Update on Recent Testing

Update on Liver Enzymes: 

Due to Wade's elevated liver enzymes, he had some blood work and urine tests collected to test for mitochondrial disease or any metabolic issues. (see this post). These tests all came back normal and the reason why his liver and pancreas looked the way it did in the ultrasound is because of SDS, not anything else. Thank God!

Update on Bone X-Ray:

The geneticist ordered a full-body bone x-ray since SDS patients typically have skeletal dysplasia (see this post). The results from the x-ray indicates what they would typically find with SDS patients. The geneticist did not find any additional concerns with Wade's bones. He just suggested continuing physical therapy to increase muscle tone.

Update on Parental Genetic Testing:

To confirm Wade's SDS genetic confirmation, they tested me and Adam (see this post).We're currently still awaiting these test results.
**4/26/2012 Update: The genetic test from me and Adam confirmed that each of us carry the SDS gene. Therefore, since we are both carriers, it is a 25% chance that other children we conceive would have SDS too.

Weekly CBC's:

As a way of figuring out the best dose for Wade's Neupogen, we do a CBC weekly--on Monday's. We originally had Wade on Neupogen MWF for about three weeks. Then his counts were too low on Monday, so we changed the dose so he would receive it M-F. After one week of M-F, they noticed that his ANC was still too low on Monday. So next they changed him to receive Neupogen daily (M-S). After one week of daily injections, his ANC count on Monday was 9,450! WOW! So, the Neupogen really does work but the hem/onc doctor said it doesn't need to be that high. So now we're back down to 5 days a week, but instead of skipping Saturday & Sunday, we're skipping Tuesdays and Fridays to keep his counts a little more balanced throughout the week.