On Being Rare

On Being Rare

We just celebrated Rare Disease Day on February 29th, which in itself is rare!

Having a child with a rare diagnosis is a hard, wonderful, terrifying, liberating, and exhausting thing. There are 6,000-8,000 rare diseases that have been identified. Then there are cases like many of our friends who do not have an official diagnosis.

It is difficult when you have to explain to doctors, therapists, and others that you are not really sure what is going on with your child because they have no idea what should or should not be happening either. It has been a year and a half since we received our official diagnosis of Dravet Syndrome. I cannot count how many people have gotten a perplexed look on their face and said, “I’ve never heard of that one.”

Being rare means that you have a more difficult time finding professionals who can help you. It almost becomes your family’s identity, since your world pretty much revolves around the person with special needs. It makes for a more difficult time getting insurance to cover expensive tests, procedures and medications. It is rare to have conversations that don’t include the words therapy, treatment, genetics or development and it puts you in a category that is far beyond “normal”…whatever that is.

Now, the majority of parents won’t leave their child with just anyone. I personally have to give at least 20 hours of supervised instruction to even RN’s before I will leave them alone with my son. His case is not textbook, so they never really learned about him in school — no matter how much time they spent in the classroom. Add to that medical knowledge, personality and physical capability and it sure makes it hard to find a baby-sitter!

For us, it has been a great blessing to have a label, definition, diagnosis, whatever you want to call it, to define what is happening to our son. There is something wrong with his DNA and that creates a domino effect on every other aspect of his life. Mine, too. We find great strength in the few other parents we know who have a child with Dravet Syndrome or another rare disorder. Because, come to find out, being rare isn’t so rare. There are so many others out there, official diagnosis or not, who just want the best for their child. There is strength in numbers. Even if we feel so isolated and alone because only a handful of people in the world have a child similar to ours, it is great to know that there are a couple of people that we can reach out to and have the “I’ve been there” talk with. Anguish, pride (the good kind), heartache, joy, excitement over seemingly simple things, confusion, exhaustion, defeat, frustration, victory, pain…these things are not so rare.

Photo by Clarkston SCAMP

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