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Autism - Support Across the Spectrum Autism - Support Across the Spectrum

Finally going in for Genetic testing *update #1*

Posted by on Mar. 17, 2014 at 3:05 PM
  • 27 Replies

I've been trying to get an appointment with a genetic specialist for 5 months, and we're finally going in on the 25th. I was concerned that my insurance wouldn't cover it, because they gave us problems when we tried to get it done at a smaller lab with a faster wait time, but I just got word that they will cover it 100% so that's good. I'm assuming that they are only going to test my son, but it would be wonderful if they test my husband and I too because the reason I wanted the genetic testing in the first place is because I found out that I have some of the physical characteristics of Fragile X Syndrome. Either way, his pediatrician agreed that if his autism is not being caused by a genetic abnormality, then I probably don't have one either. I could always get my own testing done later if he does have one and they do not test me. 

Anyway, I'm mostly just getting it done out of curiosity because it really wouldn't change anything, but knowledge is power, and it would certainly help to know. 

I'll let you know if there are any interesting results! 

*UPDATE #1* 

Well, we had the initial appointment today, and it went pretty well. The doctor didn't notice any physical defects on my son, but he said that there usually aren't any. He doesn't think that we have fragile X because my sons speech is far more developed than what they would expect to see in a child who has it. He said that it is possible though, so they're going to test for it. He did look in my mouth and confirm that I do have a high arched pallet, which is one of the physical traits that are associated with it (among a few others that I happen to have like double jointed fingers and pectus excavatum which is an indented or hollowed chest). He mentioned that they would expect to see learning disabilities with fragile x, which neither of us have, but they're going to run the blood tests to rule it out for sure. They're also going to do another type of blood test which will test for all different kinds of genetic abnormalities. Also, the doctor warned us and told us that in his career, he has seen husbands and wives find out that they're related through genetic testing! Can you believe that? 

So, now we're just waiting for the blood test results, and I'll let you all know what they are. 


by on Mar. 17, 2014 at 3:05 PM
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Replies (1-10):
Rosebud27aj
by Amanda on Mar. 17, 2014 at 3:12 PM

Good luck!

lady_katie
by Silver Member on Mar. 17, 2014 at 3:22 PM
1 mom liked this

Thanks!

Quoting Rosebud27aj:

Good luck!


SamMom912
by Gold Member on Mar. 17, 2014 at 3:49 PM

Wishing you tons of luck for much information! 

lady_katie
by Silver Member on Mar. 17, 2014 at 4:05 PM

Thank you! :) 

Quoting SamMom912:

Wishing you tons of luck for much information! 


mypbandj
by Jen on Mar. 17, 2014 at 5:06 PM
1 mom liked this
That's great! I am curious to hear the results. :)
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Momof4AEMW
by Gold Member on Mar. 17, 2014 at 7:25 PM

Great let us know how it goes.  side question, do a lot of people who's kids have autism do genetic testing?  Or was there something you were looking for specifically (like the fragile x) that drove you to have it done?  My doc didn't even mention it as an option for us, not sure we need it as we aren't having more kids, but just wondered.

 

darbyakeep45
by Darby on Mar. 17, 2014 at 8:07 PM
1 mom liked this

Good luck and let us know!!!

lady_katie
by Silver Member on Mar. 17, 2014 at 10:43 PM

I get the impression that it's routinely recommended along with an autism diagnosis. When my son was first evaluated at 17 months (and told that he was too young to be diagnosed ugh) they recommended genetic testing because they couldn't deny that *something* was going on. Then when he was actually diagnosed at 24 months, that doctor also recommended it, so I'd say it's probably fairly common. I wasn't going to bother with it until the fragile x thing sparked my interest though. 

Quoting Momof4AEMW:

Great let us know how it goes.  side question, do a lot of people who's kids have autism do genetic testing?  Or was there something you were looking for specifically (like the fragile x) that drove you to have it done?  My doc didn't even mention it as an option for us, not sure we need it as we aren't having more kids, but just wondered.

 


samomama
by Sally on Mar. 17, 2014 at 11:31 PM
1 mom liked this

Great that it will be covered at 100% ! I am curious of the results too. 

MomOfOneCoolKid
by Gold Member on Mar. 18, 2014 at 12:04 AM
1 mom liked this

 

Quoting samomama:

Great that it will be covered at 100% ! I am curious of the results too. 

yup! 

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