November 21, 2008 mcfadyena

I had an appointment with Dr. Stockler today, so have many updates!

I had an appointment with Dr. Stockler today, so have many updates! Since diagnosis, Trey has had 3 cardiology appointments (echo and EKG’s). The first results were normal. In January 2008, his results showed thickening of the valves. Trey’s results from Nov. 3 also show thickening, but what they don’t say is whether these recent results are worse than or the same as the results from 10 monthes ago. Dr. Stockler is going to meet with the cardiologist in December and then meet with me to discuss.
Trey’s sleep study results are not entirely conclusive. We do know that he does not have obstructive sleep apnea, which is what the doctors are looking for (deposits of GAGs in the airway can cause this), and which is great news. His oxygen saturations never drop below 90. However, he is waking more times at night than he did during his last sleep study. If accuracy was 100%, these results would give us some useful information, but because Trey is expected to sleep in a strange place, with strange sounds, with wires hooked up to his body and additional wires trying to be placed on him while he is sleeping, Dr. Stockler cannot tell us definitively what is causing these sleep disturbances. What all this means is that at this point, there is nothing to be concerned about.
I also have news from the complex upper limb consult we went to a couple of weeks ago. It was very interesting. On a scale of 0-10, if zero is no carpal tunnel syndrome and 10 is severe, Trey is about a six or a seven. According to the doctors we saw, protocol is to recommend surgery for any nerve compression at all. The reason for this is because it is not known at what point the nerve compression will cause permanent damage. We are waiting for a surgery date, which will likely be sometime in the spring. Knowing that permanent damage could have already happened or could be happening as we speak, I would like to have the surgery now, but because plastic surgeries aren’t a priority, they do not get as much OR time as other departments, and as a result, we have to wait. All the doctors I’ve spoken to about this tell me there’s no rush, but it’s hard to be patient knowing that the longer he has carpal tunnel, the greater chances of nerve damage being permanent.
An interesting and useful bit of information I learned from Dr. Stockler today, which I have been wondering about since we were given our surprise (sooner) cardiology appointment as well as the carpal tunnel syndrome diagnosis, is why this is happening in Trey’s body while he is on Enzyme Replacement Therapy. Dr. Stockler said that Trey’s heart valves are made of the same tissue as the tissue in his carpal tunnel. These tissues do not receive as much blood (and therefore do not receive as much enzyme) as other parts of the body that respond quickly and well to ERT, so this is why they are not as responsive to the treatment.
Dr. Stockler also showed me a chart of where Trey’s urinary GAGs (build up caused by MPS) have been since he started ERT. Until he started his third vial in July/08, his numbers were up and down. They were much lower than before he started treatment, but they were not consistent. Since July, we have tested his urine weekly, and his GAG levels are quite low. They are still slightly above normal levels, but they are quite low and consistently there. That is great news.
Other awesome news is about Dr. Lorne Clarke’s biomarker research. To be honest, I don’t fully understand it all, but Dr. Clarke’s lab takes Trey’s blood and uses it to try and figure out the course and severity of Trey’s disease. Trey’s levels are very low. They are not normal, but they are very close. Compared to other kids around the world who are close to Trey in age and have been on treatment for a comparable amount of time, Trey’s levels are low. What does this mean? That compared to these other kids his age, his disease is not as severe.
And for one more bit of great news, the MPS II Fund within the Canadian MPS Society has enough money this coming year to fund its own $50,000 research grant! RFA’s will go out this month and the deadline is in mid-February. Have a great weekend!!


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