts and daily routine without pain. Emotionally, Joel finds strength in his faith, family, and supportive community. His wife has been his rock and his close-knit group of friends offers him unwavering encouragement. His belief in God provides reassurance, removing the fear of death and allowing him to focus on living fully.

Beyond his experience with grade 2 myxofibrosarcoma, Joel emphasizes the importance of seeking medical advice early, especially for men who often downplay health concerns. He considers how his initial reluctance to get checked could have caused worse outcomes. Now, he encourages others to listen to their bodies and take proactive steps.

His outlook on life has shifted, centering on gratitude and using his experience to uplift others. He firmly believes in leveraging crises to bring awareness, comfort, and inspiration to those in need, rather than letting them go to waste. Instead of letting cancer define him, Joel is choosing to make a difference, reminding others that hope and purpose can thrive even in the face of adversity.


  • Name: 
    • Joel S.
  • Age at Diagnosis:
    • 57
  • Diagnosis:
    • Myxofibrosarcoma
  • Grade:
    • Grade 2
  • Symptom:
    • Lump on shin (gradual growth over several months)
  • Treatments:
    • Radiation therapy
    • Surgery: tumor removal & reconstruction of affected area
Joel S.
Joel S.
Joel S.

This interview has been edited for clarity and length. This is not medical advice. Please consult with your healthcare provider to make informed treatment decisions.

The views and opinions expressed in this interview do not necessarily reflect those of The Patient Story.


Joel S. feature profile
Thank you for sharing your story, Joel!

Inspired by Joel's story?

Share your story, too!


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Ashley W., Desmoid Tumor



Symptoms: Leg tightness, increased swelling in leg
Treatments: Chemotherapy infusion (Methotrexate, Navelbene), oral chemotherapy (Nexovar)
...

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Symptoms: Fatigue, lump in hip
Treatments: Surgery, radiation, chemotherapy
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Alicia B., Desmoid Tumor, Stage 4



Symptom: Lump in right armpit
Treatments: Chemotherapy, radiation, targeted therapy, clinical trials, surgery, including forequarter amputation
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Ariane B., Ewing Sarcoma (Bone)



Symptoms: Aching in arm, lump in forearm
Treatments: Chemotherapy (14 rounds), surgery (of radius), radiation (36 sessions)
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Brandi B., Ewing Sarcoma (Soft Tissue), Stage 1B



Symptoms: Extreme fatigue, lump in pelvic area
Treatments: 17 cycles of chemotherapy in-patient at hospital with (leg-sparing) surgery in between
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Louis D., Gastrointestinal Stromal Tumor (GIST)



Symptom: Feeling the need for constant urination
Treatments: Surgery to take out the tumor, maintenance chemotherapy (3 years)
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Kara L., Synovial Sarcoma, Stage 1B



Symptoms: Pain behind left knee, needle-like sensation in left foot
Treatments: Surgery to remove what was thought to be benign tumor, chemotherapy, final surgery, radiation (36 sessions)
...

Jillian J., Synovial Sarcoma, Stage 3



Symptom: Pain in leg for over 15 years
Treatments: Surgeries (tumor resection, thoracotomy)
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Marisa C. feature profile

Marisa C., Synovial Sarcoma, Stage 4



Symptom: Small bump on the foot (stable for years, then grew during pregnancy), pain when pressed

Treatments: Surgeries (below-knee amputation, pulmonary wedge resections, segmentectomy), chemotherapy, radiation (lungs & hip)
...
Julie K. stage 4 synovial sarcoma

Julie K., High-Grade Poorly Differentiated Spindle Cell Synovial Sarcoma, Stage 4



Symptoms: Chest and back pain after car accident, trouble breathing

Treatments: Chemotherapy, surgeries (lung resection, video-assisted thoracoscopic surgery or VATS, neurectomy, rib removal), radiation therapy (CyberKnife)

...
Monica

Monica H., IDC, Stage 2B & Undifferentiated Pleomorphic Sarcoma



Symptoms: Tightness and lump in left breast
Treatments: Chemotherapy, radiation, surgery

Nicole B., Undifferentiated Pleomorphic Sarcoma, Stage 3



Symptoms: Severe intolerance to food, nausea
Treatments: Surgeries (cholecystectomy, Whipple), chemotherapy (Gemcitabine and Taxotere)

Categories
Non-Hodgkin Lymphoma Patient Events Waldenström’s Macroglobulinemia

Waldenström’s Macroglobulinemia: Community Care & Clinical Trials

Navigating Waldenström’s: Getting the Best Care Close to Home

Unlock Better Waldenström’s Care – Right in Your Community!

Waldenström macroglobulinemia (WM) patient advocate Pete DeNardis, expert hematologist Dr. Hussam Eltoukhy, and practice administrator Maria Lamantia discuss the latest in community-based cancer care, personalized treatment options, and effective communication strategies.

Whether you’re newly diagnosed with WM or managing ongoing treatment, learn how to optimize your care, navigate “watch and wait,” and access clinical trials without leaving your local support network.

Navigating Waldenströms: Getting the Best Care Close to Home
Hosted by The Patient Story
Join WM patient advocate Pete DeNardis and expert hematologist Dr. Hussam Eltoukhy as they discuss the latest in community-based cancer care, personalized treatment options, and effective communication strategies.
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Effective Community Cancer Care: Learn how local treatment options can be both effective and personalized for Waldenström’s patients.

Navigating Watch and Wait: Get emotional and practical support for managing the uncertainties of the “watch and wait” approach.

Advocate for Better Care: Discover communication strategies to ensure you’re getting the best care from your local oncologist.

Latest Treatment Options: Understand new therapies and clinical trials that are available even in community settings.

Access to Specialized Care: Find out how collaboration with larger cancer centers can enhance your treatment journey.


LLS
IWMF logo

We would like to thank The Leukemia & Lymphoma Society and the International Waldenström’s Macroglobulinemia Foundation for their partnership.

This interview has been edited for clarity and length. This is not medical advice. Please consult with your healthcare provider for treatment decisions.


Pharmacyclics

Thank you to Pharmacyclics, an AbbVie company, for its support of our patient education program. The Patient Story retains full editorial control over all content.


Edited by: Katrina Villareal


Introduction

Stephanie Chuang: We know most Americans are getting their cancer care at their local hospital or clinic and not at the large academic institutions, maybe not regularly or not even at all. But you may also hear that for blood cancers like Waldenström’s, it’s important to see a specialist. What does this mean and how can patients and their care partners successfully get the best care?

I’m the founder of The Patient Story. I was diagnosed with a different kind of non-Hodgkin lymphoma, diffuse large B-cell lymphoma. When I was getting my 600-plus hours of chemoimmunotherapy, the idea came up: how can we help cancer patients and care partners navigate life at and after diagnosis? That’s what The Patient Story focuses on.

We aim to build community through in-depth patient stories. We reach millions of people every month. We build educational discussions in collaboration with amazing partners, like The Leukemia & Lymphoma Society (LLS) and the International Waldenström’s Macroglobulinemia Foundation (IWMF).

The LLS offers free resources like its Information Specialists, who are one free call away for support in different areas of blood cancer. The IWMF offers many support resources specifically for the Waldenström’s community, including dozens of in-person support groups around the world in addition to so many that are happening online.

Stephanie Chuang

We also want to thank our sponsor, Pharmacyclics, an AbbVie company, for its support, which truly helps us to host more of these programs for free to our audience. I want to stress that The Patient Story retains full editorial control over all content as always. While we hope that this is helpful, keep in mind this is not a substitute for medical advice, so still consult with your own team about your decisions.

This is sure to be an incredible discussion led by friend of The Patient Story and long-time advocate with the IWMF, Pete DeNardis.

Pete DeNardis

Pete DeNardis: I’m chair emeritus of the International Waldenström’s Macroglobulinemia Foundation and a long-time volunteer for the organization. I’m a patient myself, was diagnosed in October 2003, and have had multiple periods of treatment and watch-and-wait status over the years. My treatment has included chemotherapy, radiation, monoclonal antibodies, and targeted therapies. Most recently, my WM has been behaving itself.

I live in Pennsylvania and my care is directed by a hematologist at a cancer teaching hospital. Over the years, I have had overnight stays in a university-based hospital and at local community hospitals in emergency situations. I will be joined by Dr. Hussam Eltoukhy and Maria Lamantia.

Navigating Waldenstroms - Getting the Best Care Close to Home

Dr. Hussam Eltoukhy: I’m a clinical assistant professor with RWJBarnabas Health and the Rutgers Cancer Institute of New Jersey. I’m a hematologist specializing in blood cancers.

My role is interesting. I work out of a community-based setting but in close partnership with our academic center, the Rutgers Cancer Institute, which gives me a very different perspective on treating patients. I have many patients with Waldenström’s and other conditions, and I’m thankful to be here to talk more about that.

Dr. Hussam Eltoukhy
Navigating Waldenstroms - Getting the Best Care Close to Home
Maria Lamantia

Maria Lamantia: I’m so happy to work alongside Dr. Eltoukhy. We work together as a team. We have a wonderful staff and we treat our patients like family. Working alongside Dr. Eltoukhy, I see him take the time with his patients to answer all of their questions. We treat them emotionally and physically, so we need to treat them as a whole.

Pete: That’s fantastic. Patients need to have a good relationship with their healthcare professionals, especially for people with rare cancers like Waldenström’s, and to have a very caring and a very productive relationship. It sounds like you’re doing a fantastic job.

Navigating Waldenstroms - Getting the Best Care Close to Home

The Most Common First Symptoms of Waldenström’s

Pete: We want to get your perspective on how you approach Waldenström’s patients. Dr. Eltoukhy, can you describe the typical diagnostic journey for a patient with WM? What are the initial symptoms you usually see? Do you run certain tests when a patient comes in?

Navigating Waldenstroms - Getting the Best Care Close to Home

Dr. Eltoukhy: The diagnostic journey for a patient with Waldenström’s often can be prolonged because the initial symptoms are quite nonspecific and can mimic other conditions. The most common symptoms patients report are fatigue and weakness, which are most often due to anemia. Some patients may also experience unintentional weight loss, night sweats, and peripheral neuropathy, which presents as numbness or tingling in the hands and feet. In more advanced cases, symptoms related to hyperviscosity, like headaches, blurred vision, dizziness, or even nosebleeds may develop.

Navigating Waldenstroms - Getting the Best Care Close to Home

Common Steps to Diagnose Waldenström’s

Dr. Eltoukhy: The diagnostic approach typically starts with a thorough history and physical exam, which is critical for identifying patterns of symptoms and any physical signs, like enlarged lymph nodes or spleen. From there, blood tests are usually the first step. A complete blood count might show anemia and serum protein electrophoresis can detect a monoclonal IgM protein, which is characteristic of Waldenström’s. Further testing with immunofixation and serum viscosity levels can provide more details.

Navigating Waldenstroms - Getting the Best Care Close to Home

Once Waldenström’s is suspected, a bone marrow biopsy is essential to confirm the diagnosis. It will show the infiltration of lymphoplasmacytic cells. The bone marrow can be tested for other things, like the MYD88 mutation, which is present in over 90% of Waldenström’s cases. Imaging studies like CT scans can be useful in assessing lymph node or organ involvement.

Navigating Waldenstroms - Getting the Best Care Close to Home

Diagnosing Waldenström’s requires piecing together clinical signs, lab results, and histologic findings. Because the symptoms can be subtle or overlap with other conditions, taking a comprehensive history and performing a thorough physical exam is foundational in guiding the diagnostic workup.

Navigating Waldenstroms - Getting the Best Care Close to Home

How to Communicate with Your Primary Care Physician the Need to See a Specialist

Pete: I can tell by your response that you have a lot of experience with Waldenström’s patients. You’re hitting all the high notes and the critical aspects of diagnosing someone with Waldenström’s. Sometimes the symptoms manifest over a longer time.

I had classic symptoms, but I didn’t realize it then. I kept on thinking it was something else and waited a long time before I saw my doctor. How can a patient best communicate their concerns to their primary care physician to ensure a timely referral to a specialist? How do we get people to understand that we should take this to the next level in terms of testing and analysis of what’s going on?

If something feels off… it’s crucial to report these symptoms accurately and thoroughly.

Dr. Hussam Eltoukhy

Dr. Eltoukhy: Interestingly, that happens a lot. When it comes to ensuring a timely referral to a specialist, one of the most important things patients can do is to be clear and proactive in communicating their concerns. First and foremost, patients should be their own advocates. If something feels off — like you’re having persistent fatigue, unexplained weight loss, night sweats, or any unusual symptoms such as numbness or frequent infections — it’s crucial to report these symptoms accurately and thoroughly. Even if the symptoms seem minor or unrelated, sharing the full picture helps the physician connect the dots.

Navigating Waldenstroms - Getting the Best Care Close to Home

It’s also helpful for patients to record their symptoms: noting when they started, how often they occur, and whether they’re getting worse over time. This level of detail provides valuable context that can prompt a physician to dig deeper and consider a hematologic cause like Waldenström’s.

Navigating Waldenstroms - Getting the Best Care Close to Home

In addition, there should be no hesitation to express concerns directly. If they feel their symptoms are not improving or are being overlooked, it’s perfectly appropriate to ask, “Could this be something more serious? Do you think I should see a specialist?” Open and honest communication ensures the primary care physician fully understands the patient’s level of concern and can make an informed decision about referring them to a hematologist. Ultimately, while I know that physicians play a key role in guiding care, patients who actively engage in the process and advocate for themselves help ensure timely, appropriate evaluations.

Navigating Waldenstroms - Getting the Best Care Close to Home

Deciding Whether to Go to an Academic/Research Center or Community Hospital

Pete: In many cases, an important aspect of receiving treatment is where you get treatment. Of course, what determines that could be where you’re located and what type of services are available to you. This brings up the conversation of cancer care in a community setting or a suburban/rural setting. What’s the difference between a community hospital versus an academic center or a cancer hospital? How can people best understand the difference between them? If it does make a difference, how do they know which one to go to?

Dr. Eltoukhy: When we talk about cancer care in general, especially for rare diseases like Waldenström’s, the setting where a patient receives treatment can be as important as the treatment itself. Broadly speaking, there are key differences between community hospitals and academic medical centers or more specialized cancer centers.

Navigating Waldenstroms - Getting the Best Care Close to Home

By design, community hospitals are designed to provide general health care services to the local population. They offer a wide range of medical care, from routine checkups to managing common conditions and even some cancers. The care teams in these settings are skilled at treating a broad spectrum of diseases. For patients with more common or straightforward cases, community hospitals are convenient and provide excellent care close to home. Accessibility is a big advantage because patients don’t have to travel far. They also often have a more personalized relationship with their care team.

Navigating Waldenstroms - Getting the Best Care Close to Home

On the other hand, academic medical centers and specialized cancer hospitals focus heavily on research, teaching, and clinical trials, so these centers are often affiliated with medical schools and are involved in clinical trials, so they’re at the forefront of new treatments and therapies. Patients treated at these centers may have access to novel therapies that aren’t widely available in the community setting. Additionally, these institutions have multidisciplinary teams, which include hematologists, pathologists, and other specialists who focus specifically on rare cancers providing a more specialized approach.

Navigating Waldenstroms - Getting the Best Care Close to Home

In terms of the patient population, your typical community hospital will manage more common cancers and straightforward cases, while academic centers are more in tune to see more complex, rare, or treatment-resistant cases. However, this does not mean that community hospitals cannot manage diseases like Waldenström’s effectively. Many do, such as ours, especially with proper collaboration and referral pathways.

Navigating Waldenstroms - Getting the Best Care Close to Home

Ultimately, the best approach may involve a balance between the two settings. Patients might receive specialized consultation at an academic center while continuing their routine care and follow-ups in the community, ensuring both accessibility and cutting-edge treatment options.

Stephanie: Dr. Eltoukhy, I want to jump in very quickly as we have two patient perspectives about how they were able to figure out the best Waldenström’s care for themselves. Annmarie was diagnosed a few years ago and heard right away to see a specialist. Bob, on the other hand, was diagnosed in 1997, which was a very different time, and says the IWMF was instrumental in helping him link between a local care team and a specialist. Bob, what was it like trying to figure out your care almost three decades ago?

Bob B.: First of all, my local oncologist didn’t know about how I should be treated. With IWMF, we were able to get Arnie’s advice. There was some research going on at Scripps, MD Anderson, Lombardi Comprehensive Cancer Center, Mayo Clinic, and a couple of others. We visited a few places to go through the discovery of what might seem to make the most sense to be treated, bring that information back to my local oncologist, and allow him to be my quarterback.

Annmarie S.: If you’re lucky enough to go to a place with specialized care, that’s crucial in terms of them understanding the disease, diagnosis, different treatments, what future treatments can look like, research, and all the positivity that comes along with that. What’s challenging with Waldenström’s is general practitioners and hematologists don’t understand what it’s all about in terms of care and the next level of getting treatment, so they look at it more broadly as a cancer.

Navigating Waldenstroms - Getting the Best Care Close to Home

When you go to the next level and get a Waldenström’s specialist, they treat it more as disease management if you will. A lot of times, people cannot do that. Sometimes people are comfortable with the practitioner that they have. Utilize a facility that treats Waldenström’s and if you have to use your primary care physician or a general hematologist, have a Waldenström’s team as part of your overall treatment plan.

The Biggest Challenge for Waldenström’s Patients Who Get Community Care

Pete: In my situation, I go to a local university-based hospital because it’s as convenient as going to a community hospital. My condition is a little unusual even among rare cancer patients. What would you consider is the biggest challenge to providing cancer care in a local community setting, like in a rural setting?

Dr. Eltoukhy: One of the biggest challenges in providing cancer care in the local community setting comes down to the availability of resources. It’s not about the knowledge or expertise. We have highly skilled specialists dedicated to treating complex conditions like Waldenström’s. The challenge lies more in the infrastructure and support systems compared to larger cancer centers.

Navigating Waldenstroms - Getting the Best Care Close to Home

For example, while I can offer phase 2 and 3 clinical trials in my community practice, phase 1 trials, which are often the first step in introducing new therapies, typically require more specialized resources and are more readily available at larger academic or dedicated cancer centers. This includes specialized monitoring, regulatory oversight, and more intensive support systems.

Another significant factor is personnel. Larger cancer centers tend to have extensive multidisciplinary teams with dedicated staff for clinical trials, patient navigation, and supportive care services. In the community setting, we operate with leaner teams, so it can be more challenging to coordinate the logistics of complex care or get patients enrolled in trials as quickly as we’d like.

One of the biggest challenges in providing cancer care in the local community setting comes down to the availability of resources… It’s not that care is any less thorough, but the resources to streamline and support those processes are more limited.

Dr. Hussam Eltoukhy

It’s not that care is any less thorough, but the resources to streamline and support those processes are more limited. That said, working closely with the cancer center, as I do, helps bridge some of those gaps. We can offer high-quality, specialized care locally while collaborating with larger institutions to ensure patients have access to the full spectrum of treatment options when needed. The goal is always to deliver the best possible care, whether it’s in the community or at a specialized center.

Pete: That’s great. I like how you touched on clinical trials. We try to encourage patients in the Waldenström’s macroglobulinemia community to seek out clinical trials whenever they can. It’s good to know that even in a community hospital setting, patients can participate in a clinical trial.

Navigating Waldenstroms - Getting the Best Care Close to Home

Referring Waldenström’s Patients to an Academic Center

Pete: From a community setting, collaboration is important with larger hospitals when the need arises. Are there circumstances where you refer your patients to a larger center or to another hospital setting where there are more people with more extensive knowledge or more facilities that can tend to their particular circumstances?

Dr. Eltoukhy: Yes. As a blood cancer specialist practicing in a community setting, I feel fully confident managing a wide range of hematological malignancies, including Waldenström’s. My knowledge and expertise are not limiting factors when it comes to providing high-quality care for these patients. However, collaboration with our main cancer center and other academic institutions is vital to ensuring patients have access to the full spectrum of treatment options when needed.

Navigating Waldenstroms - Getting the Best Care Close to Home

Typically, there are two main circumstances where I would refer a patient to a larger center. The first is when additional resources or specialized support are necessary. For example, if there’s a clinical trial, particularly an early phase trial, that could offer a promising new therapy not available in our community setting, I would absolutely refer a patient to take advantage of that opportunity. While we do offer phase 2 and 3 trials locally, phase 1 trials are very specialized research protocols usually housed in these larger academic centers with the infrastructure to support them.

The second scenario involves treatments that require specialized procedures we don’t currently offer at our center. While this isn’t specific to Waldenström’s, right now, therapies like bone marrow transplants or CAR T-cell therapy are examples of advanced treatments that require more dedicated facilities and more specialized teams with highly specific protocols. These are scenarios where I would refer to the academic center.

Referrals are part of a collaborative approach… This partnership allows patients to receive cutting-edge treatments without losing the personalized, accessible care they value in the community.

Dr. Hussam Eltoukhy

That said, these referrals are part of a collaborative approach, so even when a patient is referred out for a specific treatment or trial, I remain closely involved in their care, coordinating with the academic center to ensure a smooth transition and continuity of care when they return to the community setting for a follow-up. This partnership allows patients to receive cutting-edge treatments without losing the personalized, accessible care they value in the community.

Navigating Waldenstroms - Getting the Best Care Close to Home

Referring Waldenström’s Patients to Another Specialist for a Second Opinion

Pete: In line with that, the IWMF provides a list of several dozens of doctors who are considered second-opinion doctors because perhaps they work at an institution that focuses solely on Waldenström’s, like Dana-Farber Cancer Institute or Mayo Clinic. Have you ever referred a patient for a second opinion because their situation is so unusual? And is that a common practice?

Dr. Eltoukhy: Yes, that is. Typically in the community, a lot of oncologists would be what we consider generalists, which means they treat a lot of different conditions. The referral basis for these doctors would be a lot more than me. Being a blood cancer specialist, while I don’t do it as often as I would if I was a generalist, I absolutely do on a regular basis. These come back to the patients who are treatment-resistant or unusual cases when we send out pathology and the pathology comes back blurring the lines between two different diseases, which happens quite often in blood cancers.

In our center at least, I collaborate very closely with the Rutgers Cancer Institute. We have combined tumor boards and I will refer patients. For most patients, first-line treatment will be the standard of care. No matter where you go, there’s somewhat of an agreement about what the standard of care would be.

Navigating Waldenstroms - Getting the Best Care Close to Home

Once you get to the second, third, fourth, fifth, and so on lines of treatment, that’s when I in the community setting or other doctors in an academic center usually go to other colleagues to get their opinion. Seeing me in the community doesn’t mean you don’t get the opinions of the other doctors in the academic center. I’m always presenting on these two boards, sharing the cases, and getting other doctors opinions. This shouldn’t be an ego thing. It’s more about giving the best care possible to the patients.

Pete: I can tell by your responses that you obviously are a doctor who has the needs and the health of the patient as the number one priority and I commend you for that.

Navigating Waldenstroms - Getting the Best Care Close to Home

What Waldenström’s Patients Should Consider in Choosing a Community Hospital or Provider

Pete: For patients who don’t require specialized care, can you describe how going to a community hospital could be in their best interest and benefit them?

Dr. Eltoukhy: There is a common misconception that community cancer care isn’t as high quality as what you’d find at a larger academic center, but that’s simply not true. For many patients who don’t require highly specialized treatments, receiving care in a community setting can offer distinct advantages without compromising the quality of care.

First and foremost, being treated closer to home means patients are in a familiar environment surrounded by their support system, such as family, friends, and their local community. That comfort can play a huge role in how patients cope with a cancer diagnosis and treatment. It feels like you’re in your own backyard, which can make the entire experience less overwhelming. But it’s not just about convenience.

Navigating Waldenstroms - Getting the Best Care Close to Home

Our community cancer center is equipped with a multidisciplinary team, which is essential for providing comprehensive care. We have radiation oncologists, surgical oncologists, pathologists, radiologists, and medical hematologist-oncologists all working together. We regularly hold tumor boards where complex cases are discussed collaboratively, ensuring that multiple expert opinions shape each patient’s care plan.

Navigating Waldenstroms - Getting the Best Care Close to Home

For disease sites where we may not have a dedicated tumor board locally, we seamlessly collaborate with our main cancer center to ensure every patient benefits from the collective expertise. Even though patients are receiving care in a local familiar setting, they’re still getting the benefit of a specialized collaborative treatment. It’s not one doctor in isolation. It’s a coordinated team effort to provide the best possible outcomes. For many patients, this combination of high-quality care and the comfort of being treated closer to home is honestly the ideal scenario.

Navigating Waldenstroms - Getting the Best Care Close to Home

Maria: We offer also procedures in the clinic setting for those who are a little frightened to be in a hospital setting, like bone marrow biopsies. We have very skilled, qualified staff to assist Dr. Eltoukhy and we’re able to do those right in an office setting, which is helpful for patients who have that fear of going to the hospital.

We’re conveniently located right on the same campus as the Community Medical Center, so knowing that the hospital is close by is very comforting and convenient for our patients. The building that we’re in is comprised of oncology-based physicians, so it’s a one-stop shop as well and all of the doctors collaborate with Dr. Eltoukhy.

Pete: It’s great. That does sound like you have an ideal environment.

Navigating Waldenstroms - Getting the Best Care Close to Home

Financial Benefit of Going to a Community Provider

Pete: No offense, but people tend to think less of a community-based hospital when you’re providing the same quality of care as if they went directly to a university-based hospital. But then on the flip side, is there a cost savings for the patient for going the community-based hospital route? They’re getting the same standard of care, but is it more affordable for certain patients to do that?

Dr. Eltoukhy: I do think so. Care at a community hospital can be often more affordable and accessible for patients and that’s an important factor when considering treatment options. One of the biggest advantages is the reduced financial burden related to travel and lodging. When patients are treated closer to home, they don’t have to worry about the added expense of traveling long distances, taking extended time off work, or even arranging accommodations closer to a larger academic center. This alone can make a significant difference, especially for patients undergoing long-term treatments, such as patients who have Waldenström’s.

Navigating Waldenstroms - Getting the Best Care Close to Home

From a healthcare cost perspective, community hospitals can also offer more cost-effective care without compromising quality. Administrative and operational costs tend to be lower in the community setting and that can translate into lower out-of-pocket expenses for patients. Additionally, treatments and services provided locally often come with fewer facility fees compared to larger institutions.

Another important factor to consider is insurance coverage. Community hospitals are typically well-integrated with the local insurance networks, which makes it easier for patients to access care that is covered under their plan. This can help minimize unexpected medical bills or any out-of-network charges that might arise when seeking treatment at larger, more specialized centers.

From a healthcare cost perspective, community hospitals can also offer more cost-effective care without compromising quality.

Dr. Hussam Eltoukhy

Ultimately, by offering high-quality comprehensive care in a local setting, community hospitals provide patients with financial and logistical advantages, and this accessibility ensures that patients can focus on their treatment and recovery without the added extra stress of significant financial strain.

Navigating Waldenstroms - Getting the Best Care Close to Home

Pete: I was having significant issues early on. Because of my insurance and health situation, I had to decide whether I should go out of state for the next level of care to resolve my issues at the time. Fortunately, what’s in place is if it becomes serious enough, you have a very good support network in your local community hospital, but you can reach out for a second opinion to centers of excellence and that’s important for people to understand. You don’t have to travel, especially if you can’t do it physically because of your health situation. The resources are there. You just have to work with your medical staff and coordinate that.

Navigating Waldenstroms - Getting the Best Care Close to Home

Monitoring Waldenström’s Patients on Watch and Wait

Pete: From your perspective and your experience, what are key considerations in monitoring disease activity for patients who are on a watch-and-wait status? How often do you follow up with them? What do you typically do in your practice?

Dr. Eltoukhy: For patients with Waldenström’s who are on a watch-and-wait approach, regular monitoring is essential. This strategy is common because many patients are asymptomatic at diagnosis or have very slowly progressive disease. This disease usually doesn’t require immediate treatment. However, just because treatment isn’t starting right away doesn’t mean the disease isn’t being closely managed.

In my practice, follow-up appointments typically occur every three to six months, depending on the patient’s specific situation and how stable their condition is. During these visits, we focus on clinical assessments and laboratory monitoring. We look at hemoglobin levels to monitor for anemia. We monitor IgM levels to track monoclonal protein. We check serum viscosity if there are any symptoms suggestive of hyperviscosity.

Navigating Waldenstroms - Getting the Best Care Close to Home

We also check kidney function, calcium levels, and assess for any signs of organ involvement. A thorough physical exam is equally important. I look for signs like enlarged lymph nodes, enlarged spleen, enlarged liver, and ask about any new or worsening symptoms, like fatigue, night sweats, weight loss, neuropathy, or changes in vision that could signal disease progression.

Navigating Waldenstroms - Getting the Best Care Close to Home

Key signs that might indicate a need to move from watchful waiting to active treatment usually include worsening anemia, symptomatic hyperviscosity, significant weight loss, fevers, night sweats, organ enlargement, or the development of any kind of neuropathy that would affect your daily life. If any of these arise, we reassess and discuss the treatment options.

Navigating Waldenstroms - Getting the Best Care Close to Home

In addition to monitoring, I always like to emphasize the importance of maintaining a healthy lifestyle. Staying active, eating a balanced, healthy, and whole foods diet, and managing other health conditions, like high blood pressure or diabetes, can improve overall well-being and help patients feel more in control of their health.

Emotional support is also very important as living with chronic conditions like Waldenström’s, even in a watch-and-wait phase, can be stressful. Regular follow-ups not only track disease activity but also provide reassurance and a structured plan for managing the condition over time.

The watch-and-wait approach is not about doing nothing. It’s more of a proactive strategy based on solid data and extensive clinical experience.

Dr. Hussam Eltoukhy

Pete: Could you talk a little bit more about the emotional and psychological challenges in that aspect? How do you help a patient navigate through that part of having the disease?

Dr. Eltoukhy: Living with a chronic condition like Waldenström’s, especially under our watch-and-wait approach, can be emotionally challenging for many patients. There’s this uncertainty of knowing you have a cancer diagnosis but not needing immediate treatment. Many patients will relay that it creates a lot of anxiety and stress. It’s completely natural to feel this way, but there are several strategies that we try to do to help patients cope with this.

Navigating Waldenstroms - Getting the Best Care Close to Home

I try to emphasize that it’s important to remember that the watch-and-wait approach is not about doing nothing. It’s more of a proactive strategy based on solid data and extensive clinical experience. If we recommend monitoring rather than immediate treatment, it’s because we know from research and patient outcomes that this is the safest and most effective approach for certain cases. Sometimes, if you explain it to them this way, it can help alleviate some of this uncertainty and fear.

That said, managing the emotional side of this journey is as important. Stress management techniques like mindfulness meditation and deep breathing exercises can help reduce day-to-day anxiety. Regular physical activity is also excellent, even doing something as simple as walking, which I always advocate for my patients. If you ask any of my patients, I tell them, “Do you track your steps daily? If not, you should start tracking and start increasing.”

Start with small goals and try to work your way up. If you can get that to 10,000 steps, great, but start somewhere, even if it’s at a lower number. Increasing physical activity can have a profound impact on mental health by improving mood and reducing stress. I’ve seen it with my patients. I’ve had patients who have done this and say their energy level has increased.

By focusing on physical health and emotional well-being, patients can live full, active lives while feeling confident that their condition is being closely monitored.

Dr. Hussam Eltoukhy

Support groups are also important. They can be very valuable whether they’re in person or online. Connecting with others who are going through the same experience can provide a sense of community and shared understanding. It helps to know that you’re not alone in navigating these emotional ups and downs. Counseling or speaking with a mental health professional can also be very helpful. They can provide tools to manage anxiety and cope with uncertainty.

It’s very important to emphasize to patients the importance of staying connected with their loved ones. Family and friends can be an essential support system, offering emotional comfort and practical help when needed. Maintaining a positive outlook doesn’t mean ignoring the challenges but trying to focus on what’s in your control. Staying active, attending regular follow-ups, and trying to lead a fulfilling life despite having a diagnosis.

Ultimately, while the watch-and-wait approach can feel uncertain, it’s grounded in strong evidence and a deep understanding of the way Waldenström’s progresses and acts. By focusing on physical health and emotional well-being, patients can live full, active lives while feeling confident that their condition is being closely monitored. At RWJBarnabas, we offer many support groups and have a regular monthly calendar that we offer to patients.

Navigating Waldenstroms - Getting the Best Care Close to Home

Maria: As the supportive team to the provider and the patient, we do our best so that the patient doesn’t have to worry about anything as far as authorizations or appointments. We educate them on all of that because those can be also very stressful for them. We try to take all of that away from them so they can focus on their health.

However, we also use the resources that are on campus. There are plenty of groups, like Dr. Eltoukhy said. We also have resources that include dietary and social work that we can refer these patients to and support them.

The staff here is kind and empathetic and treats patients like family. They know that they can call us if they’re scared and we don’t rush them. They know if something happens or they’re having a little symptom in between, they can call, they will receive a callback, and we will take the time to listen and report it to Dr. Eltoukhy, who will then follow up. They know that even though there is a bit of a wait, they can reach out to us at any time.

We do our best so that the patient doesn’t have to worry about anything… so they can focus on their health.

Maria Lamantia

Pete: That’s great. Thank you to both of you. You touched on many aspects, much more than I even anticipated. Your advice is very sound and your practice is amazing and commendable. I know from personal experience that a lot of the things that you mentioned are important in helping a patient navigate through not only the physical health aspects but also the mental health aspects of dealing with the disease and living with a chronic illness.

I go to my local hospital. I take notice of what services they provide and if they have any special programs coming up, I take advantage of them. I’m deeply involved in volunteering for the IWMF, but they help me immensely. It’s always important whatever cancer you have to try and get together with patients who have similar cancers to learn from each other and share stories. There’s a healing aspect in sharing and understanding what someone else has gone through and the IWMF provides that capability.

The IWMF has support groups and affiliates all around the world that help patients. We have a weekly newsletter, online discussion groups, webinars, and an annual education forum. We answer any questions patients, their caregivers, or their family members may have at any point in time.

I encourage people to visit IWMF.com and check out their services. It’s an extra level of care that you can get besides what you’re getting from a very caring hematologist-oncologist and a very caring staff who works with them. I can’t speak highly enough of the very qualified medical community and medical staff and the IWMF. When you put those two together, you’re in very good hands.

Navigating Waldenstroms - Getting the Best Care Close to Home

How Waldenström’s Patients Should Talk to Their Healthcare Team About Their Symptoms

Pete: Another thing that comes up, especially when you’re dealing with a disease that is chronic and you’re in a watch-and-wait period, is odd manifestations that you think is the disease. How should a patient communicate those symptoms? Should they say something or not say something? What’s your advice for communicating any symptoms to their healthcare team?

Dr. Eltoukhy: Effective communication with your healthcare team is crucial when managing a condition like Waldenström’s, especially if you’re on a watch-and-wait approach. One of the most important things patients can do is to promptly report any new or worsening symptoms. You don’t have to wait for your next scheduled appointment, whether it’s in three or six months. I end every single visit with my patients by telling them that if anything comes up before the next appointment, they should call and come in. I don’t say that to fill in the gaps. I tell the patients over and over again, “Do not wait. Come in.”

Effective communication with your healthcare team is crucial when managing a condition like Waldenström’s.

Dr. Hussam Eltoukhy

It’s important for patients to understand that and to know that they can reach out to their doctor. You don’t have to wait. You’re not bothering anyone. We want you to do that. We want you to come in. I want to know if anything is going on because we want to catch some of these symptoms like hyperviscosity very early. Don’t wait. Call your team. If you can’t see the doctor, see one of their colleagues or their nurse practitioner. If something feels different or concerning, reach out right away. That’s what we’re here for.

Navigating Waldenstroms - Getting the Best Care Close to Home

Keeping a symptom diary can be a very helpful tool. By tracking how you feel on a daily or weekly basis, you can start to identify patterns or changes over time that might not be obvious at the moment. Note things like fatigue levels, changes in weight, night sweats, any new pains anywhere, or any new neurological symptoms like numbness or tingling. Detailed information can give your doctor and the rest of your team a clearer picture of what’s happening and can help guide decisions about whether it’s time to adjust your plan.

Listening to your body and trusting your instincts is also key. No one knows your body better than you. If your gut is telling you that something isn’t right, whether it’s a new symptom or a shift in how you’re feeling overall, it’s important to speak up. You’re not bothering anybody. No one’s going to think otherwise.

Your healthcare team is your partner on this journey. Open and ongoing communication ensures that we can address concerns early and adjust care as needed.

Dr. Hussam Eltoukhy

What’s the worst-case scenario? It wasn’t caused by Waldenström’s. As a patient, don’t think anything of it. We want you to tell us all the new symptoms. We want to know what’s going on because we’re here to help the patient.

Sometimes, subtle changes can signal that it’s time to reassess and take a different plan. If you were on the cusp of considering treatment, maybe it’s time to consider it or not consider it. Remember that your healthcare team is your partner on this journey. Open and ongoing communication ensures that we can address concerns early and adjust care as needed. Once again, don’t hesitate to reach out. This is why we’re here. We’re here to support you every step of the way.

Navigating Waldenstroms - Getting the Best Care Close to Home

Clinical Trials for Waldenström’s Patients

Pete: You mentioned that even in the community hospital setting, you participate in clinical trials. Are clinical trials being conducted in your setting? What kind of trials do you have your patients participating in?

Dr. Eltoukhy: Across all cancers, we currently have over 60 clinical trials available at our community cancer center, including many for hematologic malignancies. We offer phase 2 and phase 3 clinical trials. We’re not able to offer phase 1 clinical trials at this time.

Offering clinical trials in a community setting is a great way to provide patients with access to cutting-edge treatment without requiring them to travel to larger academic centers. When determining the feasibility of conducting trials in our center, one of the biggest considerations that we look at is resources. It’s not just about having the physical space or the equipment. We need to ensure that we have the right personnel and infrastructure in place to manage trials safely and effectively. This includes dedicated research coordinators, nurses, pharmacists, and regulatory staff who are trained in clinical trial protocols and patient safety.

Our goal is to offer trials that are not only scientifically valuable but also feasible and safe to administer in the community setting.

Dr. Hussam Eltoukhy

Clinical trials in the US are very heavily regulated and rightfully so. There are strict guidelines and oversight to ensure that every trial is conducted ethically, that patient safety is the top priority, and that data is collected accurately. We have to assess whether we can meet all those requirements from patient monitoring to data reporting while maintaining the highest standard of care.

Ultimately, our goal is to offer trials that are not only scientifically valuable but also feasible and safe to administer in the community setting. We want to make sure patients have access to innovative treatments while receiving the same level of care and oversight that they would expect from one of these larger academic centers.

Navigating Waldenstroms - Getting the Best Care Close to Home

Different Phases of Clinical Trials

Pete: For those who aren’t as knowledgeable about clinical trials, can you do a quick overview of the different phases of clinical trials?

Dr. Eltoukhy: Phase 1 is when a new drug starts to be administered. Once you move on to phase 2, you have already determined the safety of the drug and you’re starting to look at efficacy and how it could work. Once you move on to phase 3, you have a better understanding of how well it works and how safe it is, and you’re looking at a broader approach and getting the real data on efficacy and how well it works.

A phase 4 clinical trial is always ongoing. Any drug that’s out there is always being monitored to make sure that it continues to be safe because safety doesn’t end after phase 1 or phase 2. Safety is ongoing. In phase 1, they’re new drugs that need very close monitoring and you could have unexpected side effects. We don’t quite partake in phase 1 trials right now, but we have many phase 2 and phase 3 trials.

Navigating Waldenstroms - Getting the Best Care Close to Home

Busting Clinical Trial Myths

Pete: In a community clinical team, what can you do to ensure patients will learn about clinical trial options and whether they should be concerned about the potential side effects of being in a clinical trial? Am I going to be worse off by doing that or not? How do you educate them? How do they find out about the clinical trials?

Dr. Eltoukhy: That’s a very common concern. Ensuring patients learn about and understand clinical trial options starts with the clinical team, especially the physician. Physicians should take an active role in discussing these opportunities directly with the patients.

When I open a clinical trial at our community center, it’s because I believe it has the potential to benefit the patients. But offering a trial isn’t enough. We have to make sure that patients understand, are fully informed, and are comfortable with their options. For me, that means sitting down with each patient and having an open, honest conversation.

The right choice for one patient isn’t necessarily the best for another patient. It’s essential to personalize the discussion based on the patient’s health status, personal preferences, and lifestyle.

Dr. Hussam Eltoukhy

I explain what we can offer under the standard of care, what treatments are currently approved and routinely used, and lay out what the clinical trials could provide. I go through the potential benefits, the goals of the study, and also any limitations or uncertainties. Patients must understand not just the possibilities but also the risks and the level of commitment involved.

One of the most critical aspects of these conversations is avoiding bias. My role isn’t to push a patient toward one option or another but to provide them with all the necessary information to make an educated, confident decision. What might be the right choice for one patient isn’t necessarily the best for another patient. It’s essential to personalize the discussion based on the patient’s health status, personal preferences, and lifestyle.

Ultimately, patients should feel empowered to choose the path that’s best for them, whether that’s enrolling in a clinical trial or sticking with the standard of care. By fostering clear, transparent communication, we try to help patients navigate their options and ensure that they’re making decisions that align with their goals and values.

Our goal is to offer as many trial opportunities as we can in our setting but also to recognize when a referral is necessary for something more specialized.

Dr. Hussam Eltoukhy

Bringing Waldenström’s Clinical Trials to the Community Cancer Care Site

Pete: From a perspective of trying to make sure that your patients are aware of these clinical trials and wanting them to take advantage of them if it’s in their best interest, how do you ensure that they have access to the latest trials? How does it work for your hospital system to get involved in a clinical trial, especially for Waldenström’s patients? Do you seek them out yourself or are you approached by the people who are running the trial? How does the process work?

Dr. Eltoukhy: We recognize the importance of staying connected with larger academic centers that may offer these opportunities. A lot of times, we will open trials collaboratively with the Rutgers Cancer Institute. One of the key roles of community medical centers is to understand where we fit within the broader healthcare system. It’s not a one-size-fits-all approach. We need to be very clear about what we can effectively manage in our setting and when it’s in the patient’s best interest to refer them to an academic center for a clinical trial or more specialized treatment.

Once again, it’s not about limitations in expertise. It’s about ensuring patients receive the best possible care whether that’s locally or through a specialized trial at an academic center. Of course, whenever possible, we want to provide that care closer to home. It’s more comfortable, more cost-effective, and less burdensome. Traveling long distances to participate in a clinical trial can be incredibly challenging, especially when dealing with the physical and emotional toll of cancer care.

High-quality cancer care isn’t limited to large academic centers. Community hospitals like ours play a vital role in delivering comprehensive, patient-centered care that’s accessible, effective, and personalized.

Dr. Hussam Eltoukhy

Our goal is to offer as many trial opportunities as we can in our setting but also to recognize when a referral is necessary for something more specialized. Effective collaboration means maintaining strong communication with the academic center, letting them know what trials we have open, what we can manage, and as importantly, what we can’t. By advocating for our patients and fostering these partnerships, we’ve been able to create a seamless system where patients benefit from the convenience of local care and innovations of cutting-edge research when needed. It’s about working together to make sure patients have access to the best options, wherever they may be.

Pete: The IWMF, through the efforts of Dr. Jorge Castillo at Dana-Farber, has established the WM-NET, which is designed to become a network of hospitals across the United States that will participate collectively in clinical trials and have them at their sites. Not all of the participating organizations are going to do all of the trials, but they will try and distribute it more broadly to make it easier for patients to get access to these trials locally rather than having to travel to a major cancer center.

Navigating Waldenstroms - Getting the Best Care Close to Home

Final Takeaways

Pete: Thank you, Dr. Eltoukhy and Maria, for your time and perspective on providing care to Waldenström’s patients in your hospital setting and community-based hospitals. Do you have any final remarks you want to pass along to Waldenström’s patients?

Maria: It would be an honor to treat you and take care of you. Consider our establishment if you don’t want to go to the bigger facilities. It’s a more boutique-like atmosphere. If you come to see Dr. Eltoukhy, you will be in very good hands. It’s an honor to work alongside him.

At the end of the day, cancer care is a partnership between doctors and patients, between community hospitals and academic centers, and between healthcare teams and families.

Dr. Hussam Eltoukhy

Dr. Eltoukhy: Thank you so much for having me. It’s been a privilege to share my perspective on improving outcomes for patients with Waldenström’s, particularly within the community setting.

I hope it’s clear that high-quality cancer care isn’t limited to large academic centers. Community hospitals like ours play a vital role in delivering comprehensive, patient-centered care that’s accessible, effective, and personalized. Whether it’s through offering clinical trials, collaborating with larger academic centers, or simply being there for patients in their communities, the goal is always the same: to provide the best possible care tailored to each individual’s needs. It’s about open communication, staying informed, and making sure patients feel empowered and supported throughout their journey.

At the end of the day, cancer care is a partnership between doctors and patients, between community hospitals and academic centers, and between healthcare teams and families. By working together, we can ensure that every patient has access to the best treatments, latest research, and compassionate care that they deserve, no matter where they are. Thank you again for the opportunity to be part of this important conversation.

Navigating Waldenstroms - Getting the Best Care Close to Home

Pete: It’s been a pleasure speaking to both of you. I learned a lot and got a better appreciation, other than what I already have, of community care practitioners and the dedication and care they have, making sure that Waldenström’s patients are on the path to living healthier and fuller lives. You are instrumental in making sure that happens, so I commend both of you.

For Waldenström’s patients, caregivers, and families, it’s very important at the beginning to establish a good working relationship with a hematologist-oncologist who’s going to be managing your journey with Waldenström’s. It’s important to decide what practice or hospital setting you prefer to go to for periodic testing and treatments, or extended hospital stays if you should ever need them when you have some significant issues. All the doctors, nurses, physician assistants, medical staff, and clinical staff are to be commended for their commitment on a day-to-day basis to help all of us live fuller, healthier lives.

Establish a good working relationship with a hematologist-oncologist who’s going to be managing your journey with Waldenström’s.

Pete DeNardis

I want to encourage anyone around the world who’s affected by the disease to take advantage of opportunities that are out there to find the best local hospital systems that can cater to their needs but also to be involved with an organization devoted specifically to their disease, like the International Waldenström’s Macroglobulinemia Foundation. The IWMF is the only global organization dedicated specifically to the support, education, and research of Waldenström’s.

By becoming a part of the IWMF community, you would have access to weekly newsletters, quarterly publications, webinars, in-person patient forums, and support groups, all devoted specifically to Waldenström’s. The IWMF also has online discussion groups and social media support groups, so no matter where you are in the world, the IWMF will be there to help you. Visit IWMF.com.

Navigating Waldenstroms - Getting the Best Care Close to Home

Stephanie: Thank you so much to Pete, Dr. Eltoukhy, and Maria for providing such incredible context. Self-advocacy is vital, especially for Waldenström’s where having long-term care and long-term doctor-patient relationships are so important. Don’t be afraid to speak up for yourself and ask any questions that are coming up for you, whether you’re a patient or a care partner. The keyword that Dr. Eltoukhy kept talking about was partnership. It doesn’t have to be one place or the other, as long as the medical team is working in partnership with you.

We also want to thank again our sponsor, Pharmacyclics, an AbbVie company, for its support of our independent patient program. We would be remiss to forget shouting out our partners, The Leukemia & Lymphoma Society (LLS) and the International Waldenström’s Macroglobulinemia Foundation (IWMF). Visit their websites for more on these wonderful organizations and what they provide in terms of quality services for patients and care partners in Waldenström’s.

Thank you so much for joining our program. We hope that this was helpful for you and that you walk away with more knowledge and understanding and more questions. We hope to see you at another discussion. Take good care.


Navigating Waldenströms: Getting the Best Care Close to Home
Hosted by The Patient Story
Join WM patient advocate Pete DeNardis and expert hematologist Dr. Hussam Eltoukhy as they discuss the latest in community-based cancer care, personalized treatment options, and effective communication strategies.
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Thanks to The Leukemia & Lymphoma Society and International Waldenström’s Macroglobulinemia Foundation for their partnership.


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Thank you to Pharmacyclics, an AbbVie company, for supporting our independent patient education content. The Patient Story retains full editorial control.


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Chemotherapy Orchiectomy Patient Stories Retroperitoneal Lymph Node Dissection (RPLND) Surgery Testicular Cancer Treatments

Losing a Testicle, Not My Identity: Rob’s Cancer Story

Losing a Testicle, Not My Identity: Rob’s Stage 3 Testicular Cancer Story

Diagnosed at 20, Rob faced the immense physical and emotional weight of stage 3C testicular cancer. An avid fitness enthusiast, he dedicated much of his time and energy to the gym until persistent back pain disrupted his routine. He initially dismissed his symptoms as being due to a weightlifting injury, but they worsened over weeks, leading to loss of appetite and eventually vomiting blood. A visit to the emergency room revealed the shocking truth: cancer had spread throughout his body.

Interviewed by: Taylor Scheib
Edited by: Katrina Villareal

Initially, the gravity of Rob’s diagnosis didn’t fully register. While the word “cancer” carried the terrifying connotation of death, his doctor’s reassuring demeanor helped ease his fears. However, as treatment progressed, the reality of his diagnosis set in, bringing waves of emotional highs and lows. He remained composed in the beginning, taking it one day at a time, but the mental toll deepened as he saw the effects of chemotherapy and surgery unfold.

Rob K.

Chemotherapy for stage 3C testicular cancer proved grueling for Rob, both physically and mentally. With a PICC line limiting his physical activity, he struggled with the inability to engage in his passion for working out. The treatment took a severe toll on his body, leading to extreme nausea, violent vomiting, and an overwhelming sense of exhaustion. As rounds of chemo progressed, the side effects intensified, making even the smallest tasks feel insurmountable. Losing his hair became one of the most challenging aspects. It wasn’t just about appearance; it was about identity. The loss of eyebrows and eyelashes made him look undeniably sick, which shook his confidence. Even when he felt physically well, he avoided going out, fearing the stares and silent judgments from others.

Beyond physical changes, cancer forced Rob to reevaluate his identity as a man. The orchiectomy meant losing a testicle, something he initially didn’t dwell on until after the surgery. Opting for a prosthetic was a practical decision, but it didn’t erase the feeling of loss. There were moments of deep insecurity, worrying about how this change would impact his body and sense of masculinity. However, he shifted his perspective, choosing humor over despair. Instead of dwelling on what was lost, he focused on what remained—his resilience, his health, and his ability to move forward.

Rob’s faith became a significant source of strength. Before his stage 3C testicular cancer diagnosis, practicing his faith was merely a tradition observed on Christmas and Easter, but the comfort of prayer provided a newfound sense of peace. It helped him manage anxiety and embrace hope during the darkest times.

Despite the physical hardships Rob faced, including an unexpectedly intense and complicated surgery, the most emotional moments came with good news. Hearing that all 58 tumors removed during surgery were completely dead was a moment of overwhelming relief. Being declared in remission brought tears of joy, making every struggle worthwhile.

Now, he approaches life with renewed gratitude. The experience has reshaped his outlook, making him appreciate health, support, and the ability to return to the gym. His advice to others is simple yet profound: don’t let negative thoughts spiral out of control, take life one day at a time, and recognize the love and support around you.


  • Name: 

    • Rob K.

  • Age at Diagnosis:

    • 20

  • Diagnosis:

    • Testicular Cancer

  • Staging:

    • Stage 3C

  • Symptoms:

    • Persistent back pain
    • Loss of appetite
    • Vomiting blood
    • Fatigue
    • Firmness in one testicle

  • Treatments:

    • Chemotherapy
    • Surgeries: orchiectomy (testicle removal), retroperitoneal lymph node dissection (RPLND)

Rob K.
Rob K.
Rob K.
Rob K.
Rob K.
Rob K.
Rob K.


This interview has been edited for clarity and length. This is not medical advice. Please consult with your healthcare provider to make informed treatment decisions.

The views and opinions expressed in this interview do not necessarily reflect those of The Patient Story.


Rob K.
Thank you for sharing your story, Rob!

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More Testicular Cancer Stories


Mikael H., Testicular Cancer (Non-Seminoma), Stage 1



Symptoms: Fatigue, one swollen testicle

Treatments: Surgery (removal and reconstruction), radiation, hormone therapy

Steve L., Testicular Cancer (Non-Seminoma), Stage 3C



Symptoms: Grape-sized tumor on neck; hip and pelvis pain; tumor on right testicle

Treatments: Chemotherapy, surgery (removal of right testicle, lymph node resection, and tumor dissection in the neck)

Hugo T., Testicular Cancer (Non-Seminoma), Stage 2B



Symptom: Pea-sized lump on right testicle

Treatments: Surgery (removal of right testicle, lymph node resection), chemotherapy

Matthew O., Testicular Cancer (Non-Seminoma), Stage 3C



Symptoms: Fatigue, one swollen testicle

Treatments: Chemotherapy, surgery

Steven C., Testicular Cancer (Non-Seminoma), Stage 2B



Symptoms: Enlarged left testicle, tenderness in left testicle, lump in back (retroperitoneum)

Treatments: Surgery (orchiectomy and retroperitoneal lymph node dissection), chemotherapy


Rick H., Testicular Cancer (Seminoma), Stage 1



Symptoms: Noticed one testicle larger than the other, dull pain

Treatments: Orchiectomy (surgical removal of one testicle), chemotherapy


Categories
Chemotherapy Colon Colorectal Immunotherapy Patient Stories Treatments

Kristin’s Stage 2 Colon Cancer Experience

Why We Should Listen to Our Bodies: Kristin’s Stage 2 Colon Cancer Experience

Kristin was diagnosed with stage 2 colon cancer in July 2021 at age 46. Her health issues began much earlier, as she had suffered from irritable bowel syndrome (IBS) since her teenage years. However, in March 2021, her symptoms became more severe. She experienced bloating, discomfort, and unpredictable bowel habits. What initially seemed like a bad IBS flare-up soon escalated when she started experiencing persistent pain on the lower right side of her abdomen. Concerned it might be appendicitis, she sought medical attention. A CT scan showed a heavy fecal load and she was advised to take laxatives. However, the pain persisted and then subsided temporarily.

Interviewed by: Nikki Murphy
Edited by: Katrina Villareal

By June 2021, the pain returned. After discussing her symptoms with her sister, who had endometriosis, she sought a hormone specialist. After assessing her symptoms and performing a physical exam, the doctor diagnosed her with severe endometriosis and recommended a hysterectomy. As her symptoms worsened, now including fever, nausea, and unbearable pain, she went to the emergency room. There, an ultrasound revealed fluid buildup, leading doctors to suspect a ruptured appendix. A subsequent CT scan showed a large mass and a bowel obstruction.

Kristin T. feature profile

During an emergency surgery, doctors found a 5 cm tumor wrapped around her right ovary and fallopian tube. Moreover, part of her small intestine was perforated, requiring surgical repair. Additionally, the tumor was also adhered to her stomach, necessitating careful removal. At first, doctors were uncertain if it was cancerous; however, pathology results confirmed stage 2 colon cancer. Fortunately, all 40 lymph nodes tested were clear, indicating no spread.

Following surgery, Kristin then had to decide whether to undergo chemotherapy. Her oncologist left the decision up to her, and she opted for four months of chemotherapy. The treatment process was challenging. She experienced severe mouth sores, dehydration, and neuropathy, making it difficult to tolerate cold foods or drinks. Although she found the infusion center to be a place of comfort, the treatment nevertheless took a significant physical and emotional toll on her.

Kristin completed her final chemotherapy session in January 2022, considering that day her cancer-free milestone. A follow-up scan in February confirmed no evidence of disease. While grateful for her recovery, she acknowledges the lasting impact of the experience. After all, it took three years to feel fully herself again. Even though the uncertainty of recurrence lingers, she nevertheless focuses on gratitude and staying present.

Kristin’s perspective on health advocacy has shifted. She emphasizes the importance of listening to one’s body and pushing for necessary tests. Reflecting on her past digestive issues, she believes a colonoscopy at a younger age could have prevented her diagnosis. She now encourages others to advocate for their health and explore different treatment options. Kristin also experienced deep personal loss when her best friend, Felicia, passed away from stage 4 breast cancer in 2024. Nevertheless, despite the hardship, she remains hopeful and determined to embrace life, as she recognizes the importance of perseverance and self-advocacy.


  • Name: Kristin T.
  • Age at Diagnosis:

    • 46

  • Diagnosis:

    • Colon Cancer

  • Staging:

    • Stage 2

  • Symptoms:

    • Chronic digestive issues
    • Bloating
    • Abdominal pain
    • Unpredictable bowel habits
    • Unexplained weight gain
    • Nausea
    • Fever

  • Treatments:

    • Surgeries: removal of the tumor, right ovary, right fallopian tube, and part of the small intestine
    • Chemotherapy

Kristin T.
Kristin T.
Kristin T.
Kristin T.
Kristin T.
Kristin T.
Kristin T.


This interview has been edited for clarity and length. This is not medical advice. Please consult with your healthcare provider to make informed treatment decisions.

The views and opinions expressed in this interview do not necessarily reflect those of The Patient Story.


Kristin T. feature profile
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More Colon Cancer Stories

 
Jessica T. feature profile

Jessica T., BRAF Mutation Colon Cancer, Stage 4



Symptoms: Severe stomach cramps, diarrhea, vomiting, anemia (discovered later)

Treatments: Surgery (hemicolectomy), chemotherapy

Maddee M. feature profile

Maddee M., Colon Cancer, Stage 2



Symptoms: Severe fatigue, burning sensation in the stomach, intermittent lower right abdominal pain, dizziness, shortness of breath, difficulty walking up inclines, anemia
Treatment: Surgery (hemicolectomy & lymphadenectomy)

Lauren B., Breast and Colon Cancer, Stage 4



Symptoms: Lump in left breast that grew; strange appearance of nipple

Treatment: Surgery, chemotherapy, radiation therapy, hormone therapy, complementary treatments
Amy L. feature profile

Amy L., Colon Cancer, Stage 4



Symptoms Slight change in stool consistency
Treatments: Chemotherapy, immunotherapy

Elizabeth W., Colon Cancer, Stage 4



Symptoms: Irritable bowel syndrome (IBS), small intestinal bacterial overgrowth (SIBO), B12 deficiency, Hypoalbuminemia

Treatments: Surgery, chemotherapy
Kyle R.M., Colorectal Cancer, Stage 4 Symptoms: Constipation, blood in stool
Treatments: Chemo, FOLFOX


Categories
Brachytherapy Cervical Cancer Chemotherapy External Beam Radiation Therapy (EBRT) Patient Stories Radiation Therapy Treatments

Misdiagnoses Delayed Amanda’s Cervical Cancer Diagnosis

How Misdiagnoses Delayed Amanda’s Stage 3 Cervical Cancer Diagnosis

Amanda was diagnosed with stage 3 cervical cancer at 28. The cancer had spread to her lymph nodes and, later, to her abdomen. She initially experienced heavy periods, severe cramping, and intense premenstrual symptoms, which she attributed to normal menstrual irregularities. Over time, her symptoms worsened—she began experiencing abnormal bleeding, large blood clots, and severe pain in her lower abdomen and left leg. She even experienced loss of mobility in her left leg and, additionally, loss of appetite and extreme fatigue.

Interviewed by: Nikki Murphy
Edited by: Katrina Villareal

Amanda visited the emergency room and walk-in clinics multiple times, but doctors repeatedly misdiagnosed her with ovarian cysts, diverticulosis, or kidney stones. It wasn’t until an ER nurse performed thorough diagnostic testing that a mass was detected through a pelvic ultrasound. Amanda was referred to a gynecologist, who dismissed her concerns. Frustrated and desperate for answers, she traveled four hours to Stanford to see a gynecologic oncologist.

Amanda L.

During a pelvic exam, the gynecologic oncologist immediately recognized the presence of cancer. Subsequently, a biopsy confirmed that Amanda had stage 3 cervical cancer. As a result, she was admitted to the hospital for 11 days, during which she received a kidney stent to address blockages caused by the tumor and a port placement for chemotherapy treatments.

Amanda underwent an aggressive cervical cancer treatment plan that included chemotherapy, external beam radiation therapy, and brachytherapy, a targeted internal radiation procedure. The combination of chemo and radiation left her exhausted, nauseous, and unable to eat much; however, she was thankful that she did not lose her hair. Moreover, brachytherapy was especially difficult. It required a spinal epidural, followed by the insertion of metal rods into her cervix to deliver direct radiation. The sessions were painful and left her fatigued and nauseous.

Doctors declared Amanda in remission three months after treatment. However, at her six-month scan, doctors discovered that the cancer had returned. Feeling utterly devastated, she nevertheless underwent another round of chemotherapy and radiation. Fortunately, nine months later, she was once again in remission.

Amanda’s cancer left her unable to have more children, which was an emotional loss. As an only child, she had hoped to give her daughter a sibling. Her experience, as a result, also reshaped her perspective on healthcare—she learned the importance of self-advocacy and, consequently, now urges women to stay proactive about their gynecological health. Through sharing her story on TikTok, she has helped educate others on the importance of routine check-ups and pap smears. Amanda hopes that, as a result, her experience encourages other women to listen to their bodies and, more importantly, push for answers when something feels wrong.


  • Name: Amanda L.
  • Age at Diagnosis:

    • 28

  • Diagnosis:

    • Cervical Cancer

  • Staging:

    • Stage 3

  • Symptoms:

    • Heavy periods
    • Abnormal bleeding
    • Large blood clots
    • Severe cramping
    • Severe abdominal pain
    • Pain radiating down the left leg
    • Loss of mobility in the left leg
    • Loss of appetite
    • Fatigue

  • Treatments:

    • Chemotherapy
    • Radiation therapy: external beam radiation therapy (EBRT) & brachytherapy

Amanda L.
Amanda L.
Amanda L.
Amanda L.
Amanda L.


This interview has been edited for clarity and length. This is not medical advice. Please consult with your healthcare provider to make informed treatment decisions.

The views and opinions expressed in this interview do not necessarily reflect those of The Patient Story.


Amanda L.
Thank you for sharing your story, Amanda!

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More Cervical Cancer Stories

Willow B.

Willow B., Pelvic Cancer, Grade 1, Stage 2.5



Symptoms: Persistent fever-like chills, scratchy throat, fatigue, post-orgasm pain, heavy bleeding, severe cramping
Treatments: Surgery (radical hysterectomy), radiation, chemotherapy, hormone replacement therapy (HRT)
...

Samantha R., Adenocarcinoma Cervical Cancer, Early Stage



Symptoms: Irregular bleeding, pain

Treatments: Surgery (radical hysterectomy, pelvic exenteration), chemotherapy, immunotherapy, radiation therapy, hormone replacement therapy, hyperbaric oxygen therapy
...
Amanda L.

Amanda L., Cervical Cancer, Stage 3



Symptoms: Heavy periods, abnormal bleeding, large blood clots, severe cramping, severe abdominal pain, pain radiating down the left leg, loss of mobility in the left leg, loss of appetite, fatigue

Treatments: Chemotherapy, radiation therapy (external beam radiation therapy & brachytherapy)

...
Mila smiling in her car

Mila L., Squamous Cell Cervical Cancer, Stage 1B1



Symptoms: Abnormal lump in cervix area, bleeding after sex
Treatments: Chemotherapy (cisplatin), radiation, adjuvant chemotherapy (carboplatin & paclitaxel
...
McKenzie E. feature profile

McKenzie E., Cervical Cancer, Stage 3C2



Symptoms: Severe abdominal & back cramping, persistent & extreme pain, heavy discharge & bleeding

Treatments: Radiation, chemotherapy (cisplatin), brachytherapy, immunotherapy (Keytruda)
...
Marissa

Marissa N., Squamous Cell Cervical Cancer, Stage 3B



Symptom: Excessive and prolonged vaginal bleeding

Treatments: Chemotherapy (cisplatin), radiation, brachytherapy
...

Leanne B., Cervical Cancer, Stage 4



Symptoms: Fatigue, irregular periods, pain after sex

Treatments: Radiotherapy, brachytherapy, chemotherapy (carboplatin & paclitaxel)/p>
...
Kristine

Kristine M., Adenocarcinoma Cervical Cancer, Stage 2B



Symptom: Tumor found during postpartum pap smear

Treatments: Colposcopy with endocervical curettage, cone biopsy, total abdominal radical open hysterectomy with lymph node removal
...
Kate R. feature profile

Kate R., Squamous Cell Carcinoma of Unknown Primary Origin, Stage 3C



Symptoms: Intermittent spotting during or after sex, unpredictable menstrual cycle, abdominal pain particularly under the rib cage
Treatments: Chemotherapy (cisplatin & paclitaxel), immunotherapy (Keytruda), surgery (total abdominal hysterectomy with bilateral salpingo-oophorectomy & omentectomy)
...


Categories
Chemotherapy Cytoreductive surgery (CRS) Desmoplastic Small Round Cell Tumor (DSRCT) Hemicolectomy HIPEC (Hyperthermic Intraperitoneal Chemotherapy) Low anterior resection Patient Stories Peritonectomy Rare Sarcoma Soft Tissue Sarcoma Surgery Treatments

Hamish’s Rare Desmoplastic Small Round Cell Tumors (DSRCT) Story

Hamish’s Rare Desmoplastic Small Round Cell Tumors (DSRCT) Story

At 25, Hamish was diagnosed with desmoplastic small round cell tumors (DSRCT), a rare and aggressive sarcoma (cancer that starts in the body’s soft tissues or bones, like muscles, fat, or blood vessels). His diagnosis followed months of fatigue, weight loss, and nausea, initially dismissed as long COVID or dietary issues, until he discovered a lump in his abdomen. Swift action by his general practitioner, including a CT scan and biopsy, confirmed the diagnosis and revealed stage 4 cancer with tumors in his abdomen and a lymph node above the diaphragm.

Interviewed by: Taylor Scheib
Edited by: Katrina Villareal

Despite the daunting statistics surrounding desmoplastic small round cell tumors (DSRCT), Hamish remained hopeful, focusing on his relatively favorable position: no organ involvement and early detection. His oncologist initiated an intensive treatment regimen, including interval-compressed chemotherapy, followed by cytoreductive surgery, a peritonectomy, hyperthermic intraperitoneal chemotherapy (HIPEC), right hemicolectomy, and low anterior resection. The surgery successfully removed all visible tumors, marking a significant milestone in his treatment.

Hamish S. feature profile

Hamish credits the support of healthcare professionals, particularly oncology nurses, his family, and friends, for helping him navigate the emotional and physical toll of cancer. He emphasizes the importance of finding joy, staying connected, and seeking hope even in uncertainty. Reflecting on his experience, Hamish shares that positivity doesn’t always mean optimism but rather embracing vulnerability, caring for others, and cherishing meaningful connections. His most recent PET scan showed no evidence of disease, a moment of relief and encouragement.

As humans, as natural humans, we need hope.

Through his story, Hamish aims to inspire others to radically embrace hope, build support networks, and find strength in both community and perspective.


  • Name: Hamish S.
  • Age at Diagnosis:

    • 25

  • Diagnosis:

    • Desmoplastic small round cell tumor (DSRCT)

  • Staging:

    • Stage 4

  • Symptoms:

    • Persistent fatigue
    • Nausea
    • Unexplained weight loss
    • Discovery of a hard abdominal lump

  • Treatments:

    • Interval-compressed chemotherapy
    • Surgeries: cytoreductive surgery, peritonectomy, hyperthermic intraperitoneal chemotherapy (HIPEC), right hemicolectomy, and low anterior resection

Hamish S.
Hamish S.
Hamish S.
Hamish S.
Hamish S.
Hamish S.
Hamish S.


This interview has been edited for clarity and length. This is not medical advice. Please consult with your healthcare provider to make informed treatment decisions.

The views and opinions expressed in this interview do not necessarily reflect those of The Patient Story.


Hamish S. feature profile
Thank you for sharing your story, Hamish!

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More Desmoplastic Small Round Cell Tumors (DSRCT) Stories


Gianna C., Desmoplastic Small Round Cell Tumors (DSRCT)



Initial Symptoms: Urinary tract infection (UTI), consistent pressure in stomach, stomach pains, passing out

Treatment: Chemotherapy, surgery
...
Hamish S. feature profile

Hamish S., Desmoplastic Small Round Cell Tumors (DSRCT)



Symptoms: Persistent fatigue, nausea, weight loss, hard abdominal lump

Treatments: Interval-compressed chemotherapy, surgeries (cytoreductive surgery, peritonectomy, HIPEC, right hemicolectomy, low anterior resection)
...

Joe F., Desmoplastic Small Round Cell Tumors (DSRCT)



Symptoms: Mild abdominal pain, fatigue

Treatment: Surgery, chemotherapy, radiation
...


Categories
Continuing the Dream Diversity, Equity, & Inclusion

The Importance of Cancer Screening in Communities of Color

The Importance of Cancer Screening in Communities of Color | Dr. Colin Ottey

Dr. Colin Ottey, an internal medicine physician and the Executive Medical Director at Advance Community Health in Raleigh, NC, has a passion for providing care to underserved communities and addressing health disparities.

Interviewed by: Nikki Murphy
Edited by: Katrina Villareal

Dr. Colin Ottey

He discusses the barriers that often prevent people from seeking medical care and offers suggestions on how to improve access to healthcare. He underscores the importance of preventative care, especially crucial for the Black and African American community and people of color. He shares why building trust between healthcare providers and patients of color is vital and how by working together, patients and healthcare professionals can break barriers, improve access, and achieve better health outcomes.

This interview is part of our series Continuing the Dream – honoring Black and African American contributions to healthcare through storytelling and community gatherings


Abbvie has helped sponsor this discussion by The Patient Story

Genmab

Karyopharm

Thank you to AbbVie, Genmab, and Karyopharm for supporting our patient education programming. The Patient Story retains full editorial control over all content

This interview has been edited for clarity and length. This is not medical advice. Please consult with your healthcare provider to make informed treatment decisions.

The views and opinions expressed in this interview do not necessarily reflect those of The Patient Story.



Introduction

I’m an internal medicine physician. I’m the Executive Medical Director of Advance Community Health in Raleigh, North Carolina, which has been around for over 50 years. Advance provides primary care services to individuals in Wake County and Franklin County.

I grew up in Jamaica. I attended college at Brooklyn College and medical school at the University of Illinois at Chicago. I have a special interest in primary care, providing care to the underserved, and working to help reduce health disparities.

What drew me to medicine was the desire to care for people. Growing up, I always liked that doctors were able to prescribe medications that made me feel better afterward. I felt like I would be like those who cared for me as a young child.

As a physician at Advance, I have a great opportunity to serve people, especially those who are underserved or dealing with health disparities, and to influence the care that we can provide as an organization.

Sometimes they feel like they’re better off not knowing if something is wrong with them.

Why People Don’t Want to See a Doctor

Fear is one of the biggest reasons people don’t want to go to a doctor. Sometimes, people don’t want to know they have a medical condition. The lack of knowledge, assumption of what the condition may be, or the outcome of that condition creates a level of fear. Sometimes they feel that they’re better off not knowing if something is wrong with them.

We also have to deal with some social determinants as well. People may not be able to get time off from work to go to the doctor. They have to arrange child care if they have children to take care of. Lack of insurance or financial resources could be a barrier as well. If they live in a rural community, they may have limited specialty services and primary care services as well. If they don’t have transportation, they might not be able to access health care in a center like Raleigh. That’s why we have to make health care more flexible so people can access these services.

One patient who was in his 40s at the time and had a family history of prostate cancer… It turned out that he had prostate cancer, even though he had a normal PSA. Had he not done the digital rectal exam, which a lot of men are afraid to undergo, we would not have discovered his cancer at the time.

Importance of Getting Access to Preventative Care

African Americans or people of color need to get screened because it can help reduce health disparities. Early detection and screening can help people get care much earlier during a disease process than waiting until they start experiencing symptoms, at which time, these conditions could be in terminal stages where very little can be done to treat their conditions.

It’s important to get screening so that we can reduce morbidity and mortality as it relates to those specific conditions. With numerous screening tools available, individuals can access them through their primary care physicians or providers.

I had one patient who was in his 40s at the time and had a family history of prostate cancer, so we always talked about that. He had a normal PSA because we were monitoring. It turned out that he had prostate cancer, even though he had a normal PSA.

The result of one of the exams that I did was concerning to me, so I referred him to a urologist. Had he not done the digital rectal exam, which a lot of men are afraid to undergo, we would not have discovered his cancer at the time. It’s important for men to not be afraid of the digital rectal exam to get screened for prostate cancer. They can always do a PSA test, but the combination is very helpful in terms of screening for prostate cancer. There are a lot of treatments for prostate cancer that could also help reduce morbidity in African-American men.

Providers need to be able to develop relationships with their patients… We have to do is to treat patients the same way we would like to be treated if we were a patient.

How Healthcare Providers Can Build Trust with Patients of Color to Address Health Disparities

We need more healthcare providers of color. People can relate to each other and that will help to build trust. Providers need to be able to develop relationships with their patients. That’s where cultural competency comes into play because sometimes, even though you might identify with the person’s ethnicity if you’re able to develop an understanding of their culture and who they are as a person, you can develop trust with that patient.

Sometimes, patients feel as if providers are delaying care or preventing them from getting certain types of care that they need. What they don’t understand is that we have barriers that we’re dealing with, such as issues with insurance companies that can approve or deny services.

What we have to do is to treat patients the same way we would like to be treated if we were a patient. We have to give patients the level of respect that they need, regardless of their age. See the person as a human being and not as a disease process.

Miss Brown doesn’t just have diabetes. The patient is a diabetic, but she’s a person. She’s a mother and probably a grandmother. She’s probably someone who has been working for X number of years. She could be a person who’s in charge of a department at her job. She’s as important as we are as physicians. We should try to give them that level of respect and allow patients to share their concerns. We should always have room for that in our visits.

Patients should not be afraid to communicate with their providers when they want to ask questions.

How Patients Can Establish Relationships with Their Healthcare Providers

Patients should not be afraid to communicate with their providers when they want to ask questions. They should know their main condition. They should know if there’s something that can be done to treat their medical conditions. They should speak to their providers and say, “I’m X years old now. What things do you think I need as far as my health screening?” They should open that dialogue with their provider and not be afraid to talk to them.

With technology now, we can do a telehealth visit, if they’re uncomfortable with a direct, face-to-face visit with their provider. Telemedicine can help break down some of those barriers. That could be a gateway to get people into the office with a provider directly.


Abbvie has helped sponsor this discussion by The Patient Story

Genmab

Karyopharm

Special thanks again to AbbVieGenmab, and Karyopharm for supporting our patient education programming. The Patient Story retains full editorial control over all content


Stories from Raleigh, NC

Dr. Brandon Blue

Dr. Brandon Blue



Dr. Brandon Blue shares key strategies for better health care and saving lives, especially in communities impacted by multiple myeloma.
Dr. Colin Ottey

The Importance of Cancer Screening | Dr. Colin Ottey



An internal medicine physician discusses healthcare access, preventative care, patient trust, and how both doctors and patients can improve relationships for better outcomes.
Lemuel Eley feature profile

The Importance of Cancer Screening | Lemuel Eley



Heart attack survivor at 44 shares his story, advocating for health screenings and proactive care in the African-American community.
Dr. Marjory Charlot

Dr. Marjory Charlot, Oncology



UNC oncologist discusses increasing awareness and access to clinical trials among Black communities

Roshonda C., Rectal Cancer, Stage 4



Symptoms: Blood in stool, blood from rectum after intercourse, sensation of incomplete bowel movements
Treatments: Chemotherapy, surgery, radiation


Categories
Chemotherapy Immunotherapy Neuroendocrine Carcinoma Patient Stories Rare Treatments

Michael’s Stage 4 Neuroendocrine Cancer of the Esophagus Story

Hospice, Hope, and Hard Truths: Michael’s Stage 4 Neuroendocrine Carcinoma of the Esophagus Story

In December 2023, Michael began experiencing mild difficulty swallowing. Initially, he needed extra water while eating, but as the problem worsened, he sought medical attention. His primary care doctor suspected an infection and prescribed medication, but when symptoms persisted, he was referred for an endoscopy. The procedure revealed tumors covering his esophagus, and after extensive testing, he was diagnosed in February 2024 with stage 4 neuroendocrine carcinoma of the esophagus.

Interviewed by: Taylor Scheib
Edited by: Katrina Villareal

Despite Michael’s initial shock and denial, he quickly sought treatment. As his symptoms worsened, making it difficult to swallow, he experienced severe dehydration, which ultimately led to his hospitalization at City of Hope. There, doctors conducted multiple scans, including MRIs, CTs, X-rays, and ultrasounds. These scans confirmed that while the cancer had spread, it was not extensive. Consequently, they placed him on chemotherapy and immunotherapy, with plans for radiation. However, due to his difficulty lying flat without choking on his saliva, radiation was not an option.

Michael B. feature profile

Partway through treatment, Michael began coughing up blood. The situation escalated, and after a bronchoscopy, doctors discovered a massive fistula between his esophagus and airway. The severity of the fistula led doctors to predict he had only days to weeks left to live. This moment marked a shift in his outlook, and doctors admitted him to hospice care in March 2024.

Although given a grim prognosis, Michael has surpassed expectations, living over a year past his initial two-week estimate. During this time, he has reflected on his experiences and learned to set boundaries, especially in managing visits from well-meaning family and friends. He has also witnessed the incredible dedication of his wife, whom he deeply appreciates for her caregiving efforts.

Throughout his illness, Michael has prioritized self-advocacy, recognizing the importance of seeking second opinions and questioning medical decisions when necessary. His wife played a crucial role in reaching out to specialists across the country to confirm the initial diagnosis. He continues to consider undergoing further scans to understand the progression of his condition, although he remains uncertain about the potential emotional toll of receiving updated results.

Michael’s advice to others facing similar situations is to focus on their mental well-being, mend relationships where possible, and ensure their personal affairs are in order. He emphasizes that while doctors provide estimates, they cannot predict an individual’s exact trajectory, as he himself has defied expectations despite his stage 4 neuroendocrine carcinoma of the esophagus diagnosis. Ultimately, Michael’s experience highlights the unpredictability of life with a terminal illness and the importance of both self-advocacy and emotional preparedness.


  • Name: Michael B.
  • Age at Diagnosis:

    • 31

  • Diagnosis:

    • Neuroendocrine Carcinoma of the Esophagus

  • Staging:

    • Stage 4

  • Symptom:

    • Progressive difficulty swallowing

  • Treatments:

    • Chemotherapy
    • Immunotherapy
    • Surgery: feeding tube placement

Michael B. stage 4 neuroendocrine carcinoma of the esophagus
Michael B. stage 4 neuroendocrine carcinoma of the esophagus
Michael B. stage 4 neuroendocrine carcinoma of the esophagus
Michael B. stage 4 neuroendocrine carcinoma of the esophagus
Michael B. stage 4 neuroendocrine carcinoma of the esophagus
Michael B. stage 4 neuroendocrine carcinoma of the esophagus
Michael B. stage 4 neuroendocrine carcinoma of the esophagus
Michael B. stage 4 neuroendocrine carcinoma of the esophagus
Michael B. stage 4 neuroendocrine carcinoma of the esophagus
Michael B. stage 4 neuroendocrine carcinoma of the esophagus


This interview has been edited for clarity and length. This is not medical advice. Please consult with your healthcare provider to make informed treatment decisions.

The views and opinions expressed in this interview do not necessarily reflect those of The Patient Story.


Michael B. feature profile
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Neuroendocrine Tumor Stories

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Categories
MPNs Myelofibrosis Myeloproliferative neoplasms (MPNs) Patient Events

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

Whether you’re newly diagnosed or managing ongoing care, learn how the latest findings impact your myeloproliferative neoplasms (MPN) treatment options and quality of life.

Dr. John Mascarenhas of The Tisch Cancer Institute at Mount Sinai and patient advocate Andrew Schorr share the latest breakthroughs in MPN care. Explore personalized treatments, cutting-edge therapies, and groundbreaking research that are changing how MPNs are treated. Learn how new discoveries can improve your treatment options, help manage side effects, and enhance your quality of life.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care
Hosted by The Patient Story Team
Dr. John Mascarenhas (Mount Sinai) and patient advocate Andrew Schorr share the latest breakthroughs in MPN care. Explore personalized treatments, cutting-edge therapies, and groundbreaking research that’s changing how MPNs are treated. Learn how new discoveries can improve your treatment options, help manage side effects, and enhance your quality of life.

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Hear about cutting-edge research and new therapies presented at the 2024 American Society of Hematology meeting. Learn how individualized treatments can improve your outcomes and quality of life. Get practical strategies for handling common side effects of MPN treatments. Discover innovative therapies, including JAK inhibitors and combination treatments. Find out how to stay informed and participate in promising clinical trials. Learn the key questions to ask your healthcare team to ensure you’re receiving the best, most current care.


The Leukemia & Lymphoma Society is here for you with information about clinical trials, resources, and support.

Thank you to The Leukemia & Lymphoma Society for their partnership. The Leukemia & Lymphoma Society is here for you with information about clinical trials, resources, and support.


Sobi

Incyte

Thank you to Sobi and Incyte for supporting our patient education program. The Patient Story retains full editorial control over all content.

This interview has been edited for clarity and length. This is not medical advice. Please consult with your healthcare provider to make treatment decisions.



Introduction

Tiffany Drummond: As a clinical researcher and patient advocate, I am excited to talk about some very exciting developments in MPN treatment, including important breakthroughs and promising new combination therapies. Many of these advancements were highlighted at the 2024 American Society of Hematology meeting, better known as ASH, where leading doctors and researchers from around the world gather to share the latest findings.

Our goal is to provide patients and care partners with valuable information to help in their healthcare journey. We want to empower you to have informed conversations with your medical team so you can better understand your treatment options and how to balance effective care with maintaining your quality of life.

Tiffany Drummond patient advovate

We want to thank our sponsors, Sobi and Incyte, for their support, which helps us host more of these programs for free to our audience. The Patient Story retains full editorial control over all content as always. We also thank all of our promotional partners for their support. It is because of you our programs reach the audience who needs it. While we hope you find this program helpful, please keep in mind that the information provided is not a substitute for medical advice.

Let’s kick off another engaging conversation with amazing patient advocate Andrew Schorr and leading hematologist-oncologist Dr. John Mascarenhas.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

Andrew Schorr: Welcome to this program about the latest in MPNs. I’m with a friend and leading scientist-physician Dr. John Mascarenhas at The Tisch Cancer Institute at Mount Sinai in New York. John, you have many titles. You’re a noted hematologist and subspecialist in MPNs. Thanks for joining us.

Dr. John Mascarenhas: Andy, thanks for inviting me. I always enjoy connecting with you.

There has been a lot of interest as we understand the disease biology even greater than we did in 2005 when the JAK mutation was first discovered.

Dr. John Mascarenhas

Is There Encouraging Progress for Myelofibrosis Patients?

Andrew: It’s very personal for me. I’ve been living with primary myelofibrosis since 2011 and it’s somewhat progressed. I’ve been on two JAK inhibitors and maybe I’ll switch to a third. Will I have combination therapy with a JAK inhibitor and something else? We all wonder about that.

Some of us are concerned. Should we have a transplant or can medical therapies take the place of a transplant? If you have polycythemia vera or essential thrombocythemia, you ask if you’re going to progress to myelofibrosis and at what rate. How is our situation different from the next person?

John, you were a speaker at the 2024 ASH meeting in San Diego, and you were involved in lots of studies. I want to talk about what’s significant for patients. We have the current therapies and a lot of drugs that many of us have never heard of that are in development. You’re involved in a lot of the development. Which way is the wind blowing? Are you encouraged for us? We saw progress in other blood cancers. Is it now starting to blossom in MPNs, specifically for myelofibrosis?

Dr. Mascarenhas: The short answer is yes, I am encouraged. That’s a fundamental defect that I have, continuing to be optimistic no matter what we’re looking at. That optimism has been maintained over almost 20 years that we continue to move in the right direction, but unfortunately, often not fast enough for our patients.

What I’ve seen is the evolution of the JAK inhibitor era, which you alluded to. We have four JAK inhibitors that are approved that allow us to tailor and personalize the therapy to patients based on their profile and blood counts, and even provide serial sequencing of JAK inhibitors. But that isn’t enough.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

There has been a lot of interest as we understand the disease biology even greater than we did in 2005 when the JAK mutation was first discovered. We now recognize that there’s a greater degree of complexity and heterogeneity among patients. There are a lot of different pathways that appear to be very important and relevant to the physiology and pathophysiology of this disease.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

There is a real interest in targeting the grandfather/grandmother cell in which the disease originated. We are looking for vulnerabilities in those pathways in that cell population that would allow us to ultimately delete that cell to provide deeper responses and even curative approaches. Outside of transplantation, the therapies we have don’t cure patients. They address issues that are not unimportant, like spleen size and cytopenia or low blood counts, and improve how patients do and ultimately prolong survival. But we’re looking to leverage these findings from the lab to find therapies that change the disease course and improve outcomes like survival and progression-free survival.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

Many agents are leading us in that direction. These agents turn on the p53 pathway, like navtemadlin, an oral drug that binds a protein called MDM2 and relieves repression on p53, allowing for the natural cell processes to be induced, which is cell death of the malignant cell. It’s a fascinating concept. Navtemadlin is at the forefront of doing that. We showed data in the relapsed/refractory setting of using that as a single agent. We’re now going to move it up to combinations.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

Drugs like that are telling. They’re hitting pathways that can induce malignant cells at their core to die, to synergize, and be practical with it. We want to create therapies and approaches that capitalize off the benefits we have, like JAK inhibitors, which can be well-tolerated but can provide deeper responses than what we’ve seen thus far. Navtemadlin is a great example of that.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

What Have We Learned from MPN Gene Mutations?

Andrew: We’re going to go through a laundry list as we dig into different drugs, but I want to go over what you said. You’re trying to go back to the very basics of cancer, what went haywire in a patient who ends up with a bone marrow problem that leads to one of the MPNs. Can you shut it down at the earliest stage by understanding it?

Over the last few years, your scientific community has identified different oncogenes (cancer genes) that have been responsible for that. You talked about the heterogeneity or the differences. Some of us have CALR, some have JAK2, and some have MPL. Is that understanding helping?

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

Dr. Mascarenhas: I do think it helps because we recognize that it’s not a monolithic disease. The driver mutations and the different amounts of those mutations that are understood to be present in the bone marrow cells as well as the sequence in which the mutations arose all tell a picture. They paint a picture of complexity at the molecular and cellular level that explains why there’s heterogeneity at the clinical level — why some patients have very high white counts and some patients have very low platelet counts; why some patients have very big spleens and some patients have a lot more anemia and transfusion dependence. It can all be explained relative to the biology, these mutations, and the effects of these mutations.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

Once we’ve realized that, the next step is how to take all of that complex data and distill that to help us understand how best to target those cells based on that genomic complexity. That’s where things like artificial intelligence and machine learning will help us move the field forward as it’s doing with other sciences. We’re moving in this direction of a deeper understanding of the biology from the molecular standpoint that informs us with prognostication, which is important, but most importantly, therapeutic implications.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

There is substantial data that would suggest that certain mutations likely influence outcomes and responses to treatment. Most patients will have had next-generation sequencing. You look at these gene panels and see if mutations exist in any given individual and what they mean. We know that some of these mutations can have influenced prognosis and outcome. Some of these mutations and the presence of more than one mutation could even predict a lesser response to drugs like ruxolitinib, a less robust spleen, a shorter duration of response, and a quicker time to failure of drugs. Knowing that upfront may be strategic in understanding how better to approach diseases rather than give the same drug to everybody.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

The same drug for everyone is not going to be the right answer. At the forefront, drugs that target CALR, for example, are exciting. We’re taking out a subset of patients with myelofibrosis and ET with the mutant CALR protein expressed on the surface of the cell and saying these patients may be best served by a drug that specifically targets that protein on the surface. That wouldn’t make sense for a JAK2-mutated patient. A JAK2-mutated patient may be best served with a small molecule inhibitor that specifically and selectively targets the JAK2 mutation, which is under investigation. You’re seeing these mutations inform the clinical development of very selective and specific drugs.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

Andrew: I almost think of next-generation sequencing like a modern art painting with red and blue splattered. Hopefully, with some consultation with an MPN specialist, you can find out how current therapies or investigational ones apply to your specific situation.

The genes that are driving our illness may evolve, so what the story is today may not be the same story in a year, two, or three.

Andrew Schorr

How Do Doctors Choose the Right JAK Inhibitor for the Patient?

Andrew: You also mentioned how the genes that are driving our illness may evolve, so what the story is today may not be the same story in a year, two, or three. I’ve been living with myelofibrosis since 2011. It has been pretty stable and has been driven by JAK2 V617F. You mentioned the four current approved JAK inhibitors. They have nuances and it would seem like the choice of which one or sequencing, as you said, may vary by patient based on their situation. How do you know where to start?

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

Dr. Mascarenhas: We are blessed that we have choices today because it wasn’t always the case. We have opportunities to select drugs that may be best suited for different subsets of patients. For example, patients with low platelets or those who have cytopenic profiles may be best served by drugs that are easily delivered and have rationale in that patient population, namely pacritinib over ruxolitinib, in which we know platelets often limit the ability to dose up on ruxolitinib. Fedratinib, even more recently, had some data providing some more security there. We know that platelets could be a determinant of which one of the JAK inhibitors you’re going to select.

Most patients will start with ruxolitinib. It’s the oldest, most familiar, and probably still one of the best drugs that I’ve ever seen in this field

Dr. John Mascarenhas

Anemia is another one that’s gotten a lot of attention. It can be a major issue for patients at presentation and can worsen over time. Ruxolitinib is a great drug, but it can worsen anemia for some patients, so it may not be the best therapy in that setting. However, drugs like momelotinib or even pacritinib that inhibit ACVR1, a different protein, can improve anemia in some patients.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

We use patient profiles to help us understand which drugs to choose from, but for the most part, most patients will start with ruxolitinib. It’s the oldest, most familiar, and probably still one of the best drugs that I’ve ever seen in this field in terms of achieving its goals. But again, not every patient fits the bill, so you can tweak that as needed.

Is Combination Therapy the Next Step in Building on JAK Inhibitors?

Andrew: A lot of studies talk about building on ruxolitinib and I’m sure there’s discussion about building on the other JAK inhibitors as well. Is a one-two punch necessarily better? Is that where you’re headed?

Dr. Mascarenhas: It’s definitely what we’re interested in asking. We have JAK inhibitors that are disposable and beneficial, but they’re not sufficient. We have other drugs that have demonstrated clinical activity and are rational and validated in preclinical models, which are systems that help us understand whether it makes sense to take it into a patient. These are drugs like pelabresib, imetelstat, navtemadlin, and selinexor, but each drug has a rationale and is active even as a single agent in these diseases.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

The question being asked now is: is it better to combine the two drugs? If you look throughout oncology, most of oncology is treated with combinations of therapy. It’s very rare to find an oncologic disease, whether it’s of the blood or of the solid malignancy, where we use one agent and then if it fails, we go to a single subsequent agent. Usually, combinations of therapy are more potent together.

If you put agent X — whether it’s selinexor, navtemadlin, pelabresib, or imetelstat — together with ruxolitinib, which tends to be the first drug you pick, you tend to see better efficacy and, in some cases, even better safety profile when the two are combined.

Dr. John Mascarenhas

A term we often use is synergize. If you take either drug alone in a lab and expose them to malignant cells, the combination of the two drugs works better than one plus one — it’s almost one plus one plus one. You get better effects in terms of killing or limiting malignant cells. We hope to replicate in humans what we see in the lab or in mice that are engineered to have these diseases.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

The data in the field has taken us towards the route of combining novel agents that have shown activity in the relapsed/refractory setting with a single agent as combination therapy upfront. Most of the data would point that if you put agent X — whether it’s selinexor, navtemadlin, pelabresib, or imetelstat — together with ruxolitinib, which tends to be the first drug you pick, you tend to see better efficacy and, in some cases, even better safety profile when the two are combined. The natural question is: if we take two active agents, can we get deeper responses? What does deeper response mean?

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

At the most superficial, it could mean more spleen reduction — that’s a regulatory endpoint — and deeper symptom improvements, but we’re looking at other biomarkers to understand if we’re hitting the target that we want. Are we getting deeper reductions in the driver mutation amounts of the variant allele frequency (VAF)? Are we reducing those numbers to suggest that we’re reducing the burden of disease in the bone marrow? Since we can’t measure it with a CT scan, are we reducing the disease in the bone marrow from other viewpoints like fibrosis? Is the amount of circulating abnormal cells reduced, something called the CD34+ cell number? Are we also reducing cytokines or inflammatory markers to a deeper extent?

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

We look at all of these biological aspects and hallmarks of the disease. Are we getting even more profound effects on these biomarkers, suggesting that we’re modulating the disease more effectively? At the end of the day, MPN patients want to live better and longer, but we look for markers early in trials to understand if we’re getting there.

Andrew: These are very powerful medicines. Will the quality of life be diminished if you add this other big gun? We want to live longer, for sure, but we want to live well. Could you talk about the power of the combinations but the worry about additional side effects?

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care

Dr. Mascarenhas: I’ll give you a prime example where one plus one can equal three from an efficacy standpoint but might still equal one from a safety standpoint. A great example is the MANIFEST-2 study. We took JAK inhibitor-naive patients with myelofibrosis and randomized them to the standard of care, which would be ruxolitinib, plus a placebo and ruxolitinib plus the study drug pelabresib, which is an oral BET inhibitor, a very rational drug that modeling has shown us should synergize very nicely with ruxolitinib. It’s a double-blinded study, so the patients and investigators don’t know what the person is getting; only a computer knows.

The answer is it did. Efficacy-wise, if you look at 24 weeks, there were very profound reductions in spleen size and very profound reductions in symptoms. If you look at the biomarkers — the bone marrow fibrosis, the inflammatory cytokines, and the JAK2 mutation — the reductions were far more significant. Everything aligned with the superiority of the combination.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

But most intriguingly, if you looked at the safety profile, there were fewer grade 3 and 4 treatment-emergent side effects with the combination than with the single agent. I’ve never seen that before where two active agents combined got almost double the clinical activity and less toxicity. I hope it’s reassuring for patients that double the action doesn’t mean double the trouble. You can combine some of these drugs, get good activity, and not make patients feel worse but even make patients feel better and have less toxicity.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

We have to acknowledge that we add toxicity sometimes when we add combinations. Sometimes that toxicity is in the form of gastrointestinal (GI) toxicity or lower blood counts. Sometimes it’s a trade-off. Are we getting deeper responses that could lead to better outcomes where we could be getting more cytopenia and more need for monitoring, or even transfusions? Is that reasonable for a given individual? Could we be adding some nausea and diarrhea by doing that?

What’s key to this conversation is: are we adding these toxicities continuously or periodically when some of these (MPN treatments) are dosed? For example, navtemadlin is a very active drug. When we looked at the data, it was very clear that you could get some GI toxicity. It was mostly low-grade and easy to manage, but it’s there. The drug is dosed for seven days in a row out of 28 days. The toxicity was mostly relegated to days two and nine.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

This is an esoteric or personal question: for any given individual, if that deeper response could lead to better outcomes, is that period where you may have GI toxicity worth it? From a human perspective, I’m not sure. From a clinical investigation, we’re interested in trying to understand: are we providing full good at a price or is it going to be good and no price? Nothing comes for free, but these are important questions.

We rely on the patient community to tell us. We don’t simply ask patients how they’re feeling. There’s also a much-validated tool that we use called Patient Global Impression of Change (PGIC), which is simple. It asks: if you put everything together, all the toxicities that might ensue and benefits that you’re noticing or being told by the physician that you’re getting, do you feel like you are the same, a little better, a lot better, a hell of a lot better, or a little worse? The PGIC is a very valuable tool because patients will tell you if the whole thing is worth it or not. It’s key to making sure that globally, they believe that they feel that what they’re doing and what they’re going through is a net benefit at the end of the day.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Transplant vs. Medication: Where Do We Stand?

Andrew: You’ve mentioned a number of these drugs that are investigational on top of the four approved JAK inhibitors. I’m 74, so I don’t plan to do a transplant, but some patients are younger and it’s been recommended they have a transplant. As you say, it can be curative. It’s a big gun. I lived in Seattle for a long time where they developed it originally and I knew about the morbidity and mortality, and that continues for some people. Where are we now with transplant versus all these other treatments?

My hope and my goal in my lifetime and my career would be that we ultimately develop therapies that make transplants unnecessary.

Dr. John Mascarenhas

Dr. Mascarenhas: Fortunately or unfortunately, transplant remains the only modality that we have for a cure and, as you’ve pointed out, it’s not for everybody. If you’re advanced in age or have too many comorbidities, a transplant may be more dangerous and detrimental than it ever will be helpful. I’m an advocate for transplant, but it’s for a select group of patients. Patients who go into transplant are moving into an aggressive type of therapy, but it has to meet the aggressive nature of the disease. You would never take someone who has a low-risk version of the disease right into transplant because you could cause more harm earlier on than good.

It’s a complicated discussion that involves understanding where the patient is from a disease perspective, the nature of their disease, their goals, understandings, and expectations, and making sure they have a donor and support system to do a transplant. I encourage that conversation. It’s important, but it’s not going to be for everyone.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

My hope and my goal in my lifetime and my career would be that we ultimately develop therapies that make transplants unnecessary. At its core, transplant is taking immune cells and using them to ultimately get rid of the grandfather or grandmother cell, which is what we call the stem cell that started the disease process, and that’s an immune-mediated elimination of the cell. If we can figure out how best to do that with medicinal therapies that may not be as intense, then we could get to a point where transplant may become historic.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

At Mount Sinai, that’s what a lot of our translational research has been based on, and Ron Hoffman and others have taught me this. It’s a stem cell-directed approach to shut down or eliminate that pool of cells that allows the disease to persist. Even after you wipe out cells with a transplant, those cells can come back. Using science and collaborating with patients, targeting stem cells with rational therapies is the only way we’re going to do that.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

If it weren’t for patients who show up at tertiary care centers like ours, meet physicians like me, and sign consent forms to allow us to take their blood, bank it, and use it to understand the biology, then we wouldn’t be able to move the field forward. It’s the science that we derive from our patient’s cells and their generosity, and allowing us access to their data that help us understand how to make the next generation of therapies that will target that stem cell.

Andrew: I’m a big believer in that. I go to a tertiary center as well. I’m willing to give the blood and I’d recommend that to people.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Will PV or ET Progress to Myelofibrosis? What Can Be Done?

Andrew: We have people who may not have myelofibrosis. They may have polycythemia vera or essential thrombocythemia. As they learn, they know that there can be a progression from one to another. They’re not on a JAK inhibitor, but they might be someday. What do we know about slowing progression or even knowing who will progress?

Dr. Mascarenhas: We know that the disease is chronic and progressive. Progression is not just a fear of the patient; it’s a reality that we as physicians try to risk stratify. When we meet patients, we try to understand if there are risk variables that may help us predict what that timeline might be to make treatment decisions.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

We believe the rate of progression and the reason patients progress is due to clonal evolution. Blood cells acquire more mutations and alterations that allow that cell population to behave differently and change the clinical picture. We use variables, like age, anemia, white blood cell count elevation, presence of circulating blasts, low platelet count, and high molecular mutations or chromosomal abnormalities, and enter them into prognostic scoring systems, which can be found online.

Many patients will find one of these prognostic scoring systems, plug their information in, and get a sense of where they fall in prognosis. But I will caution patients: if you ever do that or speak to a physician, you must understand statistics. Please don’t make the mistake of assuming that the median survival you see is what your lifespan is. It doesn’t work that way. It’s a framework to understand where in the spectrum of patients you fall and help us make treatment decisions about the most appropriate therapy.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Our approach will evolve over time to a more refined, risk-adapted approach where we use mutations to guide us not just in the selection of therapies but the timing of when to use those therapies. From seeing enough patients, I understand that progression is a real concern for ET, PV, and myelofibrosis patients.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Progression to Acute Myeloid Leukemia (AML)

Dr. Mascarenhas: The ultimate concern about progression is the potential to evolve into acute myeloid leukemia (AML). Sometimes you might hear it called the blast phase. That’s an aggressive form of leukemia that is problematic and is a fear factor for patients and physicians treating patients with MPNs.

To see if that’s a concern, we look at mutations like p53, a type of mutation, or the presence of circulating blasts or blasts, which are immature cells in the bone marrow. That information can help us get a sense of what the risk may be of a patient transforming into an acute myeloid leukemia.

MPN-related AML is molecularly distinct from de novo AML… Unfortunately, it’s often more resistant or refractory to the traditional types of therapies that we give in that setting.

Dr. John Mascarenhas

Are We Making Progress with Secondary AML in MPN Patients?

Andrew: There’s a percentage of MF patients who traditionally would progress to AML. There’s been progress in what you’d call primary AML and there have been a number of drugs developed, but secondary AML that would come out of myelofibrosis, I understand, has been more difficult. Where are we with that now?

Dr. Mascarenhas: You’re right. For what we call de novo AML, we have a plethora of different agents. They’re still not enough, but we have agents that can be quite effective in trying to control that type of AML and induce a response. Those agents typically are not as effective and don’t have a very significant impact on the disease process in secondary AML or AML that arises out of an antecedent myeloproliferative neoplasm, whether that’s ET, PV, or myelofibrosis.

MPN-related AML is molecularly distinct from de novo AML. It looks different from a mutation profile and behaves differently. Unfortunately, it’s often more resistant or refractory to the traditional types of therapies that we give in that setting. There’s no benefit to an AML patient who had an MPN previously by giving them induction chemotherapy unless that’s followed by a transplant. Every study tells us that doesn’t improve patient outcomes, so we know that’s not effective.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

We rely on drugs like hypomethylating agents, like decitabine, decitabine+cedazuridine, or azacitidine. These epigenetic therapies try to induce maturation of these immature cells, which is what leukemia is, or immature cells that don’t know grow up. We try to induce that maturation process so that they die a more natural death. It’s less intense, but it’s more effective with this type of AML.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

There are a lot of other therapies under clinical investigation. Some of them are molecularly directed therapies. We’ve run trials with IDH inhibitors, oral drugs that specifically go after mutations that can be present in AML that arose out of an MPN, which can be quite effective. Understanding the molecular profile of that AML could inform treatment decisions. The reality is that’s an AML that’s problematic. Our real goal is to stop the process from evolving to AML because we know that treating that is complicated.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Role of Interferon for the Treatment of MPNs

Andrew: We’ve had interferon for a long time. Where does that fall in?

Dr. Mascarenhas: Interferon, which is a biologic that has been around a long time, is an interesting compound. There is a lot of data in the lab and in patients who’ve been treated on trials, particularly polycythemia vera and essential thrombocythemia, that this drug can be anti-cloning. You can see changes in blood count numbers with ET and PV, and reductions in mutation levels that are driving mutations like the JAK2 mutation. Groups have shown that a reduction in those levels correlates with better event-free survival (EFS). Events are clotting, bleeding, progression, and death in ET and PV. We see the value in that setting. Interferon’s increasing in its utility and use throughout the world.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Myelofibrosis is a little bit different. There’s probably some value there, particularly in treatment-naive early forms of the disease or prefibrotic forms. Interferon is under active clinical investigation in a global study, which is taking patients with lower-risk diseases that don’t have so much complexity and fibrosis in their bone marrow and have seen so many different types of therapies. Interferon works best early on in the disease course. Once the disease gets too complicated and too advanced, it may not be that effective.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

New Drugs Being Studied in MPN Treatments Clinical Trials

Andrew: We mentioned the ASH conference. There are the European Hematology Association (EHA) meetings and other meetings that you attend as well. You mentioned selinexor and navtemadlin. There’s nuvisertib, elritercept, and DISC-071, an anti-hemojuvelin antibody. Help us understand this constellation of what’s going on.

Dr. Mascarenhas: You’ll notice certain themes. For the uninitiated, these names are somewhat frustrating because they don’t resonate. If one were to think about themes, they make sense.

What we’re trying to do in translating the understanding of the biology from the laboratory to the clinic is targeting signaling pathways. These pathways are inappropriately activated in malignant cells that continue to tell them to proliferate, secrete inflammation, and do things that they’re not supposed to do.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

We have very intricate, complex, and overlapping signaling pathways in many malignancies, including myelofibrosis. Multiple signaling pathways are inappropriately activated or hyperactivated. For example, JAK inhibitors inhibit the JAK-STAT signaling pathway and you’ll notice those drugs end with “nib.” Those are small molecule inhibitors that inhibit enzymes in those signaling pathways.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Nuvisertib is a small molecule inhibitor which is a selective PIM-1 kinase inhibitor. It inhibits an enzyme in a signaling pathway that is very relevant to the biology of the disease. It has nice data so far that shows a reduction in symptoms, particularly spleen size and cytokines, as a single agent in patients who’ve already been on a JAK inhibitor.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Other drugs may try to turn on mechanisms that have been turned off, like navtemadlin and selinexor. These drugs are focused on different pathways but with one unifying theme, which is the p53 pathway. It’s the master regulator of cell fate. In a normal situation, your cells would get cues to commit suicide if they were infected or corrupted in some way and that is governed by the p53 pathway, an intrinsic pathway that limits the cell’s life. The problem is malignant cells have co-opted that system and turned it off. They turn it off in different ways. Navtemadlin and selinexor, through having different mechanisms, act on trying to turn that pathway on and encourage that cell to die.

You’ll see drugs that get into the cell that affect pathways, drugs that get into the cell that try to turn on pathways, and drugs that try to use the immune system in different ways to go after the abnormal cell.

Dr. John Mascarenhas

Then you might see a drug like a calreticulin antibody, which inevitably will get a name. You’ll notice early on that it’s just letters and numbers and as the development goes on, it becomes funny names that don’t make any sense and then ultimately, when it gets to the commercial space, it will be a catchy name that could be marketed. The mutant CALR antibody drug by Incyte is a perfect example of what will be a “mab,” a monoclonal antibody, which is targeted at the CALR mutant protein expressed aberrantly on the surface of the cell and is a marker for those abnormal cells. What better way to attack an abnormal cell than to have a selective marker? It’s like a handshake. It’s not even a drug; it’s a peptide. It’s a protein that binds that and by doing that, internalizes that protein complex, and that leads to the death of that cell selectively.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Approaches like that will be very fascinating. Those are immune-based approaches. They have BiTEs (bispecific T-cell engagers) that multiple companies are developing, which introduce T cells in a myelofibrosis patient to the abnormal cell by having two ends of that antibody — one that goes after the CALR, for example, and the other one that goes after CD3 on a T cell — and introduces the two cells together so that that T cell does what it should have done in the first place: recognize and create a response to that abnormal cell.

You’ll see drugs that get into the cell that affect pathways, drugs that get into the cell that try to turn on pathways, and drugs that try to use the immune system in different ways to go after the abnormal cell. These are the general themes.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Considering a Clinical Trial

Andrew: Some drugs are being studied at different levels. What would you say about considering enrolling a patient in a trial once there’s a clear picture of their case? Is there one of these that could line up with that? Take us through the thinking and discussion between a doctor and a patient about considering being in a trial.

Dr. Mascarenhas: I have to acknowledge that being on a trial is scary. I hear this all the time: guinea pig. You feel as though you may be experimented on. I always try to caution patients from that mentality because if you have a disease like myelofibrosis that is frightening to have in itself and can limit the quality of life and maybe even the time that you have, then it warrants consideration to do better than the MPN treatment standard of care. The standard of care, which is JAK inhibitors, has benefits for sure, but it’s incomplete for many patients.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

The consideration for trials hinges on the patient’s goals and desires. Clinical trials may not be reasonable for every patient. Geography influences clinical trials. If you live in a rural area, the distance to a center offering a clinical trial may preclude you from participating. We know other factors may also get in the way of joining clinical trials, like language barriers, cultural barriers, and financial barriers.

I would encourage any patient who sees a specialist and goes to a tertiary care center to at least seek a consultation. This will help them understand what someone who does this full-time thinks about their disease, to clarify or classify their disease, and what clinical trial options exist.

Trials should make sense. You have to ask questions so that you understand what you’re getting involved in.

Dr. John Mascarenhas

I’ve been around long enough to know ruxolitinib as INCB18424 before it was Jakafi. The drug was used in the clinic and we prayed that it was going to make a big difference and it did. It wasn’t enough of a difference, but it made a big difference. I remember those brave patients who were the first patients to get on that study. They set the tone for the whole field and the development of other therapies because of what they put themselves into. Those patients needed the therapy, but what they did allowed us to prescribe the drug to a lot of patients. It has a profound impact way beyond that individual.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

The reality is patients go on a clinical trial for themselves and that is what it should be, but you end up helping the greater good at the same time. You have to feel comfortable with joining a clinical trial. You have to read the consent form. You have to ask questions. What does it involve? What are the potential toxicities? What would be the consequences of participating in a trial?

I feel very comfortable saying that in 2025, any trial I’m aware of that’s offered to patients is an informed trial. These are not trials where we’re taking a random agent off a shelf, throwing it over there, and hoping that it works. These are drugs and agents that are vetted, have a rationale, and go through many layers of pre-testing before they go into humans. You have to trust your physician because if your physician is working with you, then the trial that’s offered to you would hopefully make sense. Trials should make sense. You have to ask questions so that you understand what you’re getting involved in.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Getting the Test Drug vs. a Placebo

Andrew: You mentioned that people ask if they’re going to be a guinea pig. They also ask if they’re going to get the “good stuff.” In other words, they want to know if they’re getting a sugar pill or a placebo. Could you talk about that concerning these trials for drugs that are investigational now?

Dr. Mascarenhas: If you’re in a phase 3 study that’s randomized, a computer randomizes you to arm A or arm B. Arm A may be the active clinical trial agent and arm B could be a placebo, but that has to be disclosed in a consent form. That’s essential. You can ask the physician, “Do I get the study drug or is it going to be randomized? Is it going to be a placebo?”

But a placebo is not always bad. For example, in the MANIFEST-2 study or what’s currently enrolling in the SENTRY study with selinexor, you get randomized as a JAK inhibitor-naive patient with myelofibrosis to either Jakafi plus a placebo, so you’re still getting active therapy, versus Jakafi plus selinexor.

It would be unethical to give nothing to someone who needs treatment.

Dr. John Mascarenhas

The idea is: can we build upon the success of the standard of care? That becomes important. It would be unethical to give nothing to someone who needs treatment. It’s not unethical and it’s practical to give someone who needs treatment the standard of care plus a sugar pill, which is blinded, versus the standard of care plus the study drug to ask which treatment regimen is better.

You can ask your physician, but you’ll notice that most trials will allow crossover and that becomes important. If you get the placebo, which only the computer knows, at some interval, most trials will allow you to cross over to the active compound. It becomes a question of: do I get the active combination upfront or is it delayed? That’s a nuance that I want to stress. If you’re participating in a phase 1 or phase 2 study, you’re going to get the drug. Those are not placebo-controlled studies. You should always be getting the drug in those settings.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

What If I Have Other Chronic Conditions?

Andrew: Some of us have other conditions, like diabetes, high blood pressure, or a heart condition — for me, it’s chronic lymphocytic leukemia, which is fortunately pretty well-controlled— but we’re often excluded from trials depending on the condition. We understand the worry of the investigators. Is our data clean? Can you extrapolate from that? Can you talk about exclusion criteria and compassionate use?

Dr. Mascarenhas: The reality is there are biases in the way we do trials. We avoid patients who may be inappropriate and these are real patients who might be in need, but the trial may not be appropriate. These can be patients who have very significant kidney or heart dysfunction or a competing malignancy. Interestingly, CLL, which is more frequently seen in patients with MPNs, has different stages. Sometimes a study will allow patients who have a very indolent type of CLL to go on the study. But often, trials will be very particular, especially registration studies where they’re going for approval.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

The last thing a study needs is to have confounding data where they’re unclear whether they’re making something unrelated to the myelofibrosis worse or that condition is making the assessment of the drug harder to appreciate. There is a tendency to exclude patients who have extremes of comorbidities so not all comorbidities. If you have grade 1 heart failure, that’s often allowed in a study because that’s a reality of life.

There is a very strict inclusion and exclusion criteria, what we call eligibility criteria, which determine the ability to put someone on a study. Most of those are there for safety reasons to avoid causing additional problems with a drug because it’s not intended for that reason. Another reason why they’re there is if you have a very messy, patient population with lots of diversity and heterogeneity in organ function, etc., it can be very difficult to assess whether the treatment we’re giving is safe or effective. To some extent, out of necessity, we create some homogeneity out of the heterogeneity.

Compassionate use… requires a lot of regulatory oversight, approval, and effort, which is not provided by a company or anyone.

Dr. John Mascarenhas

Andrew: How about compassionate use? If somebody would otherwise be excluded, could their doctor make a plea for a late-stage patient?

Dr. Mascarenhas: Compassionate use is often not that compassionate. It’s trying to get access to a drug under an investigational new drug (IND) and creating a protocol for one individual. What is not always appreciated is while that sounds great, many steps go into that and it requires a lot of regulatory oversight, approval, and effort, which is not provided by a company or anyone. It’s the physician and whatever team members he can assemble to try to do that.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Although compassionate use is an opportunity to get a drug, it’s often an opportunity plagued by the realities of a very cumbersome bureaucratic system that doesn’t make it very easy and timely to get to that drug. Although it’s there and in some cases helpful, it’s not always practical or realistic for people to get compassionate use and sometimes the access to those drugs is restricted by the FDA and/or the sponsor.

But compassionate use can sometimes be an opportunity to get a drug that wouldn’t otherwise be eligible and that’s key. If there’s a trial that allows the patient to get access, they often will not provide compassionate use because it would be felt unethical to allow someone to get access to a drug while all other patients would have to go through the normal routine of the clinical trial. This has to fit very strict criteria and is not always achievable.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

The Future of Treatments for MPN Patients

Andrew: We have ASH in the rearview mirror. You have other conferences during the year and you’re speaking at a number of them. You’re actively involved in research and seeing patients as well. I want to get where your head’s at as far as promise in the field, how you feel about it, and what people can do about it.

Dr. Mascarenhas: We are way further ahead than we were in 2005, 2010, and 2015. I’ve watched the field grow in terms of our understanding, the amount of attention and support that’s provided to this rather small area of hematology from the federal government in terms of NIH grants — in which we indulge in getting to try to help move the field forward independent of pharmaceutical interests — but as well as pharmaceutical interest and philanthropy. They all help grease this machinery of translational research and understanding. We have cadres of smart, well-intentioned PhDs, MDs, and MD-PhDs that are helping us understand the biology and that is directly translating into the clinic to help us fine-tune our treatment.

We’re trying to understand how to get access to and develop multiple therapies that could be used in different subsets of patients or different combinations.

Dr. John Mascarenhas

You look at ASH or EHA and see endless abstracts of agents that we didn’t even know about or targets that we didn’t even understand 10 years ago. I have to believe that’s going to translate ultimately to better therapies and multiple therapies. I don’t think it’s going to be one therapy fits all. We’re trying to understand how to get access to and develop multiple therapies that could be used in different subsets of patients or different combinations and that is something that I do feel optimistic about. I would say we’re moving forward in 2025 and beyond in rational combinations and allowing science to drive the advancements.

You’ve known me for a long time. I always feel positive. I walk to work and I’m enthusiastic every day I come in because I believe in the mission. We’re making strides. I see it in the patients that I treat, but I believe it for the future.

What Patients Can Do to Alleviate Symptom Burden

Andrew: For a patient who has significant anemia, declining platelet counts, an enlarged spleen, or whatever symptom they’re experiencing, what can they do that could make a difference in the short term?

Dr. Mascarenhas: If you’re having symptom burden, particularly if it’s interfering with your quality of life and activities of daily living, you should see a physician who specializes in hematology and, ideally, someone who has expertise in this area.

The longer one delays starting therapy, the less likely that therapy will be effective and that the effects of that therapy will be durable.

Dr. John Mascarenhas

A JAK inhibitor is the front-line therapy to try to address those aspects. It doesn’t preclude one from looking at clinical trials that might even be combinations upfront of a JAK inhibitor plus an active agent to see if one can get even better, deeper, and earlier responses. But at the very least, a JAK inhibitor to try to address symptoms because you don’t get extra points for suffering through symptoms. It’s harder to rescue if one delays treatment. The data is very clear about that. The longer one delays starting therapy, the less likely that therapy will be effective and that the effects of that therapy will be durable.

Andrew: You may live at a distance from one of the major centers where there is an MPN specialist, but there are MPN specialists. You refer to cadres of researchers and physicians who are working in this area and it makes sense to have a consultation with somebody like Dr. Mascarenhas at Mount Sinai or my doctor, Dr. Jamieson at UC San Diego. Fortunately, many others are studying this and working on it and understand these nuances, so you get personalized care for where you are now and where you may be headed.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Final Takeaways on MPN Treatments

Andrew: This has been a helpful discussion. Is there anything you wanted to add, John, that we didn’t cover?

Dr. Mascarenhas: We covered all the major points and I conveyed my continued optimism. One boon that we have is it’s a very collaborative field. When you look at the abstracts, trials, and studies, you will see all the names that are listed, which reflects our collaborative nature. These are rare diseases. You can’t work in a silo. We’re all friends and colleagues. We all have a unified mission. We’re focused on that as an international team and that’s why I remain enthusiastic that we’re going to make the progress.

Andrew: Thank you for your collaboration and people. I’m seeing a lot of younger physicians and scientists interested in this area, so that gives us a great deal of hope. Dr. Mascarenhas, thank you for your devotion to us. We appreciate your time. We’re all bonded in this together. Remember: knowledge can be the best medicine of all.

Your MPN, Your Journey - How New Discoveries Will Impact Personalized Care

Conclusion

Tiffany: That discussion [ on MPN treatments ] was the definition of news you can use. Thank you, Dr. Mascarenhas and our patient advocate and moderator Andrew, for taking the time out of your busy schedules to keep The Patient Story community informed. If you are a patient, caregiver, partner, or advocate, consider being a voice leader in your community or with us at The Patient Story.

To be empowered is to be inspired. We want you to make informed decisions about your care and that includes being educated about the latest treatment options. Thank you again to our sponsors, Sobi and Incyte, for their support of our independent patient program and to all of our promotional partners. Until next time, I’m Tiffany Drummond, signing off and, on behalf of The Patient Story, thank you for watching.

Your MPN, Your Journey: How New Discoveries Will Impact Personalized Care
Hosted by The Patient Story Team
Dr. John Mascarenhas (Mount Sinai) and patient advocate Andrew Schorr share the latest breakthroughs in MPN care. Explore personalized treatments, cutting-edge therapies, and groundbreaking research that’s changing how MPNs are treated. Learn how new discoveries can improve your treatment options, help manage side effects, and enhance your quality of life.

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