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.
5 weeks ago