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myelofibrosis Patient Stories

Holly’s Myelofibrosis Story

Holly’s Myelofibrosis Story

Interviewed by: Taylor Scheib
Edited by: Chris Sanchez

Holly was only 25 when she was diagnosed with primary myelofibrosis.

Holly’s diagnosis was only one of a series of sad and traumatic occurrences at that particular time in her life. She had earlier lost her unborn daughter at 32 weeks due to a blood clot that passed through her placenta, and had to be placed in intensive care afterwards due to the discovery of more blood clots elsewhere in her body. Two weeks afterwards, she experienced a seizure and thrombosis stroke. 

Over the succeeding year, Holly increasingly experienced symptoms that led to her undergoing a bone marrow biopsy, which revealed her cancer. What’s more, she discovered that her cancer might actually have had something to do with her daughter’s passing.

Holly continues to grieve her loss, but her life has begun to take a turn for the better. Her treatments have been effective—and she is now expecting another little girl. 

Holly’s story is a testament to her resilience, the inner strength she gained, and her ability to glimpse the blessings in her life behind all her negative experiences. She shares her story with us today to help others who may find themselves in similar situations. 

In addition to Holly’s narrative, The Patient Story offers a diverse collection of stories about myelofibrosis. These empowering stories provide real-life experiences, valuable insights, and perspectives on symptoms, diagnosis, and treatment options for cancer.


 
  • Name: Holly S.
  • Diagnosis:
    • Primary myelofibrosis
  • Initial Symptoms:
    • Severe fatigue
    • Throbbing pain in left calf
    • Significant weight loss
    • Itching and rashes
    • Bruising
    • Shortness of breath
  • Treatment:
    • Oral chemotherapy: hydroxyurea
    • Immunotherapy injections: peginterferon

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


I feel like I can overcome anything as long as I just remain positive.

Introduction

My name is Holly. I’m from Invercargill. It’s a small city at the bottom of New Zealand.

I am a single mum to a boy called Ambrose, who is five, turning six in October.

I was recently diagnosed with primary myelofibrosis in September of 2023.

And, yeah, just been navigating life as a single mum and just dedicating my time to him. Whilst dealing with this.

Pre-diagnosis

Initial symptoms

My first real symptoms of primary myelofibrosis basically start back in 2021 and April. 

I was 32 weeks with my daughter and I started getting pain in my calf, just throbbing pain.

So I was getting constant massages to try get rid of it. Initially thought it was pre-eclampsia. I was also experiencing extreme fatigue a lot throughout the pregnancy. 

And then one day I was in the supermarket and I started getting a lot of pressure in my abdomen. I didn’t really think much of it and went home. 

And then I started having contractions around 9 p.m. and they lasted until 3 a.m. I started experiencing fevers and sweats and because I had had such a horrible experience with my previous midwife, with my son, I left it and I didn’t want to bother my current midwife. 

And so then I’d contacted her in the morning about it, and we went down to the hospital. 

She did an ultrasound and found that there was no heartbeat. 

Loss of her daughter

So then I had to give birth to my daughter. And it was just a horrific, horrific delivery. 

Yeah, it lasted for a few days, and I was put on these inducing pills. They gave me too many of them. And her head basically went through my uterus; I suffered a uterine rupture during labor.

So then I was rushed into theatre, and I lost 1.5 to 1.7l of blood. After that, I was in an ICU for about a week due to complications, including pneumonia. 

I had a really high heart rate. I had heart failure. And they didn’t really understand what was going wrong.

And then they found that I had had a blood clot in my heart, in my lungs, and a DVT (deep vein thrombosis) in that right calf. So I’m guessing all the massaging had possibly broken the blood clot off into different parts of my organs. 

So they think they also think that it caused my daughter’s death. A blood clot had passed through my placenta, causing a placental abruption.

Seizure and stroke

So I left hospital, and then two weeks later, I had a seizure and a stroke, and I was rushed back into hospital. They had found that I had had a thrombosis stroke in my brain. 

So I was put on warfarin for well over six months max. And then, originally the hematologist thought that I had blood clotting disorder.

So she put me on warfarin, then took me off it for about a year just to see how my blood platelets were going to be. And they weren’t coming down, they were rising. 

Discovery and diagnosis

That’s when I started having my other symptoms. And they came on quite, quite quickly because I wasn’t on any sort of medication at that time. 

I started just being extremely, extremely fatigued. My arms were really, really weak. I lost 20kg without even trying, within 3 months. 

I started bruising, like all over my body and the weirdest places. Itching. Crashing randomly. Constant shortness of breath. 

It was it was horrible and I just I couldn’t function at all. Throughout the day. 

So then the doctor sent me to have a bone marrow biopsy. I was officially diagnosed with primary myelofibrosis in September 2023.

Reaction to the diagnosis

I guess that unknown feeling I felt within those two years of not knowing. It’s sort of hard to really know. I guess I was just going through day by day. 

I initially thought because I had two blood transfusions, I thought that it was all the blood transfusions that were actually causing all these symptoms, and I just thought that was normal. And I also thought because of all the physical complications I went through, my body was taking a longer time to try and heal from all of that. 

And then, straight after all of that, I was thrown straight back into being a parent, single parent. Yeah, it was pretty crazy.

So when I went in for the bone marrow biopsy, I felt really numb to it all, I think because so much had happened previously, I was just on autopilot, like, okay. Yep. We’ll do this. 

After I got the diagnosis, I was absolutely distraught because I didn’t know much about the disease at the time. 

And I didn’t know anything. If I was going to lose all my hair, or if I was going to have to take more time being away from my son. So many thoughts running through my head.

But there’s more. As it turns out, my cancer might have had something to do with my daughter’s passing.

When my cancer was diagnosed, they didn’t really say that they thought that I had it when my daughter had passed. It wasn’t until a few months ago that they had sort of written it in doctor’s notes, speculating that it had caused my daughter’s passing and that I’d had it while I was pregnant with her. 

But yeah, the feelings around it. I was more so angry at the hospital and my midwife for not monitoring me closely enough, but I guess they couldn’t really do anything about it. 

But yeah, it was a terrible, terrible time. I really lost myself and my relationship fell apart; I just wasn’t coping. 

I had turned to drinking a lot, so that was like my medication while trying to be a single mum and trying to just push, push forward. 

And yeah, so when they had told me that they thought that I might have had it when I was pregnant with my daughter, I’d already had a huge feeling that it had caused it before they even said anything.

Treatment

Oral chemotherapy: hydroxyurea

My treatment plan was to go on an oral chemotherapy called hydroxyurea

So I started on 500mg. My platelets weren’t really doing anything. So they were going to double the dosage. 

Discovery of pregnancy, and shift to immunotherapy injections: peginterferon

And then a week later I found out I was pregnant. And I was a mess because I thought, I’m gonna have to terminate this baby. 

Then they congratulated me, and put me on peginterferon. It’s immunotherapy that’s administered through an injection. I do this myself, once a week, on Sunday nights.

So I’ve been on peginterferon and aspirin, um, throughout this pregnancy and it’s brought my platelets right down. 

I’m also on clexane as well, just to prevent blood clotting.

I’ve been in normal range for the last few months, and I’ve felt the best that I’ve felt in the last few years, and everything’s just looking amazing with this pregnancy. 

So I’ve been really privileged, even, I guess, divinely orchestrated.

Side effects

That being said, I’ve been experiencing some side effects for the immunotherapy.

I’ve had a lot of hair thinning, acne, a lot of fatigue. And loss of appetite. I don’t really have much of an appetite. I’ve started bruising again, too.

But I actually had more symptoms with the hydroxyurea than I did with the peginterferon.

So at this point I don’t have any bone marrow scarring. I just have a lot of fibrosis.

Looking forward

New treatment plans haven’t been discussed with me at all because I’m pre fibrotic with the primary myelofibrosis. 

So they for now they haven’t discussed anything with me. And I am open to other treatments if need be. 

A stem cell transplant has been brought up. But I’m sort of on the fence about it, because I’ve heard such horrific stories of people that have gone through it.

I don’t know if I want to put myself through that.

… over time, this cancer, it’s really taught me how resilient I am. And how much I’ve just trusted that whatever’s meant for me is meant for me. 

Even if the cancer does get worse over time, it really has taught me to live in the moment and live in stillness and just be grateful for even the smallest things. 

Takeaways and lessons

In the beginning my mental health was really, really bad. I was thinking the worst of everything. 

But then over time, this myelofibrosis, it’s really taught me how resilient I am. And how much I’ve just trusted that whatever’s meant for me is meant for me. 

Even if the cancer does get worse over time, it really has taught me to live in the moment and live in stillness and just be grateful for even the smallest things. 

Yeah, it’s been a huge challenge, but it’s been one of the best things to happen to me as regards my mindset. 

I feel like I can overcome anything as long as I just remain positive.

I guess I also really started to find myself. After I got diagnosed with myelofibrosis, I had an answer as to why my daughter passed away. And then I knew that it wasn’t my fault, because for a long time I blamed myself. And I felt that I could finally move forward. I had that closure.

Then that’s when the healing really started. So when, when they got the diagnosis, the healing really started. So I guess it was a little blessing in disguise, even though it was what caused it all.

Now, I’m pregnant with another little girl. I have obstetricians monitoring me every four weeks, and also multiple scans. 

I am 33 weeks at the moment, and they’ve planned all these scans to make sure that everything’s fine. I’ve got phone consults with my hematologist, monthly blood tests. 

And my midwife, she’s amazing. She was like, don’t worry. If you know you have an issue, just ring me and I’ll come down in the middle of the night. We can check. She’s very, very onto it. 

And she’s always happy to do extra tests and scans and things to make sure that everything’s good. So they’ve really looked after me now, this time round.

I’m due on the 2nd of July, but they’re going to get me an early C-section at 37 weeks due to the uterine rupture that I previously had.

In closing, I guess my message is, you know your body better than anybody else does. 

If you have an inkling of whether you’re pregnant or you may have cancer if you have an inkling that there’s something wrong—put yourself first and go and get it checked.


Thank you for sharing your story, Holly!

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Categories
FAQ Lung Cancer

Biomarker Testing

Biomarker Testing

You may have heard your care team mention the possibility of biomarker testing when trying to develop a plan of action for diagnosis or a potential diagnosis of cancer. While biomarker testing has been around since the 1950s, it’s not a term you come across often if you aren’t in the medical field. 

Biomarker testing is an effective tool for doctors to help identify targeted therapies for driver mutations or issues with the immune system for cancer patients. 

In this article, we will help you better understand what biomarker testing is and answer any questions that you may have about biomarker testing. This way you can make an informed decision about what is best for you and your body. 

What is Biomarker Testing?

Biomarker testing, also known as molecular or genomic testing, is the use of a laboratory test to measure biomarkers found in your bodily fluids or tissue. A biomarker is a biological molecule found in any bodily fluid that may indicate a sign of abnormality as in a disease or a condition. 

Doctors are able to use the tissue of a tumor to test for abnormalities in its DNA and levels of specific proteins in the tumor in order to identify what is causing the tumor to grow. In turn, they can then apply targeted therapy that will help remove the cancerous cells without damaging healthy cells. 

Why is Biomarker Testing Useful for Cancer Patients?

Biomarker testing is a great tool for cancer patients because it allows your care team to diagnose the type of cancer. This in turn can help your doctor determine the best treatment plan.

According to the National Cancer Institute (NCI), biomarker testing can also be used to identify genes the may lead to cancer or see how your treatment plan is progressing. 

“It’s helped us on three different occasions not only with diagnosis, but on each time that he had progression of his cancer, the liquid biopsy was able to say, here’s the mutation, here’s the new mutation, and here’s the direction the clear plot path that you need to take for survival.”

Read more about Rhonda’s success with Biomarkers

When Should I Consider Biomarker Testing?

The National Institutes of Health recommends biomarker testing for all patients with non-small cell lung cancer. Biomarker testing can also be useful for several other types of cancer including melanoma and breast cancer.

Three key times you should consider asking your doctor about biomarker testing are:

  • When your doctor suspects cancer and you are getting a biopsy done.
  • If you have been diagnosed with cancer but did not get biomarker testing done.
  • If lung cancer reoccurs after treatment

Essentially, if you are diagnosed with lung cancer you should discuss the potential for biomarker testing with your doctor.

“I wish I had actually asked for the full biomarker testing to see what their report was and ask questions about it. Cancer runs in my family, but I had done genetic testing. I didn’t understand this was different testing.”

Read More about Terri’s lung cancer story

Which Types of Biomarker Testing Should I Be Asking For?

There are two types of biomarker testing that should be done if you’ve been diagnosed with or your doctor suspects lung cancer:

  • Driver Mutations – an error in a gene’s DNA
  • Expression of PD-L1 – an immunotherapy biomarker

Let’s dive further into the two types of biomarker testing to understand what they indicate and how they impact your treatment plan.

Driver Mutations

In order to understand driver mutations, it’s important to understand the basics of how genes and DNA work. 

DNA makes up genes. When everything is working normally each gene has its proper DNA code which then results in the production of proteins. 

mutation occurs when a gene has an error in its DNA. Mutations are normal and happen often. A single mutation likely won’t cause cancer; however, the accumulation of multiple mutations over time is what typically results in cancer. 

Mutations are often sorted into two general categories:

  • Somatic (acquired) – The mutation is limited to just the tumor and is not passed to offspring.
  • Germline (inherited) – The mutation is present in all cells of the body and can be passed to offspring. 

There are several different types of driver mutations that can result in cancer. Some of the most common ones include:

  • Activating Mutation – The protein is always active.
  • Fusion – The fusion of one gene with another.
  • Amplification – More copies of a gene than normal.
  • Deletion – Part of or the entire gene is missing. 

Research has so far found 20 different driver mutations commonly found in non-small cell lung cancer treatment and small cell lung cancer treatment. Much more research is needed to continue identifying the potential mutations and develop targeted therapies. 

Expression of Programmed Death Ligand 1 (PD-L1)

The testing of your PD-L1 levels is what helps identify if you need immunotherapy. According to the National Library of Medicine, a PD-L1 test helps measure the amount of PD-L1 on cancer cells. 

This is important because PD-L1 proteins are what prevent your T-cells, otherwise known as immune cells, from attacking the cancer cells. Essentially, the abnormal cancer cells are hiding behind the PD-L1 proteins to stop your body from doing its job.

To learn more about immunotherapy visit our FAQ page.

“If you catch a patient stage one, you can have a greater than 90% chance of curing that patient from lung cancer. So that’s what it’s all about.”

– Dr. Michael Gieske

Read more about Dr. Gieske’s fight for early lung cancer screening.

Are There Different Types of Biomarker Testing?

Yes, there are several different biomarker tests that can be done. The type of biomarkers and test that is performed depends on the type of cancer that you may have. 

Some common tests include:

  • Single Biomarker Test – Only looking for one single biomarker.
  • Multigene Test – Looking at a panel of several different biomarkers.
  • Whole-Exome Sequencing – Looking at all of the genes in your cancer.
  • Whole-Genome Sequencing – Looking at all of the DNA in your cancer.
  • Tumor Mutational Burden Testing – Looking at genetic changes in your cancer to determine if you need immunotherapy.
  • Liquid Biopsies – Assessing blood or other bodily fluids for biomarkers.

The type of biomarker that is run depends on your cancer type and what your doctor is trying to learn from the test. 

How is Biomarker Testing Done?

An important part of deciding if biomarker testing is right for you may be how the actual test is performed. The test can be done in one of three ways depending on the type of biomarkers that are being tested for:

  • If you are having surgery, the surgeon can take a sample of your tumor during the operation.
  • They may need to take a biopsy of your tumor if you aren’t having surgery.
  • Some biomarker tests can be completed using just a blood draw.

In some instances, you may need to get an additional biopsy done if the cancer is reoccurring, or they didn’t get enough tissue to complete the test.

What Will My Biomarker Test Reveal?

The results of your biomarker test may help identify the best course of treatment by indicating what type of mutation is causing your cancer or if you are a candidate for immunotherapy. If there is an FDA-approved drug to treat your results you may be able to avoid chemotherapy or even potentially surgery.

“Research is going to biomarker testing that’s going towards targeted therapy. That’s the future of cancer care. That’s not just about lung cancer. So as we make it more people more aware of biomarker testing that goes across all cancers, that’s an education that is critical research.”

Read more about Chris Draft’s experience with lung cancer and his efforts to build awareness.

Biomarker Testing Patient Stories

Learn about how biomarkers impact a cancer diagnosis and treatment from real-life patients.

Lung Cancer

Chris Draft



Background: Chris' wife Keasha passed away from stage 4 lung cancer one month after they married. He's been a passionate lung cancer advocate ever since.
Focus: Leading with love, making connections to grow lung cancer community, NFL liaison

Rhonda & Jeff Meckstroth



Background: Jeff was diagnosed with stage 4 lung cancer and given months to live, but his wife, Rhonda, fought for a specialist that led to biomarker testing and better treatment options
Focus: Education of biomarker testing for driver mutations, patient and caregiver self-advocacy

Terri C., Non-Small Cell Lung Cancer, KRAS+, Stage 3A



Symptoms: Respiratory problems
Treatment: Chemotherapy (cisplatin & pemetrexed), surgery (lobectomy), microwave ablation, SBRT radiation

Stephen H., Non-Small Cell, ALK+, Stage 4 (Metastatic)



Cancer details: ALK+ occurs in 1 out of 25 non-small cell lung cancer patients
1st Symptoms: Shortness of breath, jabbing pain while talking, wheezing at night
Treatment: Targeted therapy (alectinib), stereotactic body radiation therapy (SBRT)

Shyreece P., Non-Small Cell, ALK+, Stage 4



Cancer details: ALK+ occurs in 1 out of 25 non-small cell lung cancer patients
1st Symptoms: Heaviness in arms, wheezing, fatigue
Treatment: IV chemo (carboplatin/pemetrexed/bevacizumab), targeted therapy (crizotinib, alectinib)
Breast Cancer

Abigail J., Metastatic Breast Cancer, HER2-low, PIK3CA+



Symptoms: Back and leg pain, lump in breast



Treatments: Surgery, chemotherapy, radiation, CDK4/6 inhibitors
Leukemia
Mary Clare

Mary Clare B., Acute Myeloid Leukemia (AML)



Cancer details: Relapsed but in remission after 2nd transplant
1st symptoms: Extreme fatigue, upset stomach, bad & persistent headaches
Treatment: Chemotherapy, radiation, 2 bone marrow transplants

Medical Experts on Biomarkers

Dr. Saad Usmani

Saad Z. Usmani, MD



Dr. Saad Usmani, Chief of Myeloma Service at Memorial Sloan Kettering, talks about CAR T-cell therapy, bispecific antibodies, novel therapies and combination therapies.

Deciding Best Myeloma Treatment for a Patient Using a New Strategy



Focus: Possible way of determining optimal treatment for patients without them having to go through treatment first, via using new approaches of studying tumors outside the body, gene expression, and computational data.
Featuring: Praneeth Sudalagunta, Ph.D, Moffitt Cancer Center

Tim Fenske, MD, MS



Role: Hematologist-Oncologist
Focus: chronic lymphocytic leukemia (CLL) & leukemia and lymphoma | CAR T, targeted therapy
Provider: Medical College of Wisconsin

Irene Ghobrial, MD



Role: Clinical investigator and professor of hematological oncology
Focus: Multiple myeloma, Waldenström’s Macroglobulinemia, early screening, clinical trials
Provider:Dana-Farber Cancer Institute (Boston)