Meeting and advocating with my fellow "orphans"

Some of the many speakers at Michigan's Rare Disease Day
event in the Michigan State Capitol February 28.

Tuesday was Rare Disease Day around the world. Michigan's Governor Rick Snyder and our state legislature declared February 28 Rare Disease Day in my state, as a special event was held in the capitol building. I was there to gather some highlights, and I urge you to consider writing your elected representatives with a post-Rare Disease Day message.

Rare Disease Day is promoted by the National Organization for Rare Disorders (NORD). You can learn more about them in the link at right.

Our Michigan event was pretty small--about 80 patients with a variety of rare diseases, their families, friends, and caregivers. As I listened to the speakers, some patterns began to emerge that most of us with ET can relate to:

Many people with rare diseases experience vague or puzzling symptoms that doctors initially wave away because they can't figure out what's wrong. The majority of ET patients are middle-aged women, and when you tell a doctor you have headaches, fatigue, night sweats, brain fog, or bone pain (or a combination of those), the simplest explanation is age or The Change. In too many cases, doctors will tell you that your problem is psychosomatic. If you are a middle-aged woman, like most ET patients, you are likely to be tested for thyroid. Sometimes again and again.

The sooner a rare disease is diagnosed, the better your treatment. Several patients talked about how their diseases were misdiagnosed or mistreated, and they became needlessly worse, sometimes disabled. Many ET patients don't know they have the disease until they develop a blood clot or bleeding problem that earlier treatment with aspirin or aspirin plus chemo might have prevented.

Patients with rare diseases are almost always "underinsured." "The bottom line is always money," one patient said. Speakers talked about the difficulty of getting insurance companies to pay for tests that would be helpful in confirming a diagnosis or a treatment; the difficulty of finding specialists inside their insurance networks; the high cost of traveling to a specialist outside their state; the prohibitively expensive "latest treatment" for their diseases; and the near-impossibility of getting insurance companies to pay for off-label treatments. As the U.S. Congress looks at repealing and replacing the Affordable Care Act, many Americans with ET and other rare diseases are concerned about the availability of adequate insurance they can afford.

More research is needed on rare diseases that could shed light on other health problems. Long-term studies on rare diseases could not only help those with the disease, but often with related problems. In our case, learning more about MPNs may help researchers better understand other bone marrow cancers and disorders, and open new lines of treatment for them.

Patients with rare diseases experience social isolation. Many patients noted that their diseases are exhausting or cause mobility problems, and this has caused them to lose touch with family and friends. Those that had to quit working because of their diseases seemed especially prone to isolation. A few said that people were afraid they would catch the disease (even though most rare diseases are not contagious). Some said they heard the line so many of us with ET hear: "Geez, you don't look sick." Often, if patients with rare diseases complain about social isolation, they are given unneeded anti-depressants.

So what can you do? Michigan State Senator Margaret O'Brien and Rare Disease Day speaker whose daughter has complex regional pain syndrome, noted that rare diseases are not on the radar of most elected officials. She urged those with rare diseases to make their circumstances known to state representatives. And I'm going to encourage you to loop in your national legislators as well. Those of you living outside the U.S. might want to consider doing the same.

A good first step is to ask your representatives to form a council on rare diseases. Such councils already exist in Connecticut, Illinois, and North Carolina. Members help to lobby for citizens with rare diseases and to make sure their voices are heard when states are making policy decisions.

When you write elected representatives, be brief, clear, polite, and emphasize what you want them to do:

• Support high standards for air and water quality. Some rare cancers have been linked to environmental problems.

• Support a Chemo Parity Act if your state doesn't have one. These laws prevent companies charging more for oral chemotherapy to maintain those of us with chronic cancers than for infused chemos for patients with acute cancers.

• Support a Rare Disease Advisory Council that would help legislators make better laws and policies.

• Support access to affordable health insurance for those with pre-existing conditions.

Oh, and here's me and my many platelets next
to the resolution proclaiming February 28
Rare Disease Day in Michigan. Be well!