January 17, 2007 - The Geneticist

Ben - Jan 17, 2008 Almost 4 months
OK, so we have had another doc visit, this time with the geneticist at Primary Childrens' Medical Center. We were hoping to have the results of the high resolution chromosome test for the visit and we were lucky enough to get them just in time. Additionally, we hoped that the results would tell us whether he has cri-du-chat or not.

So, to get right to the chase, they were not able to get a "high resolution" test from Nathan's blood. It was more like a low resolution result (I guess babies' blood is notorious for not allowing high res results). Anyway, the good news is that the "lower res" results did NOT show a chromosome abnormality!

We had to be checked in our excitement with these results, as all the docs assured us that it does not rule out chromosome disorders that cannot be detected at that resolution. The geneticist felt that Nathan had enough of the signs (he does have quite a lot of them) that a chromosome disorder is the most likely explanation. Bummer.

We are encouraged, however, that the low res results showed normal because the more severe cases of cri-du-chat and other disorders would be identified in this test. This gives us hope that whatever he has will be a more mild case.

The next step is to go to the super-dee-duper chromosome test that should show about 6000 points instead of the 550 on the low res. This test costs a bundle of money, so we are going to have to wait and hope our insurance doesn't cause too much of a stink. The insurance usually takes a couple weeks to respond to the request, so we will wait and see. Results to the test (after we draw blood for it) take another 3 weeks to a month). So we are back to the waiting game.

The geneticist does NOT think that Nathan has cri-du-chat. His best guess would be Williams Syndrome. But Nathan does not have a couple of the most prominent features associated with Williams, so basically they are stumped. Results to the super test will be our best bet at finding answers, though the geneticist said that there was only a 15% chance that it would reveal what is going on with Nathan. It may even be the case that Nathan has something unique (uncharted territory baby!).

Aside from all the doctors (Nathan is currently on the radar of 6 doctors, and a few specialists who will be making house visits), he is doing quite well. Some of the red flags that started this ball rolling aren't as "red" anymore. He can focus and "follow" with his eyes much better, he shows signs that he can hear okay, he kicks his legs, is starting to play with his hands (and open them more), and can roll part way over (from back to side or front to side). He seems to be gaining weight a bit more than in his first couple months and is smiling a lot with the cutest big grin ever!

He still has his moments of pain and discomfort (as Tara can attest to-- some days more than others) but is doing quite well. He might be doing even better if his next oldest sister didn't "love" him quite as much as she does. :)

Thank you all for your prayers, thoughts and service. We have felt that impact greatly and know that we are being blessed immensely.