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.

Appointment Last Week

Sorry for the late post, but W had an appointment up in St. Louis last week to see his GI doctor. My mom went with me for this visit and we stayed with friends the night before. Our day started early because he had a 7:30am appointment to get an ultrasound done of his liver. His liver enzymes had been elevated and they wanted to take a look at what was going on. Poor W had to fast for this procedure and he was not that cooperative when they did the ultrasound. It didn't hurt, but my little boy hates being held down. The ultrasound tech was able to perform the ultrasound, but then had to do doppler--which meant Wade had to be quiet. So, luckily she let him take a bottle during this, otherwise he wouldn't have been quiet.

Grandma and Wade playing in the waiting room.

We finished the ultrasound before 8:00am and had a huge gap in our day because our clinic appointment with the GI doctor wasn't until 1:30pm. We originally thought of going to some thrift stores in the area to pass our time, but since the weather was amazing we went to the St. Louis Zoo. We were able to save money on the parking and the Children's Zoo because we were there so early. We enjoyed the weather, the animals, the carousel ride, the train ride, and the ice cream! However, around 12:30pm, we had to head back to the hospital for our other appointment.

Mommy and Wade having fun at the Zoo.

Back at Children's, Wade had a 6-month follow-up appointment with his GI doctor. He explained the ultrasound results from that morning to us. They found some abnormalities with his liver and some fatty deposits on his pancreas--all to be expected since he has Shwachman Diamond Syndrome. They believe that this is all caused from SDS, but to be sure, they've ordered lab work that would test for any other metabolic disorder or mitochondrial disease that may also elevate liver enzymes and cause these abnormalities. In addition to the ultrasound results, I mentioned my concern with Wade's poor weight gain in the last three weeks (he only gained 2 oz in the last 3 weeks). However, the doctor and I both believe that since he has learned to walk, W is now burning more calories and that has been playing a part in his weight gain. So, it's not an immediate concern, but we will still do weekly weight checks. Lastly, I had to confront W's doctor about his rude nurse that is super condescending to me. I explained the several events in which she is unprofessional and I requested to see a different doctor so that I wouldn't have her as a nurse. He is going to speak with the director of the GI clinic to request a change.


Before leaving Children's, we tried getting W's blood drawn that the GI doctor ordered. However, the lab techs couldn't get a good vein (go figure!). So, we'll have to try again on Thursday when we go up to visit a Geneticist. So, after an early morning ultrasound, a trip the zoo, an appointment with the GI doctor, and getting poked in each arm, we finally headed home! What an exhausting day for all of us--but the zoo was definitely worth it!