Tag Archives: blood cancer

Ambitious £4 million project to develop clinical platform for blood cancer prevention

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4th Feb 2024 – Edward Pinches

Professor George Vassiliou from the Wellcome-MRC Cambridge Stem Cell Institute (CSCI), University of Cambridge will spearhead the project, which focuses on myeloid blood cancers, a group of blood cancers that accounts for more than 11,000 deaths each year in the UK.

The blood cancers, which affect both the bone marrow and blood, include acute myeloid leukaemia (AML), myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN) and rarer cancers like chronic myelomonocytic leukaemia (CMML).

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A Rare Coexistence of Smoldering Multiple Myeloma and JAK2-Positive Myeloproliferative Neoplasm: A Case of Dual Synchronous Hematological Malignancy

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January 20, 2024

Abstract

This article explores the rare case of an 82-year-old man diagnosed concurrently with essential thrombocythemia and smoldering multiple myeloma (SMM). The limited existing literature on individuals harboring both myeloproliferative neoplasm (MPN) and monoclonal gammopathy (MG) is of significant interest due to the distinct origins of these malignancies. The etiology of MG in MPN patients remains elusive, leading to speculation about a potential relationship or interplay between the two conditions. This unique case prompts a deeper exploration of the mechanisms underlying the coexistence of JAK2-positive MPN and SMM. It underscores the importance of tailored therapeutic strategies that carefully consider the inherent risks and potential adverse outcomes associated with these specific malignancies, thereby warranting further clinical research.

Introduction

While existing literature acknowledges the coexistence of dual malignancies within the same patient [1], there is relatively limited documentation regarding the simultaneous occurrence of dual hematological malignancies (DHMs) [2,3], encompassing both myeloid and lymphoid hemopathies. A noteworthy aspect is the distinctive origin of these two malignancies from separate lineages within the hematopoietic ancestral tree [4]. DHMs can be classified as synchronous, manifesting within six months of the initial malignancy diagnosis, or asynchronous if they arise later [5].

Since its inclusion in the classification of monoclonal gammopathy (MG), smoldering multiple myeloma (SMM) has emerged as a significant aspect of MG [6], attracting attention in various clinical investigations.

Currently, no established strategies exist for treating or monitoring patients with myeloproliferative neoplasms (MPNs) and concurrent SMM. Additionally, the precise source of SMM in patients with MPN is not well understood, and there is uncertainty regarding whether an aberrant plasma cell condition arises from the identical hematopoietic clone as the MPN.

Numerous case reports have highlighted the occurrence of monoclonal gammopathy of undetermined significance (MGUS) or multiple myeloma (MM) in patients with MPN, with details from only a limited number of patient cohorts published [7]. Remarkably, to date, there have been no reported instances of the concurrent diagnosis of essential thrombocythemia (ET) and SMM. In this report, we present a case of synchronous concurrent SMM and ET and provide a comprehensive review of the existing literature.

Case Presentation

An 82-year-old man with a history of hypertension and diabetes was referred to our department for the management of thrombocytosis. Physical examination revealed no remarkable findings, and there was no evidence of lymphadenopathy or hepatosplenomegaly. Laboratory results indicated a platelet count of 946 g/L, hemoglobin of 12.5 g/dL, and a white blood cell count of 6.4 g/L. The patient had no systemic symptoms.

Thrombocytosis workup was initiated, initially excluding infections and iron deficiency. The platelet count was notably elevated, suggesting uncommonly high levels for secondary causes of thrombocytosis.

The patient’s chemistry panel results are shown in Table 1. Monoclonal protein was measured at 36.6 g/L. Serum immunofixation electrophoresis revealed IgG lambda gammopathy. Free light chain lambda was elevated, and kappa was normal.

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Dr Vincelette on MYC Expression in Myelofibrosis

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Nicole D. Vincelette, PhD

Nicole D. Vincelette, PhD, postdoctoral fellow, Moffitt Cancer Center, discusses findings from a study investigating the role of MYC expression and S100A9-mediated inflammation in a subgroup of triple-negative myeloproliferative neoplasms (MPNs).

To determine how MYC expression drives MPNs, such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis, Vincelette and colleagues conducted a study in which they generated a mouse model that overexpresses MYC in the stem cell compartment. This analysis demonstrated that MYC overexpression was associated with the mice developing a myelofibrosis-like phenotype, which included anemia, atypical megakaryocytes, splenomegaly, bone marrow fibrosis, liver fibrosis, spleen fibrosis. The mice also experienced adverse clinical outcomes, such as reduced overall survival (OS), compared with wild-type mice, Vincelette says.

Since the MYC-overexpressed mice developed myelofibrosis, the next step of this research was to investigate how MYC drives myelofibrosis, Vincelette explains. Investigators performed single-cell RNA sequencing to compare the bone marrow cells from MYC-overexpressed and wild-type mice. MYC overexpression correlated with upregulation of the S100A9 protein, which contributes to inflammation and innate immunity, according to Vincelette. Therefore, MYC drives the development of myelofibrosis through S100A9-mediated chronic inflammation. To validate the role of S100A9 downstream of MYC in myelofibrosis, investigators created a mouse model with S100A9 knockout in the presence of MYC overexpression, Vincelette notes. The S100A9 knockout protected against the development of myelofibrosis phenotype in that mouse model, Vincelette emphasizes.

By generating a mouse model that overexpresses S100A9, investigators also determined that S100A9 overexpression alone contributes to the development of myelofibrosis phenotypes, Vincelette says. When investigators treated the MYC-overexpressing mice with the S100A9 inhibitor tasquinimod (ABR-215050), the agent only partially abrogated the myelofibrosis phenotype, meaning the mice had reduced atypical megakaryocytes and splenomegaly. Additionally, the mice developed anemia and no OS difference occurred between tasquinimod and vehicle treatment, potentially because of off-target drug effects, Vincelette concludes.

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The role of inherited genetic variants in rare blood cancer

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January 17, 2024

Researchers from the University of Cambridge, Wellcome Sanger Institute, and collaborators have shown how inherited genetic variants can influence the risk of developing a rare blood cancer.

Large-scale genetic analysis has helped researchers uncover the relationship between cancer-driving genetic mutations and inherited genetic variants in a rare type of blood cancer.

The team combined datasets to understand the impact of cancer-driving spontaneous mutations and inherited genetic variation on the risk of developing myeloproliferative neoplasms (MPN).

Published in Nature Genetics, the study describes how inherited genetic variants can influence whether a spontaneous mutation in a particular gene increases the risk of developing this rare blood cancer.

The analysis will have an impact on current clinical predictions of disease development in individuals.

More research is needed to understand the mechanisms behind how the inherited genetic variants influence the probability of developing rare blood cancer.

In the future, the work could aid drug development interventions that reduce the risk of disease.

Myeloproliferative neoplasms

MPNs are a group of rare and chronic blood cancers, with around 4,000 cases in the UK each year. These occur when the bone marrow overproduces blood cells, resulting in blood clots and bleeding.

MPNs can also progress into other forms of blood cancer.

Genetic risk score

There is a large amount of natural variation between individuals’ blood cells which can affect the amount of blood cells a person has and their traits. This is because different genes can influence blood cell features in an individual.

Researchers take known information about these genes during routine blood tests and analyse the variation to give a genetic risk score. This is how likely that individual is to develop a disease over their lifetime.

MPNs have been linked to random somatic mutations in a gene called JAK2; however, mutated JAK2 is commonly found in the global population. The vast majority of these individuals do not have or go on to develop MPN.

Previous studies identified over a dozen associated inherited genetic variants that increase the risk of MPN. However, these studies do not explain why most individuals do not go on to develop MPN.

Inherited genetic variants can influence risk

The new study combined information on the known somatic driver mutations in MPN inherited genetic variants, and genetic risk scores from individuals with MPN.

They found that the inherited genetic variants that cause natural blood cell variation in the population also impact whether a JAK2 somatic mutation will cause MPN. The team also discovered that individuals with an inherited risk of having a higher blood cell count could display MPN features in the absence of cancer-driving mutations, mimicking disease.

Dr Jing Guo, from the University of Cambridge and the Wellcome Sanger Institute and first author of the study, said: “Our large-scale statistical study has helped fill the knowledge gaps in how variants in DNA, both inherited and somatic, interact to influence complex disease risk.

“By combining these three different types of datasets we were able to get a more complete picture of how these variants combine to cause blood disorders.”

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A Patient Story: The decision to get a Stem Cell Transplant

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Parachuting from a Crippled Plane

 

By Dave D.

My daughter came to Ohio to provide support to me and my wife during my recent stem cell transplant (SCT). In explaining the process to her I used the analogy of parachuting from a crippled airplane and she found it very helpful. I hope that this analogy might also help others understand my experience. Like with parachuting, there are risks there are steps to take. Each step is a small victory, but the ultimate victory is landing safely.

When I was diagnosed with Primary Myelofibrosis in 2013, it became clear that my high-flying airplane (my body) had a problem. It was still possible that it could fly on for years with relatively few problems, but we needed to keep an eye on it. Medications like Jakafi and Inrebic made the flight a bit more pleasant, but blood counts and bone marrow biopsies indicated that we were losing altitude.

This December I realized through consultation with Dr. Aaron Gerds from the Cleveland Clinic that the plane’s problems were becoming unmanageable. I was now High Risk and I was headed for a fatal crash sooner rather than later. It was difficult to say just how long it would take – but our calculator (MIPPS70) predicted about 5 years – give or take.

At that point I needed to decide whether I would take the risks involved in jumping out of the plane or choose to die in the crash. In consultation with my dear wife and my medical team and with the prayers of my friends and family we considered my options. I decided to make the jump.

View Our Recent Stem Cell Transplant Webinar 

Some people cannot find a good donor match – or they have physical problems that would make SCT pointless. But in my case, everything appeared promising. The team at the Cleveland Clinic put me through tests that showed I was relatively fit. They found multiple 10/10 unrelated donor matches for me. We received necessary insurance approvals. We received logistical support from our family, church family and friends for help throughout the process.

Finally everything was in place. I was giving up on the old airplane that was certainly failing and entrusting myself to the parachute for a safe descent and landing.

  1. I got my final approval to go ahead (negative COVID test. 2/16)
  2. I got the notification that the parachute was in hand (the donor cells had been collected and received by Cleveland Clinic. 2/17)
  3. I prepared myself with the equipment make the jump (my Hickman port was installed through my chest up to my heart. 2/18)
  4. I jumped out the door of the plane (I received chemotherapy to kill my defective bone marrow. from 2/19-2/22)
  5. I put on my parachute and pulled the ripcord (The donor cells were infused into my body. Day Zero – 2/24.

The free fall is not very much fun. The chemo continued to kill off my bone marrow and other fast-growing cells and I didn’t feel well. I had some nausea. I felt very tired. My mouth got sore to the point that I could barely swallow and needed to get most meds through my port. Eventually I needed transfusions of whole blood almost every day and platelets every other day.

And there is always the nagging question of whether or not that parachute would actually open! I was very happy when my fall turned around on day +14. That day my WBC finally went up from 0.050 to 0.090. And it continued to gradually climb so that by day +19 I was able to leave the hospital. At that point I had not needed a transfusion in three days, and they canceled my first outpatient transfusion day.

I am now at day +69 and I have not needed any transfusions for 7 weeks! I feel well. I’m able to exercise. I’m down to one Cleveland Clinic visit each week. Every week they tweak my meds – add one, change the dose of another. We keep watch for any sign of infection or of Graft versus Host Disease. (I’m happy to report there’s nothing much to report so far.)

I am doing well and I am very grateful. I am grateful to God who is the source of my life and my salvation. I am grateful to my beloved friends and family for their prayers and their constant encouragement. I am grateful to the all the people at Cleveland Clinic for their expertise and good care for me. And I am very grateful to the donor who provided me with my parachute – I don’t know him but I do know that he is 25 years old, lives somewhere in the USA and goes out of his way to help strangers!

 

Treatments for MPNs During Pregnancy With Birth Rates and Maternal Outcomes

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Question

Are use of aspirin, heparin, interferon, or combinations associated with live birth rate and adverse maternal outcomes in pregnant women with myeloproliferative neoplasms?

Findings

In this systematic review and meta-analysis of 22 studies, reporting on 1210 pregnancies, the live birth rate was 71.3%; most studies reported on pregnancy with essential thrombocythemia. The use of aspirin and interferon—but not heparin—was associated with higher odds of live birth.

Meaning

Moderate-quality evidence suggests that treatment with aspirin or interferon is associated with higher odds of live birth in pregnant patients with myeloproliferative neoplasms.

Myeloproliferative neoplasms (MPNs) are increasingly being identified in women of childbearing potential. Pregnancy in women with MPNs is associated with maternal thrombosis, hemorrhage, and placental dysfunction leading to fetal growth restriction or loss.

Objective

To evaluate the association between the use of aspirin, heparin, interferon, or combinations and live birth rate and adverse maternal outcomes in pregnant women with MPNs.

Data Sources

Systematic searches of MEDLINE, Embase, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, and the MEDLINE Epub Ahead of Print and In-Process and Other Non-Indexed Citations from inception to July 19, 2018, with no language restrictions, was conducted. Key search terms included myeloproliferative disorders, polycythemia vera, essential thrombocythemia, and primary myelofibrosis.

Study Selection  

A study was eligible if it included pregnant patients with MPNs; interventions included aspirin, heparin, and/or interferon; there was a comparison group in which patients did not receive the intervention; the study reported on at least 1 of the study outcomes; and it was a randomized, case-control, or cohort study or series of at least 10 pregnancies. Data were extracted in duplicate; 0.5% of identified studies met selection criteria.

Data Extraction and Synthesis  

The review was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines and reported in accordance with Meta-analysis of Observational Studies in Epidemiology (MOOSE) guidelines. Data were pooled using the Mantel-Haenszel approach.

Main Outcomes and Measures

Outcomes were the number of live births and maternal complications, specifically, arterial or venous thrombosis, hemorrhage, and preeclampsia.

Results

Twenty-two studies reporting on 1210 pregnancies were included. The live birth rate was 71.3% (95% CI, 65.1%-77.6%). Use of aspirin (11 studies, 227 patients; unadjusted odds ratio, 8.6; 95% CI, 4.0-18.1) and interferon (6 studies, 90 patients; unadjusted odds ratio, 9.7; 95% CI, 2.3-41.0) were associated with higher odds of live birth. Addition of heparin to aspirin was not associated with higher odds of live birth (6 studies, 96 patients; unadjusted odds ratio, 2.1; 95% CI, 0.5-9.0). The most common adverse maternal event was preeclampsia, with an incidence of 3.1% (95% CI, 1.7%-4.5%).

Conclusions and Relevance

Most studies reported on pregnancy with essential thrombocythemia. Few studies reported on pregnancy with polycythemia vera and none with myelofibrosis met the inclusion criteria. Most studies were retrospective and early pregnancy losses may have been underreported. Moderate-quality evidence suggests that aspirin or interferon is associated with higher odds of live birth in pregnant women with MPN.

Learn more

View Dr. Hobbs Presentation on Fertility, Child Bearing and Beyond

at the 5th Annual Women & MPN Conference

Learn more about Women & MPNs

Special Interview: Living with an MPN in Childhood

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Diagnosed at age seven with Essential Thrombocythemia, Portia shared her story at the 2nd Annual Pediatric & Young Adult MPN Patient Program.

Portia, a young adult MPN patient, shared her story at the 2nd annual Pediatric & Young Adult Program

Do you remember experiencing any symptoms?

I had occasional nosebleeds that would last about twenty minutes or so. But over time, the time decreased to about ten minutes. I also experience fatigue, especially when I’m sick, all I do is sleep to try and regain any energy. Also, I’m very active and I play competitive squash, so I do experience fatigue more than an average person.

How do you cope with essential thrombocythemia (ET) symptoms and/or side effects from Hydroxyurea?

I’m very lucky that I don’t really experience too many symptoms, but I usually push through any pain that I have since I’m such a wimp about medication. I have not had any side effects from Hydroxyurea. For fatigue, I don’t take any other medication, I pretty much just work hard and try to be smart about how I utilize my energy. When playing squash, I work extra hard to make up for my fatigue, but if I really can’t breathe due to lack of oxygen, I will talk to my coach and ask for a small break to recuperate. Most coaches are very reasonable and will allow a break.

Has ET curtailed your involvement in school activities?  Sports?

When I was younger, elementary and middle school age, I would occasionally have to miss school for lab appointments, so I would have to make up work. One symptom of ET is fatigue, so I do have to deal with that in sports. But I also have Hemoglobin H, which I believe has a bigger impact on my fatigue in sports than ET. But overall, I still go about my life and continue to do the things I love.

How do you explain what you have to your friends?

As I’ve gotten older, I’ve done a lot more of my own research to further understand my condition, but to my friends, I explain that I have way too many platelets, which help clot your blood when you get a cut, and because of that, I bleed for longer.

What advice would you give other younger individuals with an MPN when peers say they don’t look sick or they’re faking?

I would tell them to do their best to ignore their hateful comments and try to explain their condition by telling them it’s something internal rather than external, that’s why they don’t appear sick. And most important, find friends who won’t judge you, and people who do, clearly aren’t your real friends, for real friends should accept you no matter what.

You are very energetic and positive, when you reach out to others your age who aren’t feeling well, what do you say to encourage them?

First, I would listen to their concerns and possible issues, and then I would tell them to keep their head held high and know that it does get better. This is just a phase and eventually, the negative parts will fade away. Also, it’s very important to know who your close friends are and be able to talk to them since many kids would rather talk to their friends rather than a parent or even a doctor since it can be intimidating. I would also say, take one day at a time and find joy in the little things, whether it’s going for ice cream or just taking a nice walk.

If you could wave a wand and change one thing in the world of MPNs, what would you change?

Personally, I would change the medicine. I really hate swallowing pills, so I would much prefer something fun to eat or drink as my medicine. I’m also very strange and would much rather have the medicine get injected into me, which I know is an option, but the majority of people aren’t a big fan of needles.

 

 

 

A Caregiver’s Story: The Journey of a Spouse Through the Transplant Process

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In March, MPN Advocacy & Education International highlighted the story of a recent stem cell patient, Andrea (click here to view story). This month, Andrea’s wife, Denise, shares her story as a caregiver in an interview with us. 

Andrea and Denise

How did you feel about your spouse’s decision to have a transplant? Were you apprehensive? 

I have been a part of Andrea’s medical journey since her diagnosis from ET to myleofibrosis.  I recall it took me about a week to learn how to pronounce the name correctly, and it has been an education ever since.  Being present during doctor appointments and multiple clinical trials provided first-hand information in addition to our ongoing discussions.  Observing and experiencing her five years of transfusion independence was a gift.  We took advantage of the opportunity to cycle and travel together and separately. Knowing the clinical trial would either end or the drug would quit working was only a matter of time.  And knowing how she physically felt prior to and after this time period played a role in my ‘wrapping my head’ around a possible future transplant.  All the while, we adjusted and modified activities as needed in order to continue allowing her to live life to the fullest.

When medications were no longer yielding the same results, and Andrea’s blood transfusions became more frequent, the doctors felt the alternatives were to continue clinical trials and hope for the best or discuss a stem cell or bone marrow transplant. I felt she was strong enough physically to beat the odds. It was now or never. I never doubted our decision, and have had no regrets.

How did you prepare yourself as a caregiver? 

In order to prepare, I scoured MD Anderson’s educational resources to understand what a ‘typical’ transplant journey would entail.  I developed multiple spreadsheets to track medications, nutrition, recovery, therapy, etc. I left the online myleofibrosis forum readings to Andrea as she would report her findings from reading first-hand accounts.  She also talked to many individuals who had had transplants, pummeling them with questions.

Another important piece of this journey was my mindset.  I focused on the end goal – her successful transplant and healthy recovery.  I looked at the journey in three parts:

  1. Pre-transplant
  2. Transplant/hospital stay
  3. Post-transplant

My goal was to have as much of her daily care and needs become second nature to me prior to her hospital release. When she was released, the additional environmental interaction was familiar without the distraction of ‘everything new all at one time’.

What tools did you find useful as the caregiver and advocate?

I created a 3-ring notebook with tabs to manage spreadsheets, medical records/test,  and doctor questions, so I could access information easily and quickly. I created a spreadsheet to track her medication schedule.  The purpose was to help me identify what was needed, including dosage when refilling medications both inside and outside the hospital. Click here to view medication tracker template. (For an Excel spreadsheet version of the attached please email kmichael@mpnadvocacy.com).

I also knew there was a good possibility that after her hospital release and within the first 100 days, she would have a trip to the emergency room and be re-admitted to the hospital.  Therefore, medications and ‘the notebook’ were kept in one location and easily picked up and transported with us.  The notebook was with us each time we visited the care team.

I created additional spreadsheets to help track:

  • Food and water daily intake and output. This is useful for doctor & nutrition appointments.
  • Daily stats: blood pressure, temperature, pain levels, exercise, spirometer therapy.  This is useful for tracking blood pressure and temperature anomalies.  Because if her temperature rose to a specific number, she had to go to the emergency room immediately.
  • Signs of graft vs host disease (GVHD).
  • I choose to stay in the hospital 24/7 to understand how the nursing staff/care team handled her care. This experience helped me understand her routine.
  • I figured if I learned her hospital routine, it would be familiar when she was released.
  • I used my smartphone and set alarms with labels so I knew what drugs were due when. (Used upon hospital release.)
  • I utilized Caring Bridge (www.caringbridge.org) to communicate Andrea’s transplant journey to her friends and family. My intent with each post was to create an engaging story yet convey “a day in her life” so everyone could get a sense of being there.

What was the most challenging part of your role and why?

Coming home and changing environments automatically kicked us back to normal behaviors and patterns. I felt we had to be more careful and diligent in preventing infection.  Even though we were home, I had to be more watchful because familiarity brings about a relaxed state.  Her immune system was developing and the risk of infection was too great.  Andrea quickly tired of me saying “No, you can’t do that or touch that.”

Once home, Andrea’s friends visited.  This was a considerable risk to her because the natural tendency is to hug and touch. To reduce her risk, we asked people to use hand sanitizer when they were around her.  We developed a routine where I would greet her friends first with a hug and explain she couldn’t hug yet. Andrea stood back a few feet to reduce her availability.

What I learned :

Every recovery and journey is different.

While it’s tempting, don’t measure your progress against someone else.  It’s your journey.  That goes for both the patient and caregiver!

The “notebook” was a great tool.  It kept us on schedule for all medications and were able to provide information to the doctors as needed.

The hospital care team staff is a critical part of your recovery.  Don’t opt for staying close to home if you feel a facility’s care team is better in another location.

Deciding where to have the transplant included researching the number of myleofibrosis transplants, versus other blood disease transplants, and the success that facility had.

Participate in the journey. I chose to shave my head at the same time Andrea did.  It sure made showering quick and easy!

Take in the outdoors and/or change the scenery.

Exercise or go for walks.  Listen to music.  Visit a friend. Go to the grocery store.  Do something to clear your head and regain perspective.

Have a confidante. It’s normal to question, or become frustrated, and to second guess.  But remember – it’s temporary.

You are the coach, cheerleader, and guardian all at once.  Embrace the many hats you will wear!

Click here to read Andrea’s Transplant Story 

MPN Patient Daily Stats 06-10-18

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

 

 

Watch Behind the Mystery: Living with Polycythemia Vera

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The Lifetime Channel’s The Balancing Act featured a story this week on polycythemia vera (PV), with experts Dr. Richard T. Silver, a professor of medicine at NewYork–Presbyterian/Weill Cornell Medical Center, and Dr. Srdan Verstovsek of the MD Anderson Cancer Center, who discuss the latest inpatient care and clinical trials for PV, as well as the future for those living with PV as a chronic illness. Learn More

Learn more about MPN Clinical Trials