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Old 06-01-2005, 04:36 PM   #1
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marissamm HB User
genetic testing

my son is 16 and hfa autism dx. at 4, i never had genetic testing done, can anyone tell me what it is if its a help? my sons new doctor is ordering it.

 
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Old 06-02-2005, 08:28 PM   #2
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Re: genetic testing

I don't know if my story will help but here goes. My son was diagnosed with autism three years ago. He had all the signs and symptoms so nothing ever made us question the diagnosis. He got good early intervention and was doing great. He was talking three to four word sentances, labeling everything, requesting what he wanted, and had no behavior problems whatsoever. Well....Back in December he got tested and was diagnosed with epilepsy on top of the autism. Once we started him on medicine he started have 90 seizures a day. The seizures only last a few seconds to a few minutes. The medicine hasn't been able to stop all the seizures yet and he has been on three different ones. Also, he regressed dramatically. He doesn't talk anymore, doesn't understand us, has severe behavior problems (THIS ALL HAPPENED IN 6 MONTHS).

We recently saw a geneticist. We told her his history and problems and now she thinks he has a metabolic disorder (specifically a mitochondrial disease). All him symptoms add up; developmental delays, high lactic acid, consitipation, regression, uncontrollable seizures, etc.) So now we are going through tons of tests to find out if what is really going on.

My point is, I spent three years thinking he had autism and researching and reading dozens of books. Maybe he still does in combination with other things. But if it weren't for the other tests, we may have never known something else was going on.

God Bless

 
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