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Wednesday, June 8, 2016

My Little Cricket’s Delay: Genetics Results

In March of 2016 I took my Little Cricket to his general pediatrician about my sons delays. On that day I got a referral from her to do a genetic test. It took 3 months to get an appointment with a geneticist. It took another 6 months and three rounds of denials to try and get my insurance to cover the tests my son needed. And then in January my husband’s insurance switched; which means that I had to start the process all over again. SIGH,

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Finally in April 2017 I got an approval from my insurance for 2 of the 11 tests my doctors recommended. We decided while I continue fighting insurance I would at least get the two tests we did get approved done. We got the blood drawn, the blood was sent to the lab and we waited to get the call to come in for the results. That call came in and we went in for our appointment today.

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I didn’t know what to expect. I really had no expectations. I am done with expectations because I am almost always blindsided. So with no expectations our geneticist explained how my son has a rare duplication on his 16th chromosome; duplication on the short P arm in a few different areas. She proceeded to explain that this duplication is rare. That there are not many documented cases of people with it. And even the ones that do have the exact same duplication on the exact same line have duplications on different genes. They do know that kids with this duplication have speech delays, they have global developmental delays, that some kids develop ADD and a very few 7% end up with a grand mall seizure disorder that shows between the ages of 4-9.

My geneticist also stated that because of this new information and the duplications that my son has that there is no way that he has Autism. At first I was in disbelief.

Absolute frozen terror.

I have just spent the past four months trying to come to terms with the fact that my Little Cricket has Autism. But a part of me has still fought it. I didn’t want to let this kernel of hope spiral out of control. Because what if she is wrong.

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I am more confused than ever. On one hand this could be an amazing thing. Finally a black and white answer to the question I have been asking over and over and over again. On the other hand what if it is a genetic mutation that caused his autism.

The geneticist, when she met my Little Cricket last year, didn’t think that my son had autism. And now she is adamant that is not what he has. She said that children that get labeled with autism and who grow out of the label in her opinion never had it in the first place. And she was positive that by age 6 or 7 my Little Cricket will no longer meet the autism criteria.

For now my head is spinning. There is no doubt that this is another piece to the puzzle. How it effects the whole picture is yet to be seen.

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