Category Archives: Blog Living in Paradox

MPN Word of the Month: Genetic Mutations

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Understanding Genetic Mutations in Myeloproliferative Neoplasms (MPNs)

A Quick Recap: What Are MPNs?

MPNs are a group of blood cancers that cause your bone marrow to produce too many blood cells. The three most common types are:

1. Polycythemia vera (PV) – where the body makes too many red blood cells.
2. Essential thrombocythemia (ET) – where the body produces too many platelets.
3. Primary myelofibrosis (PMF) – characterized by scarring of the bone marrow, which can lead to anemia, fatigue, and other complications.
A key driver of these conditions is genetic mutations, which affect how your blood cells grow and develop.

What Are Genetic Mutations?
A genetic mutation is a change in the DNA sequence. DNA is the instruction manual that tells our cells how to function, grow, and repair themselves. When a mutation occurs, it can disrupt these instructions and cause cells to behave abnormally—such as producing too many blood cells, which happens in MPNs.

Somatic Mutations and MPNs
Most of the genetic mutations associated with MPNs are somatic mutations. But what exactly does that mean?

● Somatic mutations are genetic changes that occur after birth, rather than being inherited from a parent. These mutations happen in specific cells, such as blood cells, and are not passed on to children.
● In the case of MPNs, somatic mutations occur in the hematopoietic stem cells—the cells in your bone marrow responsible for producing blood cells. When these stem cells acquire mutations, they can start producing too many blood cells, leading to the development of an MPN.

Understanding that MPNs are driven by somatic mutations is important because it helps explain why people develop these conditions later in life and why the mutations only affect blood cell production rather than all cells in the body.

Key Genetic Mutations in MPNs

There are several genetic mutations commonly associated with MPNs. The three most important ones to understand are JAK2, CALR, and MPL. Let’s take a closer look at each:

1. JAK2 Mutation (Janus Kinase 2)

○ What it is: JAK2 mutations are the most common genetic changes seen in MPNs, particularly in PV, where it’s found in about 95% of patients. It’s also present in approximately 50-60% of people with ET or PMF.
○ What it does: The JAK2 gene plays a key role in regulating blood cell production. When mutated, it sends constant signals to produce blood cells—even when your body doesn’t need them. This can lead to the overproduction of red blood cells, platelets, or other blood cells, depending on the type of MPN.
○ What it means for you: If you have a JAK2 mutation, your treatment plan may include JAK inhibitors, a type of medication that can reduce the activity of the mutated gene and help control your blood cell counts.

2. CALR Mutation (Calreticulin)

○ What it is: CALR mutations are found in about 20-25% of patients with ET and PMF, but not in PV. This mutation is the second most common genetic change in MPNs.
○ What it does: CALR mutations lead to overproduction of platelets or scarring of the bone marrow, depending on your specific condition. However, patients with CALR mutations tend to have a more favorable prognosis compared to those with JAK2 mutations, particularly in PMF.
○ What it means for you: Knowing that you have a CALR mutation can help guide your treatment options and give insight into your likely disease course. People with this mutation tend to have lower risks of blood clots compared to those with JAK2 mutations.

3. MPL Mutation (Myeloproliferative Leukemia Virus Oncogene)

○ What it is: MPL mutations are found in about 5-10% of patients with ET or PMF, but are not usually associated with PV.
○ What it does: MPL mutations cause abnormal signaling in blood cell production, similar to JAK2. This results in an overproduction of platelets and can contribute to bone marrow scarring in PMF.
○ What it means for you: MPL mutations are less common, but knowing you have this mutation can help your healthcare provider tailor your treatment and monitoring strategy, particularly when managing PMF.

Other Less Common Mutations
In addition to these key mutations, there are other genetic changes that can occur in MPNs, including ASXL1, TET2, and EZH2. These mutations are often referred to as “high-risk mutations” because they can affect the severity of the disease and the likelihood of progression to more serious conditions, such as acute myeloid leukemia (AML).

If you have one or more of these additional mutations, your doctor may recommend more aggressive monitoring or treatment to prevent complications.

Why Do Genetic Mutations Matter in MPNs?
Understanding your genetic mutation can give you important insights into your condition. Here’s why it matters:

● Prognosis: Some mutations are associated with a more aggressive disease course, while others may indicate a more stable condition. For example, patients with CALR mutations often have a better prognosis than those with JAK2 or MPL mutations.
● Treatment Options: Certain treatments may be more effective depending on your mutation. For instance, JAK inhibitors are often used to manage patients with a JAK2 mutation, while other therapies might be considered for patients with CALR or MPL
mutations.
● Risk of Complications: The type of mutation you have may affect your risk of developing complications like blood clots, bone marrow scarring, or progression to leukemia.

How Are Genetic Mutations Detected?

Your healthcare provider can determine if you have a specific genetic mutation through a bone marrow biopsy or a blood test. Genetic testing is an important part of diagnosing and managing MPNs, as it helps to confirm the type of MPN you have and guides treatment decisions.
Moving Forward: How to Manage Your MPN Based on Your Mutation If you’ve been diagnosed with an MPN and your genetic mutation has been identified, here are a few things to keep in mind:

1. Ask Questions: Don’t hesitate to ask your doctor about your specific mutation and what it means for your condition. Understanding your mutation can help you make informed decisions about your care.
2. Personalized Treatment: Treatments are becoming more targeted based on the specific mutations driving your disease. Work with your healthcare team to find the best approach for your mutation.
3. Regular Monitoring: MPNs can change over time, so regular check-ups and blood tests are essential. This allows your healthcare team to adjust your treatment as needed based on any new developments.

4. Support: Dealing with an MPN can feel overwhelming, but remember you’re not alone. Joining support groups or seeking counseling can help you cope with the emotional aspects of your diagnosis.

Genetic mutations, especially somatic mutations, are the driving force behind MPNs,influencing how the disease behaves and how it can be treated. By understanding the role of mutations like JAK2, CALR, and MPL, you can take an active role in managing your condition.
Genetic testing provides a clearer picture of your specific type of MPN, allowing your healthcare team to personalize your treatment and monitor your disease effectively.

In the Trenches: Dr. Anthony Hunter

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1. Why did you choose hematology as a specialty, specifically MPNs?

There was no singular moment that I knew this would be my career path. I have always been fascinated by the biology and genetics of blood cancers. As I was exposed to clinical care throughout my medical training, I continually found myself drawn to patients with hematologic malignancies. I find MPNs in particular to be such unique diseases, and have observed the significant unmet clinical need within the field. Most importantly, I greatly enjoy the ability to develop a long-term relationship with my MPN patients and to hopefully have a positive impact on their lives.

2. Can you share your approach to MPN patient care?

If I can summarize this in four words, I would describe my approach as 1) informative, 2) patient-centered, 3) individualized, and 4) proactive. I find that many patients who arrive at my clinic do not have a sufficient understanding of their disease, even those who have been dealing with their disease for many years. With all of my patients, I try to educate and provide a thorough understanding of their disease. Particularly at initial consultations, I spend a great detail of time discussing their disease, including the biology of MPNs, how we diagnose them, the potential complications, as well as the available potential treatment options. I find that providing this thorough overview helps patients to feel empowered and more in control of their disease, and provides a good framework for further discussions moving forward. As we develop diagnostic, treatment, and monitoring plans, I feel strongly that there is no “one-size-fits-all” approach. Every patient is unique, and I try to discuss all reasonable paths forward with my patients taking into account their health, personal goals, and concerns, as well as their unique disease characteristics. I feel that shared decision-making is vital to determining a treatment plan that works for all involved parties. Lastly, the clinical care of MPNs has historically taken a more passive approach. I feel that a proactive approach is more appropriate given our current understanding of MPNs and the available treatments, and seek to employ this in my practice. Despite many advances in the past decade, we have a long way to go in improving and extending the lives of patients with MPNs. I remain actively involved in cutting-edge MPN research, integrating this into the clinical care of my patients as appropriate.

3. What advice would you impart to MPN patients?

I’m going to cheat here and give two because I think that they are both important. The first is that “knowledge is power”; cliché, I know! However, it is vital to learn about your disease and understand the potential complications that could arise, what treatments are available to you, and what you should be watching out for. Along those same lines, it is important to recognize that you will always be your own strongest advocate. It’s critical to actively participate in your care journey and speak up if you have concerns. There are many great physicians out there, but we are human; it is important to express your fears and concerns and to seek out the care team that best fits you.

MPN Word of the Month: Thrombocytosis

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Thrombocytosis is significant in MPNs because one of the hallmark features of some MPNs, like Essential Thrombocythemia (ET), is the excessive production of platelets. This overproduction can lead to complications, such as blood clotting disorders, which can result in strokes, heart attacks, or other serious vascular issues.

Thrombocytosis is typically detected through routine blood tests. A complete blood count (CBC) will reveal an elevated platelet count, often leading to further investigations to determine the underlying cause, such as an MPN.

Managing thrombocytosis is crucial in MPN patients. Treatments may include medications to reduce the platelet count and to lower the risk of clotting. In some cases, lifestyle changes, such as maintaining a healthy weight and avoiding smoking, can also help manage the risks associated with high platelet counts.

Understanding the word “thrombocytosis” is essential for anyone dealing with Myeloproliferative Neoplasms. It highlights one of the primary issues these patients may face: an overabundance of platelets that can lead to severe health complications. By familiarizing yourself with this term, you’ll have a better grasp of the challenges and treatments associated with MPNs, making the complex world of blood disorders a bit more understandable.

A Patient’s Story: Advocating for your Care

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By Sherri J.

My platelets were reported to be above 450 in 2015 at my first doctor’s appointment after returning to the United States from an 11-year assignment in Italy. My doctor told me it was nothing to worry about, to take a low-dose aspirin, and he would watch it. I inquired a time or two at follow-up appointments but was assured not to worry, without any explanation. Every time I got tested it was above normal, but I knew nothing about the seriousness of a potential MPN issue.

About a year ago I started having what I know now to be increasing symptoms of ET. I felt as if I was significantly aging with fatigue, lack of appetite, headaches, dizziness. Over the next 3 to 4 months, the symptoms became unbearable. I blamed all of my symptoms on other things: stress and anxiety, menopause, allergies, work life balance issues, my diabetes, my pursuit for my doctorate while working a fast pace full time job with 5 hours or less of sleep. You name it, I was able to tie almost every issue that I was experiencing to something else, so I never brought things up to the same doctor. Soon my platelet count jumped almost 100K and that was after a steady incline over the previous year. My PCP finally put some things together and decided it was time to see an oncologist.

The oncologist I saw was not an MPN specialist. My first sign that this oncologist was not a good match for me was at the initial appointment, I shared in writing and verbally my complete history, chief symptom complaints, and as he was leaving the room, he told me my platelet count wasn’t high enough to cause symptoms for what he has seen with other patients. He totally wrote it off. I didn’t say anything at the time because getting into specialists in my area is quite difficult. I told my husband on the way home, this was not the doctor for me.

The doctor did run extensive bloodwork, and one significant finding was that I am JAK2 positive. Knowing I was JAK2 positive, I decided to call UVA who has MPN experts and see if they were accepting new patients. She was surprised the first doctor did not order a BMB and said I would have that procedure the day of my first appointment if I agreed to it. An hour before my scheduled appointment, the doctor called and advised me I was JAK2 positive and to come back in 3 months. I asked him “what about my symptoms?” He said take a low dose aspirin and he would see me in 3 months, gave me a 1-minute explanation that I likely have an MPN. No talk about a BMB, any treatment, risks, explanation of what an MPN is, nothing.

From the moment I walked up to the desk at the UVA Cancer Center, I felt I made the right decision. I handed the intake nurse the same organized document and she passed it to the doctor before he came in. He was so happy to have that information and said he wishes more patients did that. He spent over an hour with my husband and me explaining what an MPN is, what the test results I had meant, what he would learn from the BMB, what each outcome could be (PV, ET, MF). He explained progression. He made sure every question was asked and fully answered. I advised him that my relationship with my medical team would be just as important as my treatment and that I wanted to feel as if I had a seat at the table for treatment planning. I knew I was in the right place.

Once my BMB confirmed my diagnosis, my doctor felt Besremi was the best course of treatment, but insurance approval could be an obstacle until it is FDA approved. We agreed I would start on 500 mg of Hydroxyurea twice a day and continue the low dose aspirin. At my next follow-up my platelets came down, the doctor said I wasn’t resistant to HU but I wasn’t tolerating it well, so he wanted to approach my insurance company about the Besremi and got approved a few days later.

After some tweaks of my dosing and some side effects, my numbers were perfect and what my doctor was hoping to see. Although my blood counts were all in line, I still have pretty significant symptoms, so he increased my dose of Besremi which really helped. I decreased HU to one 500 mg dose on Monday only. He said I’m super reactive and I may not have to go up to 500 mcg of the Besremi. The trial pushes folks as high as they can stand but he doesn’t think it is always necessary.

So as of early September, clinically, I am in good shape and any raises in the dosage will alleviate my symptoms, the worst are fatigue and headaches. He will continue biweekly dosage increases up to 300 mcg as long as I can tolerate it. He will then leave it up to me whether to titrate or not. There is a balancing act between toxicity and alleviating symptoms, so my feedback is important to him. My doctor is hopeful because HU brought my numbers down and Besremi made them perfect after only two doses. He has seen that that HU success coincides with success with Besremi.

Mindfulness Minute: Sitting With Uncomfortable Feelings

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By Natalie Giocondo

One of the benefits of regular yoga and meditation practice is the cultivation of tolerance. We become more tolerant of ourselves, more tolerant of others, and more tolerant of the way things are.

A dear friend and mentor, Ken Rosen, once told me that suffering is the place that exists between what is and what we want it to be. Ken was an MPN patient, a Zen Buddhist teacher, and a therapist who passed away not long after he presented on Mindfulness at an MPNA&EI conference in 2018. His yoga and meditation practice helped him to manage his yearslong experience with essential thrombocythemia, gave him peace during a major thrombotic episode that resulted in a month-long hospital stay, and I believe it gave him peace during the last months of his life.

Sitting with uncomfortable feelings is not just a useful skill when we are faced with illness or mortality, it also comes in handy when we are in a hurry and stuck behind a chatty Cathy in the supermarket checkout, or when someone cuts us off in traffic, or when we are waiting for important news. In many of these scenarios, our sympathetic nervous system is triggered and the body tells the mind to respond. This process, while useful in survival situations, is not so good for us when it happens multiple times a day or week and can produce.

In a recent Conversation with an MPN Specialist, Dr. Ellen Richie touched on some things we can do to reduce the body’s inflammatory response in addition to a low-inflammation diet, such as reducing stress by disconnecting from technology for periods of the day, finding quiet time, or listening to good music.

Another way to lower stress is to learn how to better tolerate it by practicing yoga and meditation. Now, this is not a no pain, no gain philosophy so when we talk about tolerating stress here, we do not mean how to grin and bear it. Instead, we learn to better observe the way our mind behaves when stress arises and then we train it to behave in a way that better supports us. The result? Stress reduction.

Join us online Thursday, April 18th from 12:00-12:40 pm EST for a Yin-Yoga practice. Yin-Yoga requires longer holds in each pose to encourage the fascia (webbing around the muscles) to release. Longer holds also allow us to sit and observe our body and mind. This is a great practice to create flexibility in the body and mind.

A Patient Story: If I Only Knew

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I’m 38 today and was diagnosed with ET at age 21 while in college in 2007, following a routine blood test. I took the blood test so that I could donate bone marrow to earn money ($400 at the time) for an upcoming study abroad trip. Apart from the increased platelet count, I did not have other noticeable symptoms.  The blood test results indicated an increased platelet count, and I was not permitted to donate bone marrow.  I underwent a bone marrow biopsy many months later, which confirmed the diagnosis of ET. I am JAK2+.
Between that time period in college and today, I’ve been on and off hydroxyurea, on and off baby aspirin, got married, had two children, learned more about bleeding and other symptoms related to high platelet counts and have met new members of the MPN community. I wish I knew then how much hormone levels and clotting issues can impact women’s reproductive health. Interestingly, I learned after my son was born that I also carry the gene for hemophilia A, an incurable bleeding disorder. Call me if you’d like to talk about both clotting or bleeding!
These days, I do occasionally experience incredible fatigue and frequently find myself scratching itchy skin (particularly after the shower) and have noticed some vision changes but am not sure if that can be attributed to ET. Today, I’m so grateful for the knowledge I’ve gained and the support available to me in the MPN community, especially MPN Advocacy and Education International.

Caregivers Are In Good Company

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“There are only four kinds of people in the world: Those who have been caregivers. Those who

are currently caregivers. Those who will be caregivers, and those who will need a caregiver.”

– Rosalyn Carter

 

After caring for her father who passed from terminal leukemia when she was just 12 years old, Rosalyn Carter found herself caring for her widowed elderly grandfather. These early life experiences prompted former First Lady Rosalyn Carter to start the Rosalyn Carter Institute for Caregivers (RCIFG).

According to the RCIFG, there are currently 53 million caregivers in America. While each caregiver experience has its own unique set of circumstances, there are some experiences that were shared across cultures and disease-type. Issues such as finding time for self-care, building a caregiver support community, juggling complex schedules, increased financial burden, missing work, having to leave the workforce prematurely, or having to return to the workforce, possible feelings of exhaustion, guilt, resentment, and alienation from friends and family are some commonly reported experiences. Interestingly, in spite of the large number of caregivers in the US, the feeling most often communicated is that of isolation.

Here at MPNA&EI we want you to know that caregivers are in good company. We will have our first monthly online caregiver support group meeting on Thursday, February 15th from 12:00-1:00 pm EST. We would like this first meeting to be a time to connect, share information and set up for our subsequent meetings. Over the course of the year, we will discuss a range of topics from building relationships with professional caregivers to increase cooperation, understanding, and support, learning ways to cope with the stressors of being a caregiver, accessing resources, discovering ways to work together with others to reduce frustrations and barriers in the caregiver role, sharing common concerns, and most importantly recognizing that caregivers are not alone.

In the meantime, here are 10 tips for caregivers from the Caregiver Action Network:

  1. Connect with other caregivers (which you can do at our caregiver support group meeting on February 15th)
  2. Don’t forget to take care of your own health.
  3. Accept offers to help and suggest things people can do to help.
  4. Learn how to communicate effectively with doctors.
  5. Be open to new technologies that could help.
  6. Watch for signs of depression.
  7. Take breaks.
  8. Organize medical information so it’s up-to-date and easy to find.
  9. Make sure legal documents are in order
  10. Give yourself credit for doing the best you can at one of the toughest jobs!

A Patient Story: Labor of Love

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I have been living with an MPN for thirty-four years and sometimes that’s hard to believe!

When I was a young thirty years old, I was diagnosed with Essential Thrombocythemia.  After several years of adjusting to that diagnosis, my life became very routine.  I was working part-time as a teacher, raising two kids, and my husband and I were foster parents.  And six years after my diagnosis we adopted our third child.

Time moved along and in 2016 I was diagnosed with Myelofibrosis. Although I always knew that myelofibrosis was a possibility, I must admit the diagnosis shocked me.  Treatment started and we met with a transplant doctor to search for a donor. Much to our surprise we discovered that I had no donors in the registry.  I was also told that I would have less than a 1% chance of finding a matched donor due to having not one, but two rare HLA markers.

That disappointment was the motivation I needed to start helping myself and others.  My community helped me host donor drives and raise money for BeTheMatch.  We added over one thousand donors to the registry in three donor drives! I joined Facebook groups specifically for myelofibrosis and from these groups, I learned that patients consider the date they receive their new stem cells as their new birthday.

Even though a transplant was not going to be in my near future, I wanted to spread joy to those having a stem cell transplant.  I started making personalized “Happy Birthday” pillowcases and looked for patients in the Facebook groups posting about their upcoming transplants. The pillowcases are made from fabric printed with Happy Birthday, and I add a colorful border that has their name embroidered on it. Before I ship the pillowcases, I take a picture and post it to the Facebook page which allows me to get the word out that I gift pillowcases and for other group members to post well wishes. Now about 40% of the pillowcases I ship are based on requests and that makes me very happy!

Since I started making the pillowcases in the Fall of 2016, I have shipped two hundred ninety-two pillowcases to forty-one states and to seven countries!

I have found different kinds of happy birthday fabric so the patient never knows what design they will receive.  My pillowcases are made with prayers for the patient’s peace, patience, and perseverance as they recover.

I’ve come to realize that my diagnosis with not one, but two MPNs has become a real blessing to me.  We would not have adopted our youngest child without this diagnosis, I would not have had so many friends and family tell me how much I mean to them without this diagnosis, and I would not have been able to spread so much joy through the gift of the pillowcases without this diagnosis.

I feel that my life is like a book. It is up to me to decide how I am going to fill those pages. I have been blessed by a God who loves me fiercely and has given me an attitude of gratitude. So, I will fill those pages with goodness and work on blessing others.

Interview with a Patient: Making the Decision to have a Transplant

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Andrea was initially diagnosed with essential thrombocythemia after her primary care doctor noticed her platelets steadily rising. Ten years later it had progressed to myelofibrosis. She lives in Texas with her wife (and caregiver), three dogs and one cat. After working with American Airlines and Sabre Holdings for 30 years she chose an early retirement and pursued other opportunities, including working in a bike shop (she’s an avid cyclist), flower shop, consulting firm and for the last six years with Apple. 
What made you decide to have a Stem Cell Transplant (SCT)?
It was an exceptionally hard decision to make. I struggled with it up to and including the day before transplant. I had been feeling good, I was in and out of several clinical trials, the last of which had worked well for six years. But I realized my options for the future were very limited. I had become red blood cell transfusion dependent. My age was advancing, I had exhausted all relevant clinical trials and available drugs and I was physically pushing harder to do things I loved. It was clear to me that waiting “it” out and hoping for another miracle drug or a SCT were my only options.
How did you prepare for the procedure?
I like to be as prepared as possible, so I found speaking with actual survivors helped me get answers to all my questions that doctors may not have known or had time for. I spoke to several SCT recipients, especially those who had the same MPN as me. I read as much information as possible such as newsletters, blogs, and other online sources. It did not dwell on the less positive comments! Gathering as much information as possible from a variety of sources gave me an idea of what was to come. Keeping in mind that everyone is different, everyone I connected with gave me tidbits that I could refer to before, during and after transplant.
Andrea was initially diagnosed with essential thrombocythemia after her primary care doctor noticed her platelets steadily rising. Ten years later it had progressed to myelofibrosis. She lives in Texas with her husband (and caregiver), three dogs and one cat. After working with American Airlines and Sabre Holdings for 30 years she chose an early retirement and pursued other opportunities, including working in a bike shop (she’s an avid cyclist), flower shop, consulting firm and for the last six years with Apple. 

 

A Mother’s Story: Children DO Get MPNs-Our Loss May Save Your Child

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In memory of Jordan

In 2014, our daughter Jordan, age 14, complained of headaches and neck pain. Ultimately the doctors diagnosed her with mastoiditis, with a rare complication of cerebral venous sinus thrombosis (a 5% chance of that complication). The doctors then fixated on a diagnosis of migraines before, during and after shunt evaluations, placement and revisions.

In January 2015, unbeknownst to us, one doctor mentioned polycythemia vera as a possible diagnosis. He requested a hematology consult, but no action was taken. Due to the CVST, Jordan developed papilledema and required shunting due to intracranial hypertension. She was at risk of losing her vision.

Jordan suffered from headaches, nausea, vomiting, blurry vision, joint and bone aches and pains, and itching which was diagnosed as an allergic reaction to medication she had taken. Nobody looked at the bigger picture. One doctor said her issues were the result of complications due to migraines. After which,  every other doctor followed suit despite the symptoms, abnormal imaging, and abnormal lab results. All of this happened over a three year period.

In February 2018, Jordan, now 17, was diagnosed with portal vein thrombosis. Her symptoms remained unchanged for three years, yet the doctors still fixated on migraines. At this point, I started doing my own online research and requested testing for polycythemia vera (PV). We were told by a hematologist that tests including a bone marrow biopsy, were not necessary as her labs were normal. They were not.  She was reluctantly tested for the JAK2 mutation on February 21, 2018. Nobody read the results.

On March 4, 2018, we were told Jordan could possibly have an MPN and a bone marrow biopsy was needed. The biopsy was performed on March 5, 2018. Two days later, our Jordan passed away on March 7, 2018.

The medical community failed our daughter. We were told on March 4 they didn’t test her earlier because “this isn’t seen in children.” We told them this was no excuse not to test, diagnose and treat. Their expectations resulted in our daughter’s death. Instead of trying to find out why our daughter was sick, and doing further investigation into her MPN symptoms, they labeled her with a default diagnosis that did not fit.

Afterward, we were not told of her official diagnosis. No doctor called us. Patient Relations refused to speak to us and suggested we request our daughter’s records and have our primary care doctor review and advise. We found out six weeks after she passed away she suffered from primary myelofibrosis.

If Jordan were tested for JAK2 and or had a bone marrow biopsy in January 2015, when one doctor requested hematology do an exam because of suspicion of PV she would still be here. She could have had treatment. She could have had a stem cell transplant. Due to lack of awareness, ignorance, ego, expectation or a combination of these, she was left to suffer. We lost our beautiful daughter because they didn’t want to look beyond migraines. The sad part is that she was at a well-known level 3 tertiary care children’s hospital in southern CA.

We have now become advocates for awareness. We want doctors who see children not to be swayed by “expectation” as MPNs can affect anyone regardless of age, gender, or ethnicity. We want more research. The medical community needs to be educated. We advocate for funding. We advocate for Jordan. We are sharing her story on Facebook in the hopes of raising awareness, www.facebook.com/jordansstory .

MPN Advocacy & Education International’s Pediatric and Young Adult MPN initiative advocates for young patients. As part of that effort, we are in the process of creating a private, online, space for parents to communicate with each other and seek input from our Pediatric MPN advisors, Dr. Nicole Kucine, Weill Cornell and Dr. Linda Smith-Resar, Johns Hopkins Medicine. Click here to learn more about our Pediatric and Young Adult advocacy efforts 

 Click here to download MPN Advocacy & Education International’s Pediatric & Young Adult Booklet

Join Us for the 2ndAnnual Pediatric & Young Adult MPN Program on May 16 in New York City