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Thursday, February 28, 2013

Caring About Rare

Today is Rare Disease Day in the United States and much of the world. The day recognizes the millions living with conditions that don’t get as much attention, and in turn, funding, as those that affect more people. The idea is that alone, we are rare, but together, we have hope.

The Boy is a rare one. He has a chromosome deletion, which until he was diagnosed with it, I had no idea could exist. You might have flipped to the back of the pregnancy book to what I call, “The Scary Pages” and seen the risk statistics for things like Cystic Fibrosis, Spina Bifida, and the most well-known chromosome abnormality, Down syndrome. But then there’s another category, the one labeled Other Chromosomal Abnormality. The boy’s deletion is an other.

I had heard of Down syndrome, and knew it involved having an extra chromosome, but I had no idea pieces of chromosomes could be missing. And I’m a smart girl, but as a communications major, I didn’t take a lot of biology courses, so this was all new to me.

When we got the diagnosis, we were told The Boy was 1 of 12 known cases in the world. Now we know there are a few more, maybe 40 or 50 or more, which still isn’t that many. But they are out there, and we have found them!

With the power of the Internet, we have found others with The Boy’s deletion and similar deletions on the same chromosome. We have found a community. We have found hope. And with that, we don’t feel as rare as we are.

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