now we know...

Dear little Leah, 

This morning my fears were confirmed: you were officially diagnosed with Rett Syndrome. Simply speaking, Rett Syndrome is a severe genetic disorder that affects the way your little brain is developing. You developed normally (or what appears to be so) until about 18-20 months, but your progress has slowed – and reversed – since that time. 

Many other girls with RS have problems using their hands, speaking, walking, chewing and possibly even breathing. There is no cure (yet!) for Rett, but there are things we can do to help you feel better. 

You have great teachers at school. In fact, your teacher, Jan, is the one who mentioned Rett Syndrome in the first place. She did a lot of research before she decided to talk to us about it because she wanted to be certain before she made us worry. And, although it did make us worry (and still does), we are so grateful that she took the time to really try to figure out what was ailing you. Her aides Patty and Helen are equally as wonderful. You have an amazing speech therapist, Asha, to whom you have really taken a liking. She is willing to try all sorts of things to help you communicate and doesn’t get frustrated when something doesn’t work like she thought it might. Marian is your physical therapist and she also works very hard at trying to make you more comfortable and more successful in your movements. Right now you sometimes wear a weighted vest and we’re trying out a compression suit this week (which, by the way, you look very cute in). 

You make repetitive, purposeless movements with your hands, but we’re hoping if we can keep that under control a little bit, purposeful movements can be more common. You are pretty good at using your spoon, you know. 

You don’t sleep very much. That means your dad and I don’t sleep very much. Hopefully we’ll get that back in order sooner rather than later. We wouldn’t mind if you’d just keep it to yourself, but it seems like you’re in pain and you let us know! We think your tummy hurts, so we’ll try to get that feeling better soon too. Since we live in an apartment with people living below us, we have to get you quiet pretty quickly. We’ve spent many a night lately watching videos with you (Signing Time, Clifford, Abby Cadabby and Backyardigans are some of your favorites), going on drives with you, sleeping in the car with you and just trying to cuddle you. 

As of last week, you lost all of your words. I think I remember hearing you say “please” and “oh no” last Friday, but I haven’t heard anything other than grunting since. This makes mommy really sad, but I need to remind myself that just because you can’t speak, doesn’t mean you can’t communicate. We just have to figure something else out. 

I could go into lots more detail, but more than anything I just want you to know that you’re still my little Leah. I love you just as much today (okay, maybe even more!) as I did before. I’m going to try my best to be patient with you and understand how you learn and grow. Can you do the same for me? I’m new at this too. But I love you. Lots of people love you. Always remember that. 

Love, Mommy