child with "unspecified disorder of autonomic nervous system"
 

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.

Welcome to NeuroTalk:

Sometimes the answer is something that doctors really don't understand, yet today.

http://www.youtube.com/watch?v=BvEiz...ature=youtu.be

This new video shows real people who have serious issues, all stemming from low B12 levels. One is child. One is a doctor who almost died.

If your son had B12 testing and it was "normal"... be advised that old lab ranges still report 200pg/ml as "normal" when it is really severely low. 400pg/ml is now the real acceptable level to be low normal. So each patient needs to double check this on their own.

If your son has not had methylation testing to see if he has the DNA methylation error called MTHFR, then he has not been completely evaluated. 10-30% of US population have this error, which blocks proper use of B12 and folic acid. (they cannot be activated in the body called methylated).

This is just a basic starting point. Degeneration of nerves can occur with low B12 levels. So you need to look at that more closely. 10 is pretty young for autonomic neuropathy. We have some patients here on our PN forum. So please do visit.
http://neurotalk.psychcentral.com/forum20.html

10 year old with difficult diagnosis
 

Thanks for the welcome and the reply MrsD, I will definitely share this info with his neurologist and GI. His B12 test was "normal" but i was not aware of the new "normal" and I am not sure if his neuro is aware of it (I have to admit the word "normal" is starting to drive me up a wall because I'm absolutely sure that there is something ABNORMAL going on with my child!) I will also mention the methylation testing and see what he thinks about that. I'm a little leary of making suggestions to the doctor because I feel intimidated, but I'm getting a little more outspoken in that arena as my son's health continues to go downhill.

Because of the (possible) digestive problems I'm concerned about the possiblility that his body is not properly utilizing/absorbling the vitamins/minerals from the food he eats, and he is a picky eater who refuses to eat nutritious foods, so I'm relying on multivitamins and nutrition drinks to get some nutrition into his system.

Once again, thanks for the speedy reply, I will take all of this into consideration, I just hope his doctors will do the same.

-Sally

You can get the methylation testing at 23andme.com for $99 (no insurance)... They have a pretty good DNA screening now for various genetic errors.

https://www.23andme.com/
This bypasses the doctor completely.

Also to look into since there are significant GI issues is gluten intolerance and celiac.

Here is an excellent website with many medical papers on this subject:
https://sites.google.com/site/jccglutenfree/
The Gluten File is also on Facebook.

Gluten intolerance is a different animal from Celiac. Not always genetic markers, etc. All is explained at the The Gluten File.
But it can lead to malabsorption of nutrients, which then cause
deterioration of various bodily functions.

I asked his neurologist about gluten intolerence (a few other folks have mentioned it to me along the way) and he just sort of shrugged it off... I guess it couldn't hurt to try a gluten-free diet (I wish my child wasn't such a picky eater, it would make it so much easier!) I have a sneaking suspicion that the digestive issues, whatever they may be, are playing a major role in the neurological symptoms, its just a matter of figuring out what they are and how to treat them, thanks again for your advice, I'm making a note of all of it to bring along with me when we go to the next appointment.

Hi sallymanda,

Hirschsprung's disease is a congenital illness. The average age of diagnosis is 4 years and younger. For reason which are unknown there are no nerves in the affected section of intestines. This disease does not cause Neurological problems.

Information about Hirschsprung's Disease:
http://www.lpch.org/DiseaseHealthInf.../hirschpr.html

Best wishes to you and your son.

Thanks for the info...I mentioned this to his neuro after doing some research online and because my son's GI made me aware of it. Neuro insisted that it's not outside the realm of possibility that he could have Hirschsprung's and that his wife is a pediatrician, etc etc. I have a strong feeling he is mistaken. I am going to contact a pediatric neurologist tomorrow and schedule an appointment asap, it couldn't hurt to get a second opinion and I don't want to wait for my son's health to get any worse than it already is.

He had another episode of muscle weakness last night, unable to sit up or move his arms/legs, along with the sensation of heat in his body/visual disturbance, etc. I am beginning to wonder if these "attacks" aren't transient ischemic attacks? I know I'm grasping at straws here, all of the research I've been doing online is driving me up the wall, there are so many possibilities and as I watch his health continue to take a turn for the worst, I can't just stand by and watch him continue to go downhill without reaching out for another opinion. I also need some support/advice from others who have already been through similar situations, which is why I started posting here.

Thanks again.

A pediatric Neurologist is probably a good idea.

Am I to understand you do not believe your son has Hirschsprung's disease?

I had surgery for Hirschsprung's disease when I was 2 years old, diagnosed at 18 months. This was about 50 years ago.

Hi there,
I'm sorry your son is having such an awful time. I don't want to muddy the water but I just read your original message and some of those symptoms can accompany certain types of migraine in some people. The constipation maybe is another issue altogether. I'm glad you are getting another opinion. Please let us know how you get on and how your son is doing.

Although he has some symptoms of hirschsprung's (severe consitipation that is only relieved with a daily dose of Miralax and megacolon revealed on MRI) his gastroenterologist doesn't think he has it because he is 10 years old and is having regular bowel movements again. His neuro insists that its still a possibility and doesn't want to rule it out until he is absolutely sure.

I will be scheduling an appointment with a pediatric neurologist tomorrow. I feel a little guilty about it, since his regular neuro has tried his best, but because he specializes in MS and Parkinson's and is not a pediatric neuro, I still feel as if he is missing something and perhaps a pediatric neurologist will be able to figure it out.

I'm also afraid that the episodes of muscle weakness that are affecting his arms and legs will eventually affect his ability to breathe during one of these episodes. They happen out of nowhere, they're unpredictable and for the life of me, I can't figure out what is setting them off. They also seem to happen between the hours of 7-11pm, when we're lying in bed and settling down for the night. I'm wondering if lying flat could have something to do with these attacks, which is probably why the neuro has scheduled him for a tilt table test, but I know that the child won't be able to stand for the 45 minutes necessary to complete the test and since he is not having fainting episodes and his ANSAR test was normal, I really don't understand why he ordered the test in the first place.

He is fine 90% of the time, you would never know that the child is suffering with any type of illness, but when the episodes come on, he is bedridden for anywhere between several hours to a day or two. These episodes of weakness/burning in his body and head/visual disturbances started on May 1st and have happened at least 7 times since then. When I brought him to the neurologist back in March, he was only having back pain and mild weakness in his legs, thats when the neuro gave him a diagnosis of "unspecified disorder of autonomic nervous system" so whatever it is, it seems to be progressing rapidly and I am afraid that he will die during one of these attacks.

So far, his neurologist doesn't think it's necessary to have him admitted to a hospital. I understand why he feels that way, because he is only seeing him in between episodes, when he appears to be healthy and happy, but I totally disagree, because if he were to have some of these tests and his vitals were being monitored while in the midst of an attack in a hospital, I'm pretty sure the test results would show SOMETHING.

I'm trying to reassure my son (and myself) that he will be ok and that the doctors will figure out what is going on with him and start treating him, but I'm beginning to think it's going to have to get worse before it gets better.
That's what is scaring the hell out of me. I don't want to lose my son and I don't want his diagnosis to be made during an autopsy.

I am petrified. I hope and pray that a pediatric neurologist will be able to get to the bottom of this. I don't know how much more of this I can take with no answers one way or the other. I am exhausted.