Doctors don't know what's wrong with my child: update from appt
He's autistic, borderline MR (tested with a score of 71) and was developmentally late for every milestone. He's 8 years old and he's my sweetheart- but, something is seriously wrong and we don't know what.
We've been watching this problem get progressively worse for about 2.5 years. It started out with him not being able to keep up with other kids his age when running, playing and exercising in general. His pedi told us this was because of his poor motor skills that causes lack of balance and frustration.
But we knew better. A year later, he began to complain that his legs were too "tired" and heavy to exercise. His teachers told us he was just being anti-social.
Now he actually falls down when walking, running or playing. He claims his legs feel too weak to support his weight and that suddenly, he can't feel them. He also says that his legs sometimes hurt or tingle. He had some muscle enzyme tests done last month but the results were only mildly elevated.
Tomorrow he goes to see an orthopedic surgeon to continue the process of finding out what's wrong. His legs completely gave out on him during recess a couple of days ago- he fell flat on his face and now his face is swollen. He has broken the roots on two molars. Now he has to have dental surgery.
We don't know how to keep him safe really, at school. And this process of diagnosing whatever is wrong seems to be taking forever.
I'm looking for ideas on how to go about finding out what is wrong in a more timely process. Also, how do we keep him safe at school?
Update: he saw the orthopedic surgeon today. It was confirmed that the problem is not orthopedic. The doctor did notice that he has hypersensitive reflexes in one leg and hardly any reflex in the other leg. He has been referred to a neuromuscular specialist at Primary Children's Hospital in Salt Lake City.
May 9th: So today he was seen and had a few tests done at PCH. Doc is pretty certain it's not MD but is concerned about dystonia. He did some lab work today and muscle tests. He asked me to specifically pay attn to the WAY he falls to see if one of his feet turns inward before a fall. We are now waiting on a callback from the hospital to schedule an MRI, spinal tap and EMG. He will be sedated for that.
Update: Well... We went to primary children's hospital and the Neuro had an idea of what is wrong: we attempted to schedule some diagnostic testing and Medicaid denied every single test. Now we're at a stalemate .
Update: 11-14-13 We put the tests off this summer because our child being under general anesthesia made my husband nervous, and the symptoms seemed to be slacking off a bit. So we just allowed him to rest a lot and hoped for progress. No progress occurred. His symptoms are back full force. Today his doctor told me he suspects an ataxia caused by lack of development in the cerebellum or a mitochondrial disorder.