Hope … and Chaos: Rare Disease Day

Posted Wednesday February 29, 2012 by Melissa

Today is a unique day. It is known to most as being unique for being Leap Day.

But for our family and those of many we know, it is unique because it is International Rare Disease Day.

It is a day to raise awareness, educate, and celebrate the rare diseases that affect our families.

HopeIn the U.S., a rare disease is one that affects fewer than 200,000 people. This definition comes from the Orphan Drug Act of 1983 and is slightly different from the definition used in Europe. There are nearly 7,000 rare diseases affecting nearly 30 million Americans. In other words, as many as one in ten Americans are suffering from a rare disease.

This year we participated in a campaign to raise awareness sponsored by the Global Genes Project which collected “Hope photos” of our rare disease kiddos to present to representatives on the Hill over the course of Rare Disease Day events yesterday and today. The premise is a campaign called “Jeans for Genes” where we wear jeans to bring awareness to genetic conditions like Hunter Syndrome. We will be wearing our jeans today.

So HOPE. For sure.

But with rare disease… there’s chaos. And it’s important that people understand that.

I had planned to do something to commemorate Rare Disease Day appropriately, or to write a better post, etc., etc., but we’re in a bit of chaos ourselves right now.

Case had port surgery last week and all went very well. I could detail it moment by moment and by port failure minutiae, but I’d bore most of you to tears. Suffice it to say, we are extremely blessed that Case’s original port lasted as long as it did and we continue to hope and pray that this one will last until a new device is implemented.

But surgery and being gone for over a week adds a little chaos into your life. Case is out of school this week recovering, but with therapy 3 days (and infusion 1 day) this week, and we’re doing our best to keep him from pulling all his stitches out. And we have his IEP meeting to decide placement for kindergarten this Friday. And stitch removal on Monday. But although we’re busy, Case is healthy, and frankly, this schedule is not even a toe in the water for many rare disease families.

So, rare disease brings a little chaos, but a LOT of HOPE.

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