Well the day we have all been anxious for finally came and went. We made the trek to Iowa City for the second time so far in our quest for answers. We met with the Neuromuscular Dr. again and went through all the questions. The good news is Corbin isn't as far behind as he was last time we were there (3 months ago). This means he is improving and getting closer to the average of his peers. The Dr. once again examined Corbin and his muscles and stated once again that his muscles don't appear weak at all. The tightness or increased tone in his legs and ankles has improved (thank you therapy and all the home/daycare exercises!!).
So we are all in agreement that our goal for the appointment was to go through the tests that we feel may help us determine the cause of his delayed development along with the elevated CK levels. We did lots of lab work - they had to calculate it out to make sure they weren't taking too much. The blood tests were for a comprehensive metabolic panel, CMA (chromosomal microarray analysis), Chromosome analysis, and a couple others that I can't remember. The urine test wasn't much fun due to the fact they put the urine bag on him when we got there and requested we gave him plenty of fluids. We did as instructed and by the time they came to take it off, he had overflowed the bag and his diaper was full. Thankfully there was enough in the bag that didn't leak out they could still run the test. It was also determined that we would do an EKG and an Echocardiogram to ensure his heart wasn't the muscle causing the elevated levels.
Before we had left the hospital we had the metabolic panels results back and several were abnormal. We are waiting for a call to explain further. The EKG and Echo looked great. The ones we are all waiting (the CMA and chromosome) will take at least 10 days to get back. The Dr. was explaining to us that the CMA is one of the highest yielding tests available (the percentage of results that give a diagnosis). This was exciting news. He then proceeding to tell us that the highest yield he was speaking of is relative. The actual yield for this particular test is only 10-15%. Which means in 85-90% of cases, the diagnosis still isn't clear after the results are back.
I am a "realist" and Jon is an "optimist". By this I mean, I am constantly considering worst case scenario so that I am prepared. Jon is constantly considering the best possible option (sometimes maybe the naive version as well). The Dr. believes Corbin is going to lie somewhere between us. Not as bad as I think, but not as perfect as Jon thinks. We don't have to go back for 9 months unless something changes. All the results and discussions can be done via phone (whoohoo!). He assured us that we are doing everything right for our little man. The extra time being spent working with him, the hours of therapy, and the prayers are working. While we can't change his levels, we can keep working for progress. We can keep pushing and motivating him. We are both guilt ridden and believing it is our own personal fault that he is going through all this. Whether it is or not is almost irrelevant, but it helped hearing from a professional that we are doing everything we can right now, and he can see the progress in a few short months.
He was napping when they came in the room to do his EKG, and he slept through her hooking him all up!
All done and headed home. He was asleep before we even got out of the hospital. He slept from Iowa City to Stuart!
We ended up going to Iowa City the night before his appointment to cut down on total driving time in one day. He was soo excited when we got there. It was hilarious. :)
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