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 testing 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 and 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, 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 schedued 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.
My son has a very similar story, not all the same symptoms though. He started getting sick at 10 years old, he is now 18. It took us 3.5 years to get a correct diagnosis, autonomic dysfunction/POTS.
When my son's legs were too weak to carry him, he called them licorice legs. He also had the migraines, GI issues...severely constipated, plus abdominal pain. He used to frequently vomit, be he has learned to control that. He is still nauseated 24/7.
My advise is to not give up finding a doctor to help your son. I did a lot of internet research and emailed doctors when I found their email address. Through emailing I was able to get into the Mayo Clinic pediatric diagnostician who bumped us up on the schedule and the wait was only 3 months instead of 15 months. We have traveled to Cleveland, Mayo in MN and his current doctor is in South Carolina(14 hours from our home).
Hi Christy, thanks for the response. My son is scheduled for a tilt table test tomorrow, so we'll see how that goes. Since posting my original message I've come to know that my son was having an allergic reaction to the Miralax that his GI recommended for the constipation. I took him off of it 3 days ago and his migraines/muscle spasms have practically disappeared (so far), although the weakness in legs, sensation of heat up and down his body is still going on. I am also planning to take my son to a pediatric neurologist for a second opinion, his regular neuro is very good, but he specializes in MS and Parkinson's and most of his patients are adults, so I'm hoping that a pediatric neuro will come up with some ideas or tests that his regular neuro is missing. Someone in another forum suggested an EMG and a spinal tap, (both can be painful) but I hate to have to put him through that unless it's absolutely necessary. We'll see what the pediatric neuro has to say. Thanks again for responding.
My son got his POTS diagnosis with the TTT. He got the small fiber neuropathy diagnosis with a thermoregulartory sweat test and MCAS with blood tests. He had a gastric emptying test that was positive diagnosising him with gastropareisis(sp?). Most(and there were many) other tests came back negative because it was the autonomic nervous system messed up and not the organs.
He had endoscopy, capsule endoscopy, colonoscopy, MRI with and without contrast, spinal tap, upper GI, ultrasound of abdomen, antroduodenal manometry, MRI myelogram, 30 day heart event monitor. These all came back negative. He had a full autonomic work up as well.
I keep a spreadsheet of what tests he had, the date and outcome so I can make sure tests are not duplicated and I tend to forget everything he has had done. Also, keep a spreadsheet of all the medications they try. I found doctors wanting to prescribe something he had already tried because the list became so long, the doctor forgot we already tried it. I provide the list every time he goes to the doctor.
Hopefully your son won't have to go through all of this and they can get him figured out quickly.
Hi Christy - I brought my son for the tilt able test yesterday and he couldn't stand up for more than a couple of minutes, after 2 or 3 minutes he started sliding down the table, only the straps around his chest were holding him up. They tried putting pillows behind his legs for support, but it was useless and after about 15 minutes, they had to stop the test. During that time, they saw no major fluctuations in his BP or heart rate, so I suspect the test would have turned out to be another "normal".
Last night he was in agony with muscle spasms in his legs after trying to stand up during the TTT for that short period of time. I am beginning to doubt the possible dysautonomia diagnosis, since his ANSAR test came back normal, I'm beginning to wonder if he might have ALS, although I know its very rare for a child. I am hoping his neuro will schedule an EMG for him soon, I know its a very uncomfortable test, but maybe it will reveal something that the other tests missed.
I am trying as hard as I can to keep his records organized and I will be seeking a second opinion soon. I know his neuro is one of the best in NY, but he is not a pediatric neuro, he specializes in MS and parkinson's and I don't want to stand by and watch my child's condition getting worse as more time goes by with no firm diagnosis.
I'm glad we crossed paths here, please keep in touch and best of luck (and health!) to you and your son.
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