It's Rare Disease Day

It's Rare Disease Day, which falls on February 29 (a rare day), but on February 28 in non-Leap Years. I want to mark the day with a little info about where we've been and where we need to go as ET patients.

While ET is recognized by the National Organization of Rare Diseases, ET does not fit the legal definition of "rare." A "rare" disease is one that affects one in 200,000 people or more. ET affects about one in 135,000 people.

Why does that matter?



Because public policies that offer special help to those with rare diseases may exclude us. Technically we have an "orphan" disease--one that has a hard time attracting researchers.

While MPNs were first named and classified as "disorders" in the 1950s, there was no real treatment until about the 1970s, when researchers wondered if a drug used to treat leukemia might help ET patients reduce platelet counts and thereby clot risks. That drug was hydroxyurea/Hydrea.

In 2006, when MPNs were reclassified as "neoplasms" (cancers), researchers started to pay more attention. Not to put too fine a point on it, there is money in cancer treatment.

In addition, the Orphan Drug Act of the 1980s had made it more lucrative for researchers to develop medication for diseases like ours.

Problems with ET treatment affordability, drug side effects, early disease detection (before clots form), and access to specialists are problems that need to be solved. And there is a general lack of knowledge about our disease by the medical community, which sometimes tends to wave us away as not being sick enough.

In listening to ET patients around the world on this blog and our Facebook page, I know that there is no standard treatment protocol. There is still no clear answer about whether hydroxyurea causes secondary cancers ... and at what rates. This has caused many patients to fear and reject hydroxyurea, despite its effectiveness at reducing clot risk and acquired vonWillebrand Syndrome.

Doctors are still arguing over the best drugs to use, and so far there is not much differentiation in treatment by mutation. Sometimes  patient age and general health are ignored in the treatment plan. Many doctors also ignore giving patients  basic wellness that can increase quality of life, such as diet, exercise, hydration, and stress reduction.

A few doctors refuse to believe ET patients have any symptom burden at all.

However, we are in the cusp of some good changes. The amount of information and research now available about ET has grown by leaps and bounds in the last 12 years, and it is translating slowly into better patient care. My dad, who had ET, knew nothing about his disease, and he had many uncomfortable symptoms and drug side effects that are better known today. I am better able to take care of myself because of these advances. Patient surveys are also underscoring the fact that patients with ET do have symptoms, sometimes debilitating ones.

But these advances can move faster when patients stay informed and press their doctors with lots of questions. I hope everyone will make a Rare Disease Day resolution to be a partner in his or her health plan. It will help all of us.

Be well!