I was born on June 5, 1993. I put my mom through a tough time just to come into the world, and scared the heck out of her when I didn’t breathe right away, but after that little glitch, I was off and running. I reached all my milestones and right on target. I was a funny baby and super smart! Then when I was about 15 months old I just sort of stopped learning anything new, next I started to lose my skills- I couldn’t talk anymore, drink from a cup, play or use the potty, I started to crawl instead of walk, but the biggest, saddest thing of all was that all my words went away. I was so frustrated. Mom didn’t know what was happening, I didn’t know what was happening and all I could do was scream. I pulled a lot of my hair out and started to bite myself and bang my head. Then came all the testing.
Mom says one of the hardest things was watching me get poked eleven times just to get blood and then finally the doctor got it from my jugular vein. She says she’ll never forget that, ever. Some things my mom wouldn’t let them do, like a muscle biopsy. The doctors disagreed with what was wrong with me, but when I was about five or six they discovered the gene that causes Rett Syndrome, I got tested and came up positive. Mom says it was helpful to know for sure, but that she already really knew. By this time I had lost a LOT of weight and developed seizures.
Now I’m 26 and things are a bit better. I can say a few words and I had a Tobii Eye-gaze device. Look it up! It’s super cool. I did pretty good with it, but it was too slow for my pointing and since I’ve made even MORE progress with my words and using a Yes/No app my mom donated it to another student.I’ve stopped losing weight years ago, and now mom has to put me on a diet, go figure, ha ha. I don’t have seizures and can feed myself if I want to. I can walk and run and catch a ball, but my FAVORITE thing is swimming. I’m really good at that. I love school and I have lots of friends. I still get frustrated, though, and still tend to hurt myself and scream when something upsets me, my routine changes and when I can’t say the words I want to. But, not as much as I used to.
Rett Syndrome has been reversed in mice, one day there may be a cure for me!