Geneticist Appointment

Whew. That was a long two hours.

They started off with the his developmental history, then requested most thorough family history anyone's wanted to know. By the time I got through my children, my sibling, my parents, my parents' collective 12 siblings, my grandparents, my 7 first cousins and their respective progeny, the paper was already full. Then we began Dowlan's four siblings their assorted children and grandchildren (the number hovers in the two-dozen range), his parents, their collective 19 siblings and untold quantities of progeny and his grandparents, you could tell that they had not supplied enough room in the little box for our family trees. They got in all the people and had to make room for all their various medical maladies. They also weren't entirely certain as to how to notate Dixie, but she's on there somewhere.

Then the geneticist came in and checked out Charlie a bit. She was the sweetest medical professional I've ever encountered and her examination of him should have been videotaped and shared with all pediatric specialists of dubious bedside manner.

After running him up and down the hallway, measuring his cranium, inspecting the base of his spine and counting his testicles, it was time to hear the news.

Basically, there are three other children in the database with his particular microdeletion and, after hearing the brief rundown of their issues, we clearly got off lucky. One presents with mental retardation, one has neurological issues yet undiagnosed, and one has diagnoses such as austism, mental retardation, microencephaly, etc.

We are so very blessed.

From those whose parents were tested, they were passed from a neurotypical mother to an atypical son. Normally, with a microdeletion, the other chromosome in the pair will compensate, but the failsafe doesn't always work. While no one else in Dowlan's family has an autism diagnosis, there is a strong prevalence of remarkably intelligent and socially awkward males. (My apologies to anyone in Dowlan's family who is reading this--I love my nephews and find them all remarkable individuals, but you would be hard pressed to find any of them to be average.)

The working theory is that Charlie got a little from both sides, which turned in to a lot.

We were also told that the statistical likelihood of future children having the same deletion and problems arising from that deletion is 50/50. (I'm assuming that has to do with 50/50 being the odds of having a boy, but remember that we're working with an incredibly small statistical sampling here.) While we could do this same test prenatally on an already-conceived child and know before birth if we should expect similar issues, that's not all that helpful. I would not terminate a child for any reason, let alone the reason of 'being like Charlie'.

She also said that, by the time Melody goes to have kids, they will know so much more that it's no use worrying about it now. We're going to do some further testing on Charlie and see her back in six months. She sent in a social worker who had some leads on how to get help, with or without the school district. Since one of the papers that she's drawing information from was only published in the last few weeks, we'll likely know more in time. It's all so very new.

So, in a nutshell, Charlie has remarkably few problems considering and, as far as more kids goes, we should quit while we're ahead.

Not that we're planning more children . . . just that we didn't plan the three we have now (just like our mothers didn't plan for either of us) so it's hard to say that planning no more kids is going to do us any good. While now is clearly not the best time to bring any more children into the world, I don't intend our current poverty to become a permanent condition.

Just another reminder that God knew exactly what He was doing when He brought us our Dixie.