Rare Syndrome

My son turned 3 on Valentines Day and was diagnosed with Autism the next month. When he was born he weighed 12.1 pounds and was almost 23 inches long. Yes, I had a c section. He doesn't talk very much and had some of the odd behaviors like lining things up and having to have the SAMENESS of everything, spinning in circles and watching ceiling fans, etc. The place that diagnosed him said, "we think that your son is very unique" and might have fragile x or mosaic down syndrom (syndrome). they recommended a chromosome analysis/genetic testing. In the meantime we have taken him off of gluten and noticed that he has stopped spinning in circles and he seems less 'zoned out'. We will work on dairy next, it will be harder to take away chocolate milk than the cheetos. :0)
We traveled 3.5 hours to see a genetic specialist and get a blood draw just to get there and be told that the insurance hadn't gone through and all he could do is 'look' at our son and tell us what he thought. After talking with us, taking pictures of our son and bringing in another specialist to 'look' at him and then conferring with him, we were told that he thinks that our son might have Weaver syndrome. I researched it and found out that there have been less than 50 cases of this EVER-isn't there a good doctor out there that would be interested in something like this? We just really need some answers, and between the insurance and the small town doctors it looks like we won't be getting any unless I scour the earth in search of them! Someone please point me in the right direction, WE NEED HELP!

[Jason C Bourret, Ph.D., BCBA-D]

Autism diagnoses are behavioral and a child may recieve one because of deficites arising from a number of different problems. There are two things for you to consider. What should you be doing for your son right now and why does he have these delays. Finding out the cause is often most important in case it would change the approach that you're taking in helping your son. As far as identifying a particular disorder, the best approach you can take is to continue to seek referrals to specialists who can make a proper diagnosis. In the mean time, for both Fragile X and Weaver syndrome, the best thing you can do is to make sure that your son is receiving services addressing his particular delays. There is no cure for either and children with these disorders can make substantial progress from early intervention. I also have to caution you away from the dietary approach to treating these disorders. They have been researched thoroughly and there is no reason to expect that they will help your son. The best thing that you can do is to be aggressively addressing his skill deficits and behavior problem through intensive behavioral intervention and teaching.