Sunday, November 6, 2011

Competing with the Pink Ribbon

Most people don't know this, but Breast Cancer Awareness Month coincides with Rett Syndrome Awareness Month. I don't know who thought going up against breast cancer in October was a good idea, but I guess you probably wouldn't see very many purple ribbons regardless of the month IRSF chose. It's just not that well-known.

Quick recap: Rett Syndrome is a neurodevelopmental disorder caused by a genetic mutation resulting in a malformed protein. There are I think around 20 different known mutations all resulting in the same malformed MECP2 protein and gene. The mutation occurs on the X chromosome, so males do not typically survive since they don't have any properly functioning X chromosomes if they have a mutation. The severity of the disorder is dependent on the percentage of well-formed X chromosomes, which apparently is not always 50% like I would have assumed. Rett is an autism-spectrum disorder, but the symptoms are more commonly compared to cerebral palsy. Rett girls typically do not talk and only half are able to walk. The life expectancy is stated to be around forty, but most deaths I hear about are for girls in their twenties. One in twelve thousand girls are born with Rett.

Our little girl Rebecca has Rett Syndrome. She was diagnosed in August of 2009. The geneticist, Dr. Rope, walked me through the biological details of her specific case, and also Rett in general. He then said, "I can tell you all about the biological effects, but I've never had to take one of these girls home with me." I didn't realize at the time how apt his comment really was.

We've tried some to interact with other Rett families. We subscribe to some blogs (thank you everyone for sharing your experiences), we've been to a couple events (these are kind of depressing to me, I already have one Rett girl I don't need to see twenty more), there's even a mailing list. But when it comes down to it, raising a girl with Rett is I think a lot like raising any other kid: you just have to figure it out as you go. It's been great to get some advice for what to expect and how to make life a little easier, and Becca's doctors have been super helpful in knowing what to worry and not worry about, what equipment we might need, etc. 

But Becca is undoubtedly her own person. She gets annoyed if you touch her face. She thinks it's funny when her siblings cry. She doesn't appreciate it if we leave her inside by herself. She's not a big fan of mashed potatoes, but she loves cole slaw. She needs some time and space when she first wakes up or she'll be super grumpy. She loves to wear cute outfits and likes to play the piano. We recently discovered that she thinks The Nightmare Before Christmas is hilarious. She doesn't get as many opportunities to express herself, or to make decisions for herself, but it's very clear to us that she has opinions on things and that she is fiercely devoted to her family.

We are so grateful for our little Becca. I know some people think we're crazy for having more kids after giving birth to a disabled child, but I don't think there will be much that's more valuable to our other children than having the experience of growing up with their sister in our home. It makes us all think a lot more about what it really means to live a "full" life, and what God intends for each of His children when we can't even be sure some of them will ever be able to walk or talk.

At least, not in this life.