Geneticist Update

So the appointment went well but here comes the next round of tests. Every time we end up getting scheduled for these things I feel a bit panicky because it's kind of the "we're looking for problems" scenario. We've went so long without tests that I had kind of fallen into a comfort zone about it. I suppose this is just how it goes. :(

He would like to do a CT scan to figure out why her head won't stop growing. Her external hydrocephalus should've started slowing down by now but it hasn't. He also wants to do a battery of blood tests including thyroid, carotene, and growth hormone. Lastly, he would like to do the bone age scan that they do for RSS kids. They x-ray the hand and measure the plates and get an estimated age.

Most children have bone age and real time numerical age as the same number. RSS kids have a lot younger bone age to numerical age but as they get older they average out. Instead of staying there the bone age continues to advance faster than the numerical age to the point that their growth plates close and stop growing much earlier than they should for their numerical age. This is why puberty is way too early and adult heights are obtained by ages 12-14 years versus the average 16-25 years.

Oh! And she was 21 lbs even and 30". Her head is 22". And even though it has nothing to do with the doctor I thought I should mention that she wears a size 3 shoe and size 12 month clothing. Her birthday is in October and I'm so excited!

Appointment Tomorrow

We have an appointment tomorrow with the geneticist. Back in June I had asked him to write up an order to have my oldest genetically tested (microarray/SNP) for any defects due to his Aspergers and Tourette's. He does not have a growth deficiency like Elenor but the neurological side of things had me concerned. I suppose I needed to know for sure that it was environmental. In a way I guess I needed to check and make sure I didn't play yet another hand in making a child who wasn't "whole". Elenor having MUPD 2 is extremely rare. Like crazy rare. And the effects of that mutation are really unknown because of that. A lot of kids who are on the Autism Spectrum tend to have mutations on chromosome 2 or elsewhere. Surprised me when he came back clean as a whistle. It doesn't mean that he doesn't have SOMETHING - SOMEWHERE - but it means that he doesn't have what she has. It was a relief. But felt confusing too. It was as if I was desperate to have been told that it was the cause so I could pin it on something. When we found out that Elenor's issues WERE genetic it felt like a weight had been lifted on me and put back on. Having any child with an issue is hard. And confusing. :( I will try and post her stats from tomorrow's appointment as soon as possible. I'm hoping to confirm whether or not she has low blood sugar. A couple weeks ago at her nutritionist appointment she was 20lbs and 29". Her head is 22". Updated picture: