My 10 year old son has had symptoms of dysautonomia for the past six months. Right now, his neurologist's diagnosis is "unspecified disorder of the autonomic nervous system". While his doctor suspects dysautonomia and Hischsprung's disease, he still doesn't have any cold, hard proof. So far, all of the tests have come back normal, with the exception of an MRI that showed megacolon. He has had four MRIs (brain, cervical, thoracic, lumbar) and his neurologist suspects Hirshsprung's disease so he is about to go for some tests to determine whether or not he has Hirschsprung's, his GI feels it's unlikely.

He has also had two evoked potentials (VER was abnormal, but OCT performed by nuero opthamologist was normal) two EEGs (normal) ANSAR test (normal), and four rounds of bloodwork (normal). He is going for a tilt table test this friday and an abdominal CT scan the following week. We tried to bring him for the abdominal CT scan yesterday, but he couldn't tolerate the barium and vomited, so he will have to be admitted to the hospital so they can administer the barium using a G-tube. He has been to the ER three times in the past month, but they release him every time because once the symptoms subside, he seems fine. They tell me the the ER isn't the right place to treat the symptoms and because he appears to be healthy and normal once the symptoms subside, so they see no reason to admit him.

His symptoms are weakness in legs, pain/tenderness in upper back and ankles, burning sensation in body that spreads to the head, causing a severe headache with visual disturbance (seeing flashing lights/grey spots in his field of vision that lasts 15-20 minutes), fatigue, severe constipation (being treated by GI with Miralax). The burning/migraine symptoms come and go, the burning sensation/migraines tend to happen in the early evening and last anywhere from 1-4 hours, then slowly subside. After these episodes, he is exhausted. Some mornings he is so weak that I have to help him out of the bed.

His quality of life has been disrupted by this problem, he hasn't been to school since March, he is being tutored at home, he's been wearing pull-ups diapers after a bout of bowel incontinence and because of the Miralax, when he has to have a bowel movement, if he doesn't make it to the bathroom in 10 seconds or less, he has an "accident" so he doesn't feel comfortable wearing regular boxer shorts anymore. He has already asked me if he is going to die, and I assured him that he is not, he has the best doctors and they are going to figure out what's going on with him and treat him until he feels better again.

His neurologist is sending him for a tilt-table test which is scheduled for this friday and some more bloodwork for porphyria (neuro says the porphyria is a longshot, but he's running out of ideas). Needless to say, I am at my wit's end and worrying myself into a frenzy because of this. Not knowing what the problem is is scarier than a firm diagnosis, even if it's something awful, I would prefer to know what it is.

I am wondering if anyone else has been down this road? In other words, has anyone else experienced similar symptoms and had all tests come back normal, normal, normal? SOMETHING is definitely wrong with my child, although we're not any closer to knowing what that something is, any advice/suggestions would be appreciated.