Monday, February 29, 2016

February 29th is Rare Disease Day: 4 Reasons You Should Care


Even though MPN patients who have a rare disease many may have never heard of "Rare Disease Day" and know next to nothing about the impact rare disorders have on society. Rare diseases play a larger role in public health than most people realize and deserve consideration from the medical community, policy makers, and the general public.


A rare disease is defined by the National Institute of Health (NIH) as any disease that affects less than 200,000 people at a given time. Today, the last day in February is an internationally recognized day set aside to raise awareness of the impact that rare diseases have on society. Here is what you need to know:

1. Rare diseases aren't actually that rare. 
While each individual rare disease affects only a small percentage of the population, there are over 7,000 rare diseases. When combined, they collectively affect 10% of the general population or 30 million people. Of these 30 million people, roughly half are children and 4.5 million of them won't live to the age of five.

2. Of the 7,000 rare diseases only 4% have an effective treatment. 
We hear from many patients that when they are finally diagnosed with an MPN they feel a momentary felt a sense of relief. The agony of watching helplessly as their health declined and visiting expert after expert who all seemed baffled by their condition appeared to be at an end. Until the hematologist's next piece of information, the disease has no cure. While there is at least a treatment option for slowing down the disease progression for some MPN patients, there is little to nothing the medical community can do for the vast majority of people diagnosed with an MPN.


3. Rare disease research faces practical challenges that, if solved, could shift thinking for how medical research is conducted in the industry as a whole.
There are a number of barriers inherent to researching rare disorders. Patients are often scattered over a large area and even finding an adequate number people affected by an MPN to conduct a well-designed clinical trial can be challenging. Additionally, medical literature describing key characteristics of a particular MPN are scarce or non-existent, making it difficult for experts to build on previous knowledge. The current, traditional model of research and drug development that conceives of research results as intellectual property and sets up competition among researchers is a huge challenge with such a small patient population. In order to overcome this barrier, rare disease experts have to be leading advocates for revolutionary new research models that are more collaborative and open-sourced. This shift in philosophy to sharing vital research results more openly will benefit drug discovery as a whole by potentially reducing the costs and inefficiencies associated with replicating research in drug development.


4. Researching all rare genetic disorders will increase the chance of finding cures for more common diseases. 
Like MPNs, many rare diseases of a genetic nature. By contrast, many common diseases are the result of the interaction of several different genes and in part due to many factors such as life-style and environment. The ability to isolate the single cause of a rare disease simplifies the research process since there are fewer variables to consider. Diseases such as MPNs whose symptoms normally don't show up until adulthood must be studied taking into account the many factors that have influenced the disease process over the course of an individual's lifetime and may benefit from the information that could be learned from similar rare diseases.


Until the last couple of decades rare diseases were truly neglected in the medical community and by society in general, even earning them the nickname "orphan diseases". Fortunately, through a combination of legislation and advocacy, more people are beginning to understand why everyone should care about Rare Disease Day.

Monday, February 1, 2016

It’s World Cancer Day


There has been, from time to time, a question about whether myeloproliferative neoplasms are cancers. Let’s be clear, they are. But don’t take our word for it.


Cancer Support Community defines Myeloproliferative Neoplasms (MPNs) as types of blood cancers that overproduce blood cells in the bone marrow, due to genetic mutations that originate in the stem cells. This genetic mutation leads to the overproduction of white blood cells, red blood cells, and platelets in the bone marrow.

The World Health Organization (WHO) reclassified MPDs to “Myeloproliferative Neoplasms” to reflect the consensus that these diseases are blood cancers (neoplasms) in 2008. MPNs were previously identified as “Myeloproliferative Disorder” or “Myeloproliferative Disease” (MPDs).  

Though myeloproliferative neoplasms are serious, and may pose certain health risks, people with these conditions often live for many years after diagnosis. The prognosis largely depends on the type of MPN. –


The Leukaemia Foundation in Australia offers this definition. Myeloproliferative neoplasms (MPN) are a group of diseases that affect blood-cell formation. In all forms of MPN, a bone marrow problem leads to increased levels of blood cells circulating in the bloodstream.

  • “Myelo” refers to bone marrow, which is the body’s blood-cell factory.
  • “Proliferative” refers to the rapid growth and production of cells.
  • “Myeloproliferative” means increased growth and production of bone marrow and blood cells.
  • “Neoplasm” means an abnormal growth of cells. A neoplasm can be either benign (noncancerous) or malignant (cancerous). In MPN, the neoplasm starts out benign; over time it may turn into malignant disease (cancerous).
    From our website
    The myeloproliferative neoplasms are progressive blood cancers that can strike anyone at any age, and for which there is no known cure. A gene marker, JAK2, was discovered in 2005. It is present in most PV patients and 50% of ET and PMF patients. A second gene marker, Calreticulin or CALR, was discovered in 2013. It is present in 23.5% of people with MF and ET.

Tuesday, January 12, 2016

MPN Community joined by legislators in speaking up on Medicare's plan for Myelofibrosis

For the past several months we've kept you informed and taking action on Medicare's pending decision of whether to provide coverage for people with myelofibrosis seeking a stem cell transplant. Currently there is no official ruling from Medicare on whether this treatment is covered, leaving many patients to risk paying out of pocket (running potentially several hundred thousand dollars) or scrambling to find alternative ways to cover it. 

While we are awaiting decisions, we are pleased that The Honorable Scott Garrett, Congressman from the 5th District of New Jersey, has written a letter to the Centers for Medicare & Medicaid Services in support of providing full coverage to patients. Please join us in thanking him for his support for the myeloproliferative neoplasms community! 

Expanding upon their success with myelodysplastic syndromes, Be The Match and the National Marrow Donor Program have been leading the charge to increase coverage for people with myelofibrosis. We expect word about Medicare's decision in the coming weeks and will let you know ASAP. 

Read our previous posts about this issue:

Help Fix Medicare Coverage for Stem Cell Transplant - May 2015
Update on Medicare coverage decision for Stem Cell Transplant in Myelofibrosis - Oct. 2015