Fragile X syndrome - Autism Spectrum Message Board

edaisy80 · 09-25-2004, 11:11 PM

Has anyone had their child tested for the fragile X chromosome? PDD-NOS is what my son was diagnoised with in March of this year. Up until then he was just said to be severly speech delayed and developmentally delayed.( But that a long story of its own) Anyway I just started talking to my son's friend (who is his classmate) in June. Were now friends. Well her little boy was diagnoised when he was 2 1/2 years old with PDD-NOS. She gave me alot of insight on this disorder. She had her son tested for the fragile X chromosome right after she found out he was PDD. He doesn't have it. Well its only been a few days since she thought about it and printed an article for me to read. It says on the article that it is important to have a child with ADS tested. Has anyone here had their daughter or son tested. I'm going to have my son tested for it. He's also never seen a nurologist so I'm trying to get him into one now. He's started first grade in Auguest and he's doing really good so far. He's starting to learn to read. He's a little con. LOL He's hates to write his letters or his name so his teacher lets him type them on the computer at school and print them. (He's knows how to write them he just doesn't like too). I recieved his homework package this weekend and it had a little note saying "Let him type his words on the computer and print them out." He doesn't like writing but he loves to draw and will sit for hours just drawing. I think I have a little artist on my hand. I have a whole notebook of drawings just for this month I can't seem to keep up with him on papers and supplies. I guess I need to start stocking up on those things like I do groceries. Sorry I got off subject if anyone has any insight on the fragile x chromosome I would appreciate it.

ang64063 · 09-26-2004, 08:42 AM

I wish that I could help you, but I don't know a bunch about it either. We are in the process of getting my son tested for it. I do know that one of the things about Fragile X is that the kids who have it have flat feet. My son just recently received a diagnosis of flat feet and knock knee. For my son being flat footed has caused him to have sore knees, poor muscle development in his lower legs, causes him to walk with his feet pointed in and his knees kept together. I am going to try my best and get him in to see a Orthopedic doctor as soon as I can get a referal from the Developmental and Behavioral Clinic.

My son also has an appointment to have some Genetics testing done a few days before Christmas.

rywilli25 · 09-26-2004, 01:49 PM

hey there I had my daughter tested for fragile X, Prader-willi, Angelman's, and she also had the female chromosonal testings. All came back normal. She is diagnosed ASD. It was just a simple blood test, but it took forever to come back. It took about 6 weeks to get the results. Hope everything comes back normal.

edaisy80 · 09-26-2004, 10:46 PM

Thanks for the replies. I'm going to push for them to test him. Ang64063 my son has flat box like feet. They look like from that catroon the Flintstones. He can't skip, stand on his tippy toes, stand on one foot for more then 3 seconds, and he also can't put one foot in front of the other and walk. (you know like you see them on those police shows how they make Drunk drivers walk the line). He's just now starting to peddle a bike but he prefers to have riding toys that he doesn't have to peddle. My mom bought him a bike last year for Christmas because she thought he would like it. It got on it twice for less then 5 minutes and got off. I gave it to one of his friends about a week ago because it was just sitting there. Last Sunday for the first time he picked up a scooter and started riding it (the 2 wheel kind) and he really seem to enjoy it. They said at his OT/PT test that he was ok. Since he could do them for a little he had the ability he just perfers not to I guess.

toodles08 · 09-27-2004, 03:05 PM

we did the blood test for this too. we were told before we could get an "official" diagnosis of Autism we needed to rule out anything we possibly could. Therefore the fragile x test along with all other blood work we did. I am so happy that our pediatrician had the foresight to do this as we found a rare kidney disease my son had that we may have never known about!

I say get all the testing done that you can, we are due to see a geneticist the middle of next month! And we did get our official diagnosis last monday of childhood autism.

Sondra