Out of the handful of Rett Syndrome charities out there, I like RSRT the best simply because their financials are pretty transparent and they spend the overwheming bulk of their money on medical research. So I feel like when I ask my friends to donate their $ on behalf of Edda, that their money is going straight to a lab full of pipettes and test tubes and Sharpies and DNA polymerase – all things I like and am familiar with.
RSRT recently put together this video for one of their largest fundraisers. It mentions that all Rett girls are smart and clever and trapped in their uncooperative bodies. That they all have something to say and we need to find a cure in order to release them.
I think that the gene mutation for Rett Syndrome impairs a fundamental function in all of the neurons in Edda’s brain – that her cognition (her “smartness” or her “cleverness”) is actually very low. It’s not to say that she should not be a valued member of the community – that she is not worthy of our love, attention or committment as a society. It does not mean that she is any less than the rest of us. Frankly, if if was so important to be smart or clever, I think most of us would be standing on the wrong side of the line of the ground because aren’t we just all bumbling around making mistakes and doing stupid and silly things all the time? (Well, maybe just me.)
And I sometimes think that I’m the only Rett parent who is relieved and hopes that Edda doesn’t understand how much she’s missing out on – that she’s happy with her very limited and circumscribed life and not pining for all the things that she’s missing out on – true, deep friendships full of secrets and and gossip – running through a field in the bright, fall sun chasing golden leaves – finding a secret hiding place on her own where she can read a book for hours at a time with a bag of M&Ms – and dancing and dancing – and taking a biology class with a really great teacher, like so many great science teachers I’ve had, and learning about evolution and gene mutation and meiosis where the whole trouble with the missing guanine began!