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Doctors don't know what's wrong with my child: update from appt

Posted by on Apr. 24, 2013 at 5:23 PM
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7 moms liked this

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.

by on Apr. 24, 2013 at 5:23 PM
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Replies (1-10):
by on Apr. 24, 2013 at 5:25 PM
Bump :(
by Ruby Member on Apr. 24, 2013 at 5:27 PM
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Besides getting him an aide I don't know how to help him at school. Good luck!!

by on Apr. 24, 2013 at 5:28 PM
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Hello! First, I am so sorry that you and your son are having to deal with this. Not knowing is very hard, especially when it comes to your child. 

Have the doctor's tested him for Muscular Dystrophy? 

by Anonymous 1 on Apr. 24, 2013 at 5:29 PM
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Sorry you're dealing with this. I would do exactly what you're doing. Post about it online and someone may know of a rare (or common) disease that causes this and you can take the idea to your doc and start testing that way. Obviously, the first step is going to the doc, but it sounds like you're doing that. I brought up the idea of Crohn's to my doc after searching online and he said it fit and ordered the tests (scope/biopsies) to confirm it. The WWW is full of knowledge! Just take it with a grain of salt and don't try to diagnose him yourself. Use it to get ideas to run by the specialists.

by Silver Member on Apr. 24, 2013 at 5:29 PM
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Physical therapy? Maybe it will help strengthen his legs?
by on Apr. 24, 2013 at 5:32 PM
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He hasn't been put in any sort of PT? Did he have a hard time with motor skills as a baby?

Poor baby I hope they find out what's wrong with him. That is mortifying. Hope he recovers from the fall quickly.

by on Apr. 24, 2013 at 5:32 PM


by Gold Member on Apr. 24, 2013 at 5:34 PM
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My son has had the same problems with his leg and he is also autistic. No one can figure out what is wrong. We live in a two story house and it had gotten so bad that he couldn't go up the stairs at all. We put him in the shopping cart when we go out because he can't walk very long before his legs start hurting and get "too tired" (those are his words).

We went to an orthopedic specialist, physical therapist, and several other doctors. His neurologist and pediatric doctor both have run several blood test and x-rays and nothing ever shows up. He does have low muscle tone so we know that, that is part of the problem.

We have been dealing with this for almost three years and we still don't have answers. His therapist suggested insoles for his shoes so we met with a doctor to have them made. She made it so there is a slope of the insert. It is sort of like wearing high-heel shoes all the time for him. They have helped. He went from having problems every day to just 2 days a week.

I hope you can find something to help your little one. I know how sad it is to watch your little one be in pain and you can't do anything to help them.


by Anonymous 2 on Apr. 24, 2013 at 5:34 PM
My brother has the same problem. His started when he was 2 he is now 17 and we still dont know. Its very scary. Im very sorry. Not trying to scare you. Really im not
by on Apr. 24, 2013 at 5:34 PM
I am very sorry. I hope they are able to shed light on this soon.
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