My daughter is now 15 and at the age of 13 she came home one day and was unable to urinate.We took her to the Drs and they admitted her for testing.At first they were thinking MS and after 4 days of test they sent us home with a follow up for urology and straight cathing every 4 hours.As the weeks went on she developed other symptoms.At first she had an upset stomache after every meal and then began to have a decreased appeitite.She was dizzy when she stood.After 3 weeks she was back in the hospital running more test because she could no longer eat or drink.After a gasteric emptying study they found she had gastropheresis.She went on TPA and they continued lab work and MRI 's and cat scans and a tilt table test.They tested for every type of exposure and they were all neg.Psychology got involved and they felt this was not issue for them.My daughter became gravely ill and wound up in the ICU.At this time she could not sleep ,was in pain,still on TPA unable to sit or stand on her own and was having these tremors which the doctors could not explain also she was photophobic.They started high dose steroids and they did not help.They then decided to do plasma pheresis and move her to Boston Childrens. After 5 days of the plasma exchange and 3 days of IVIG she made a recovery but still had urinary retention hot flahes and headaches.This happen again 4months later and we started with a five day course of IVIG and she had a bad reaction and it did not stop the process, she did another 5 day plasma exchange.Again 4months later and 3 months after that and only exchanged plasma those times.She is now on an every 3 week 1 time exchange and that doesnt seem to be her answer either.My big Question is could this be a missed or wrong diagnosis?Please excuse the poor medical spelling.
Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with your doctor.
Without the ability to examine your daughter and obtain a history, I can not tell you what the exact cause of her symptoms is. However I will try to provide you with some useful information.
The autonomic nervous system is the part of the nervous system that regulates blood pressure, heart rate, function of the bowel and bladder, and other functions. As you mention, your daughter seems to have had involvement of this system, with urinary retention, what sounds like postural light-headedness, and other symptoms. To further document the exact nature of her dizziness, a tilt table testing could be done, which tests heart and blood pressure responses to changes in posture. Other tests used to assess the autonomic nervous system includes tests of sweating and sometimes skin biopsy as a measure of the small fibers of the body. Testing of the peripheral nervous system (the arms and legs) to assess whether or not there is involvement in those nerves (what is called peripheral neuropathy) too can help in further establishing a diagnosis; this is done with a test called EMG/NCS which tests how nerves conduct electricity and how the muscles respond.
There are many causes for this disorder. One of them is autoimmune, as you mention, and some of the antibodies leading to this disorder can be tested for with specific blood tests. Another type is paraneoplastic: occuring due to antibody formation in the setting of specific types of cancer. The latter two types are treated with immune therapies such as those you mentioned above, though in the paraneoplastic form, the cancer obviously has to be treated as well. However, there are yet several other disorders leading to autonomic neuropathy, such as disorders of protein metabolism (one of which is amyloidosis, though in a 15 year old this is exceedingly rare), some other genetic and metabolic disorders, in addition to there being an idiopathic form (one in which an identifiable cause is not present).
It sounds like your daughter has received care in an excellent center (Boston childrens); if further evaluation is desired, evaluation by a neuromuscular specialist with an interest in autonomic disorders would be most appropriate.
Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck.
Thank You for your reply.My daughter has had 3 or 4 tilt table test with different results in each,she has also had 2 EMG test .Her Dr is now currently deciding if biopsy would be helpful.I did forget to mention that The hospital in which we are most involved in is Albany Medical Center and the team of Drs seem to have looked and tested everything they could think of. We did not only seek help at BCH we also made a trip to the Mayo Clinic in Minn.Unfortunately we did not get any more information in how to maintain her health and avoid these "outbreaks".We are now deciding if an immune suppression would be helpful.I was hoping there was some research out there that might be useful.Oh and I forget again to mention that we see a mood change in her before she has any of her symptoms each of the 4 times,and she also has a hard time falling asleep .
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