Sunday, March 29, 2009

Trip to Philly...

Andrew’s doctor appointment in Philadelphia was very long but informative. His appointment was at 10am and we didn’t leave the hospital until 5pm. We still love this doctor. He is so good with Andrew and he seems to really care about him. It gives me great comfort in knowing that we finally found a doctor who we feel is the most qualified to help us out.
I will try to summarize this appointment as quick as I can but there is a lot of information to tell. The nurse came in and caught up on getting any new information and any new concerns we may have. We talked about getting Andrew a wheelchair (based on schools suggestion) and the answer was NO. If you put him in a chair now, he would think it’s a toy and never want to get out of it. He needs to use his muscles now! We were relived to here that as we were not ready to start that process yet.
We then saw the nutritionist and she said we were doing everything good. He was eating the right about of calories, protein and fluids! That was good to here! We were concerned about how Andrew sometimes fatigues while is eats and seems to gag/choke. She suggested we have a swallow study done and see if its texture related or there is an actual problem. She did say that he would probably have a harder time with liquids instead of solids if it was muscle related because you use more muscles to swallow liquids than solids. Totally opposite that what you may think.
Then Dr. F came in after reviewing the case with the others. He said when we came down for his first visit, he heard our concerns about possibly something else going on but wanted to see his development progress for himself. He described to us that there is a range of DMD boys. Some are not too affected, some are average and some are severely affected. That first visit he would have put Andrew in that severely affected category with nothing else going on but it didn’t escape his mind that there could have been something else going on. Our second trip down, he said that he would still keep him in that severe category but the more he looked at his weakness he was really wondering if something else was going on but wasn’t quite sure. This trip down, he came in and said, “There is something else”. Andrew doesn’t move like a DMD boy, although he is very weak and his body is tired all the time. The dr. also noticed Andrew lying on the floor instead of sitting and resting his head on his arm instead of holding it up. He also said that if we came in without having a diagnosis of DMD, he wouldn’t think to test for that.
The doctor is also concerned about his growth. Andrew keeps getting further and further off the chart in the downward motion. He is extremely short and now the doctor is trying to focus on “the other unknown.”
We had x-rays done of his hip, pelvis, hand and spine. They want to see if there are some abnormalities with is bones. They are concerned on how he folds his hands and wrists up and is always fisted. They also are doing a urine test. They are testing for MPS or Mucopolysaccharides diseases. I haven’t read up to much on these because what I saw was too scary but it has something to do with how your body handles certain enzymes. It seems to affect liver and spleen. It’s very rare. They are also doing a DNA slide, which was a blood test, and that is like throwing out a fishing net and seeing what we catch. It’s pretty scary not knowing what they are going to find if anything. The x-rays and urine test we should know about this week and the DNA slide will take about 6-8weeks on average.
The PT came in and agreed with the dr. about NOT getting a wheelchair at this time. She wants Andrew in pool therapy all the time rather than half land and half pool. We will keep him on the steroids for now until we find out these test results.
Please keep Andrew and us in your prayers.

Sunday, March 1, 2009

2009 Vermont Goodwill Ambassador!

Our little man was selected to be the MDA's Vermont Goodwill Ambassador!!

Andrew's testing results...

Here is the latest on the ongoing medical confusion....
EEG.....He had an EEG done to monitor his staring spells he has. The problem...the EEG only lasted 43 minutes. The chances that the EEG would catch one of the the staring episodes in that time frame was extremely rare. Of course the Dr. here (the one we don't care for at all) said that it was normal but that unless it caught the actual episode it would show normal. So I asked about doing a longer one and he denied the test and said UNLESS there is ongoing concern he is happy with the results. School has been continuously concerned of these episodes so I might have to have them write a letter or something. Apparently a parents concern is not enough for this doctor.
SLEEP STUDY...That was a long night! But they ended up doing an entire EEG for the entire night. We should get the results on this Friday. We are glad they did a full EEG with the sleep study (they normally don't) but because he has these episodes when he is awake we are unsure on how and what the EEG will show. I will update about this on Friday.
MUSCLE TESTING...All I can say is frustration!!!!! When Andrew originally had his muscle biopsy, which was in the Spring of 2006, we were told that they took enough muscle so if any other testing had to be done, there would be some frozen at the lab. Well Dr. F, in Philly (who we really like!) requested to original muscles slides. He wanted to make sure these slides were consistent with DMD. He contacted me and said the are consistent with DMD but he wanted to do some more testing so he wanted me to request the muscle from the lab and have it sent. I contacted the lab and a week later they got back to me and said there was no muscle left. They used ALL the muscle during the original test!!!! So now we are left with doing another biopsy. We are very much undecided if we are going to do this or not. We go back down to Philly at the end of March so we will talk with Dr.F then about it.

If you are still reading, thanks for hanging in there and also thanks for your continuing support!