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Normal Female

Posted Aug 24 2008 1:27pm
As part of the process and follow-up we went through to secure the Bear’s ASD diagnosis, we were eventually offered access to genetic testing. My first post was about autism and genetics, in which I suggested that while ASD has clear genetic links, there is evidence from MZ twin studies that more than just genetics or epigenetics is required to explain a significant proportion of ASD cases. As such, I was interested in what such testing might find.



I’ve also previously written some thoughts here on pre-natal genetic testing, if anyone is interested. But at this point, genetic testing of the Bear was presumably past most of the potential moral hazard issues. As such, I figured, why not? If any issues were to be detected then at least we would know and could plan for them.



So, last summer the Bear and I met with a Doctor who specializes in genetics and apparently ASD too, and went through all of the family history. The Doctor explained what they were looking for - in some cases particular alleles, in other cases duplications or omissions of genetic material – and how the testing would be done, and we agreed to go ahead. Some of the testing was to be done in the U.S., so we also had to fill out a form to get OHIP to cover this out of country work. It was approved, and we could proceed.



We waited until September to get the blood work done, as we wanted to combine it with a couple of other tests (regular stuff – nothing fancy). Let’s just leave it at saying that pinning the Bear down to draw blood is not an easy feat (she is quite strong! And feisty!), so we prefer to do this as infrequently as possible. We managed to get the blood with most limbs still intact (ours, not hers – she was fine), and off went the samples to various locations in Canada and the US for the genetic testing.



Four months after the blood draw the Hospital for Sick Children in Toronto (AKA Sick Kids) had announced another one of those

‘breakthrough autism tests’
. We thought that we had probably missed this one, but this test too was performed.



It took several months for all of the results to come back, and last month I went in for a meeting with the Doctor to discuss the results. The test interpretation read:



"Microarray analysis of 622 loci using 1887 BAC clones for the subtelomeres, pericentromeric regions and known genetic syndromes (see attached list) detected no abnormalities in the DNA of this specimen. Thus, this is a normal microarray result showing no alterations of the loci tested."



All tests were negative. The Doctor told us that further research was being conducted, and that we should come back in about five years to try again. I wasn’t surprised at the results, but I was a bit relieved. Future tests may ultimately detect a genetic variation that caused the Bear’s autism, but I would not be surprised if the result instead is the identification of a genetic vulnerability rather than a genetic cause. Personally, I lean to immune/auto-immune causation in her case, but we’ll see.



The relief came from the fact that – at least so far – genetics has not proven to equate to destiny. Some may seize upon that statement as indicating that I’m a ‘curebie’. While I don’t disagree with those who are seeking a cure, this is not what I mean. FWIW, the Bear has been autistic for such a formulative period in her life that it has shaped her development, and I believe it will always be a part of her. But autistic thought and outlook to my mind is not the same thing as some of the difficulties associated with autism, and to the extent that these difficulties are not genetically based, they may be open to amelioration.



For those who need an example, the Bear constantly touches objects as she passes them, not in an investigative manner, but in what appears to be an attempt to generate location-related sensory input to be able to understand herself in relation to her surroundings. If so, then this suggests that she has sensory integration issues related to physical self-awareness within her environment, which - if anyone has read my 'ASD as a Developmental Disorder - A Suggested Neurological Underpinning' post – may ultimately result in significant further consequences related to her interoceptive capabilities. If so, then ‘fixing’ this particular SI issue could ultimately lead to the potential enhancement of other neurological capabilities (sorry, but you have to read that post to understand this – it is far too involved to fully explain here). It wouldn’t change who she is, but it could potentially add to her capabilities. And if I’m wrong on this, ‘fixing’ this issue would still enable the Bear to more capably and comfortably understand and maneuver within her environment, which presumably is a goal to which no one would object.



Anyway, I went away with a copy of the tests, and sat down that night to read them in detail. On the cover of the results was an explanation page, and in the space next to ‘Result:’ were the words ‘Normal Female’ . This pretty much sums it up for me. The Bear is not neurotypical, and for a while we had some issues accepting this. I'd say that today we are much further along that path. We work hard to help the Bear become the best and most capable Bear that she can be. But along with this is an acceptance of who she is - our adorable and happy little girl. She is our everyday normal daughter.
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