Genetic Testing Results

Today we went to UNC Chapel Hill to the Pediatric Genetics clinic to get the results of Owen’s (and Tom’s) genetic tests explained to us. (This was from when Owen had his blood drawn back in April—it takes a month or so to get the results, and then Tom and I had to get ours done and wait another month, and then it took a few months to get into the specialist.)

Previously, all we had been able to tell from the greek-to-us multi-page results was that both Owen and Tom had the exact same markers (Owen’s and mine didn’t match at all so I basically got no results for me). But the thing with genetic testing (that our developmental pediatrician told us) is that there are MILLIONS of combinations of things and the science is still so new that they maybe only know what (for example) 50,000 of the possible five million results mean. So while they can tell you something isn’t right, they can’t tell you exactly what effect that might have.

So today we got to talk with a genetic counselor who gave us more information. She still couldn’t really give us any more information on what effect the gene mutation has (like if it’s the direct cause of his autism or autistic tendencies) but she was able to tell us enough about the mutation that we can pretty much rule out it being anything serious.

Let’s see if I can explain this.

Basically, the part of the gene that has the mutation is in the middle of the chain—which is better than at either end where two chains connect (if it was at either end, it would definitely cause much more noticeable issues). So my brain worked it out as “It would be like origination and destination points of your trip are set in stone, but the route is variable. If either end changes, the whole thing changes, but if the route changes, it’s not a big deal.” She agreed it was an apt correlation.

Also, the other good point is that he isn’t MISSING anything on the strand—he actually has an extra set of something (his own plus the double set from Tom for a total of three instead of the normal two). And the set of three is fine—if there were four sets it would be a major problem. And lastly, since Tom has the identical genetic mutation and had absolutely no issues growing up (or today), it’s very unlikely (statistically impossible) that it is causing Owen’s issues.

So taking that and all his background (and our family’s backgrounds) into consideration, she didn’t see any reason to think this mutation was the cause of the autism and said we really don’t have anything to worry about. She will research it more to see if she can find anything, but she doesn’t expect to find much. She said the only time we will likely need to think about it again is when he hits the teenage years and/or wants to have kids—in case they have come up with a defining characteristic of that specific mutation or if it will have any effect on his own kids. We were told not to worry about getting Katie tested at all unless we started to notice any issues.

So basically everything scientifically is good…now I just have to get the in-home therapy started so we can work on his minor issues.

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