Thursday, February 28, 2013

Rare Suffering

I know, I know, there's a "day" or a "week" for everything it seems.

Today, for those of you who don't know (and most don't), is Rare Disease Day.

Now, as regular readers of this blog know, I don't normally go in for this sort of thing here. But, as with so many things, personal experience has a way of changing one's perspective.

And no, I don't have a rare disease (at least that I know of, although I think my wife not be so sure).

Rather, it is two of my relatives, my sister-in-law and my cousin-in-law, who do.

My sister-in-law has a disease called Still's Disease which acts much like a very aggressive rheumatoid arthritis.

This one does have its own organization, the International Still's Disease Foundation.

As a result of her disease, my sister-in-law walks slowly, is unable to open jars and tires easily.

To date, she has had sever joint replacements, including hips, knees and elbows.

Needless to say, this requires much time off from work and when she lost her job during the recession, we all worried about her ability to access health care. (Thankfully, she found a new jobs.)

Although this disease wears on her, her level is acceptance and bravery rarely fails to impress me.

Equally impressive is the determination and courage of my cousin-in-law who has myelofibrosis, also known as myeloid metaplasia, chronic idiopathic myelofibrosis,osteomyelofibrosis and primary myelofibrosis, a rare form of leukemia that destroys the bone marrow.

She has already been through one transplant, which, sadly, did not take and is now embarking on another try.

She shares tales of her ups, downs, treatments and triumphs on her Caring Bridge blog, which is where I found out that she is not only brave, dogged and determined, but a damn good writer as well; so much so that her blog rivals mine for hits and I write all kinds of crazy stuff .... not that I'm jealous or anything....

Anyhoo, so when I saw the link that Mercury reader Richard Favinger put on a Facebook feed, I was intrigued.

As we all know, more common diseases, like cancer, diabetes and heart disease, have huge advocacy and support organizations aimed at not only finding cures, but helping those afflicted with those diseases cope with the effects.

But what about those that are literally one-in-a-million?

Who do you turn to?

Where is the support group? The common experience? The knowing nods of family and friends, replaced by the puzzled looks of people who often cannot pronounce what they've just heard, much less have a frame of reference.

Here a few of the many obstacles faced by those with a rare disease:
  • Difficulty in obtaining an accurate diagnosis
  • Limited treatment options
  • Little or no research being done on the disease
  • Difficulty finding physicians or treatment centers with experience in treating a particular rare disease
  • Treatments that are generally more expensive than those for common diseases
  • Reimbursement issues related to private insurance, Medicare, and Medicaid
  • Difficulty accessing medical, social, or financial services or assistance because those making the decisions are not familiar with the disease
  • Feelings of isolation and of having been abandoned or “orphaned” by our healthcare system.
So perhaps that's why there is an official "Rare Disease Day" organization that seeks to help all those who feel alone find common cause.

Their motto is: "Alone we are rare. Together we are strong."

Rare Disease Day is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge. The day is celebrated on the last day of February every year.

 In 2013, it will be observed on February 28th.
According to the Rare Disease Day web site, in the U.S., any disease affecting fewer than 200,000 people is considered rare.

There are nearly 7,000 rare diseases affecting nearly 30 million Americans. In other words, almost one in ten Americans are suffering from rare diseases.

Besides dealing with their specific medical problems, people with rare diseases struggle to get a proper diagnosis, find information, and get treatment. The rarity of their conditions makes medical research more difficult.

This event began in Europe in 2008 and in the U.S. in 2009.

Events are held across the country, although the events in Pennsylvania this year are being held in and around Pittsburgh.

The nearest one to our area is in Trenton, N.J. 

See below:

There is also a year-long project called Handprints Across America through while people with rare diseases hold up fliers like the one above, and have their photo taken and submit it to the national site.

The idea is to put a face to the disease, and if you look there are quite a few.

What if one of them were you?


  1. Thanks for writing this, Evan, and thanks for the props!

    I can tell you that it is thanks to the internetz that I still have my sanity. As you correctly mention, it is nearly impossible to find a local support group when you have a rare disease that, most likely, nobody else in your area has. My circumstances have become even more rare over time, as I chose to go the bone marrow transplant route (rare) and then endured transplant failure (which makes me rarer still.) I often refer to myself as "a study group of one."

    Thankfully, one can find support groups for almost anything if one also suffers from Obsessive Googling Syndrome, like me (although this likely does NOT qualify as "rare.") I have forged very close friendships with several people who have myelofibrosis and several more who have endured BMT. Among that group, I am particularly close to two who share both of those circumstances with me. They live nowhere near here, so I will forever be grateful to my wifi for bringing us together. Fortunately, we are scheduled to meet, live and in person, at a BMT Survivorship Conference in April. My second transplant is currently being scheduled for early May, so it looks like I'll get the conference in just under the wire.

    Hugs to the PA cousins contingent. Hope to see you all in the not too distant future for a happy reason!

    Kathy Dubin Flynn

  2. Thanks for the writeup Evan. Kit and I have tried to spread the word about Erdheim-Chester Disease (ECD). ECD has been reported in less then 400 cases world wide. We tried to promote Rare Disease Day at PMMC, but did't have much luck with administration. Perhaps next year we can try again with a little help from the Merc' and some Rare Disease friends. - We also send PR's about Rare Disease Day to many local papers with our much luck.

    Simply by you posting this shows, some people do pay attention, and now one more person knows - and the others that read this know about Rare Disease Day!