Rare Disease Day: February 29

A rare date for rare diseases! February 29 is Rare Disease Day worldwide. Not sure it's something to celebrate, but here's your chance to get more involved in getting diseases like ET more publicity.

Rare Disease Day has its own Web site organized by EURORDIS, a federation of rare disease organizations throughout Europe. The site includes links to observances of Rare Disease Day in various countries around the world. (Here's the U.S. events page.)

The MPN Research Foundation is also taking stories about patients with MPNs on its Web site in observance of Rare Disease Day.

If you live in Michigan, there is a special event at the capitol February 25, 11 a.m. UPDATE: THIS HAS BEEN POSTPONED TO DUE WEATHER CONDITIONS. BAD ENOUGH TO HAVE ET WITHOUT GETTING ON THE ROAD FEBRUARY 24/25. The focus will be on persuading legislators to expand the the network of support for those with rare diseases and to create a Michigan Rare Disease Advisory Council. If you cannot attend the live event, mark your calendar for February 29 and send your legislators an e-mail or letter. You may want to include some of the following facts:

• Most rare disease require care from medical specialists. When specialists refuse to take Medicaid patients because of low reimbursement rates, that prevents them from getting quick diagnosis and treatment. 

• While the Affordable Care Act (Obamacare) has made insurance more available, high-deductible policies put testing, frequent monitoring, and treatment beyond the ability of some patients to pay. 

• Some rare diseases mean lost work and burdens on family members who must pick up the slack and provide at-home care, especially if states have very stringent policies on who qualifies for disability.

• Most rare diseases have no cure, which means that patients live out their lives with their illnesses. While the federal Orphan Drug Act attempts to offer tax breaks and other benefits to companies that develop better pharmaceutical therapies, these are often very expensive and beyond the ability of the uninsured--and many insured--to pay. Don't forget to mention that $7,000 per month fee for JAK2 inhibitors like Jakafi. 

• More work needs to be done on the causes for the mutations that lead to MPNs. A variety of environmental causes have been suggested. Research on environmental links to MPNs might eventually prevent these disease altogether.

Be well!

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