Pots W/autonomic Neuropathy

[kkrylee]

I am so frustrated as so many are. My daughter started with symptoms of POTS when she wsa 13 (5 yrs ago). She finally received a dianosis of POTS and Autonomic Neuropathy a few months ago. Meds on: Mestinon (has almost stopped the 20 x's a day total vision loss but nothing else improved), Robinul for nausea (most of the time works for the constant nausea but not for the diarrhea), 1/2 baby aisprin daily, Fish oil capsules.

She has been tested for EVERYTHING! Some more than once (MRI's, MRA's, Spinal tap, more blood work that I can relate, numerous heart tests, etc.. Does not have: diabetes, cancerous tumors (phechromatoma, mastocytosis, etc), auto immune, lyme, Chiari, MS, etc.)

She does seem to have some mild form of EDS (no stretchy skin but highly flexible joints) and mild spinal biffida occulta.

She has every Dysautonomia symptom listed. They all come and go but she never has a day with no symptoms. She cannot go more than 2-3 days without bigger issues (such as diarrhea for 3 weeks straight or heaviness in arms and legs or extreme fatigue). She has heart pain with walking when shopping or walking across campus but all heart test (Cardiolite stress test & Echocardiograms) are fine except for mild Mitral Vavle Prolapse. She does get progressively worse with frequency and severity of symptoms on a monthly basis. A remission is no more than 2-3 days at a time.

NOW my reason for asking for your response:

I have finally accepted that her issues all stem from the Autonomic Neuropathy rather than individual organs that are defective. It is the message system that is the problem not the organs as all tests show her individual parts working fine except for the orthostasis and neuropathy. Everything that I read states that the only way to improve Autonomic Neuropathy and prevent the progression of these nerves dying is to treat or cure the illness that has caused it. Our problem is she has been tested for every possible cause and all were negative. Her doctor at the Autonomic clinic feels that there is no other treatment, other than the meds listed above, to help her.

SO, will she keep deteriating and having autonomic nerve loss if we don't find the underlying illness? Can anyone give any info on their situation if they have autonomic neuropathy and POTS? Are there meds that any of you are on that are for autonomic neuropathy?

As you know, each day is a new challenge and a new symptom. I just want to try to be sure that each year does not deteriate her body more and more. She is a Freshman in College with a goal of becoming a Pediatric Neurologist specializing in Autonomic disorders. She wants to be the doctor that does not say "you must be depressed" but researches and tests until a physical reason is found.

[ajw4790]

Hi,

I read your post and was thinking that this pretty much sounds like me, and that I have some answers, but not THE answer.

I too have endured the oodles of tests to only find that I am pretty healthy other than all this. Which is a lot more than most of these drs realize. I am a 25 y/o female. I had to leave grad school due to medical reasons, so I can ID with many of your daughters issues of dealing with university life and all of this. (make sure to start working with disability services early.)

I too have POTS caused by small fiber neuropathy (sensory and autonomic) and insuffcient nerve conduction to blood vessels causing pooling in legs and abdomen.

I have reached this point as well of is there anything else to do? Anything to slow or stop further issues etc??? Most drs. act like it just won't get much worse so don't worry about it. But, how can you not wonder how much more will your body fail?

I have just been put through the regimen of meds to see what sticks and what doesn't, but that only treats symptoms. Otherwise just lifestyle changes and trying to do things to offset the neuropathy. (ex. work out legs to improve blood pump back upwards and decrease pooling, but again this is just a temporary type help, and not a permanent answer)

I don't think there is much else for patients like us at the moment in time, at least from what I understand. The only thing would be to continue to look for any other one in a million obscure reasons for autonomic neuropathy...

The best "help" I have had recently is to get a detailed look of all vitamin, mineral, etc. levels and work to treat any deficiencies. Make sure they check ferratin too to look at her iron levels- many drs. miss this one. Mine got all the way down to 3 and should be at least 60. It was making me sooo much worse. Other than correcting things like this (that may even be caused by the neuropathy due to malabsorbtion etc. if the stomach/bowels are involved), I don't have many ideas.

I just wanted to say she is not alone.

Congrats to her on working towards such a great career. It is wonderful! I hope that she is able to get some relief while she is in undergrad to allow her to go to and enjoy med school. Physical therapy school was awful with this, I could not imagine med school.

I hope that helps some, or at least answers your questions. I was kinda just writing what came to mind...

Hoping that things get better for your daughter soon!

[kkrylee]

I really appreciate your response. Thankfully, we have a GP who believes in testing and does not give up easily. I am surprised that her ins has allowed as much as he has done. That being said, he tested loads of mineral, vitamin, and hormone deficiencies. Her iron levels were actually on the high side (I particularly noted this because our family has hemochromotosis which is a disease caused by too high levels of iron). He even tested unusual and rare issues, such as Porphyria.

One of her Neuro's said that unless we can get her well, she won't be able to make med school. But she has ignored that and is staying on her path until she physically can't. She has loved anything to do with the human body and mind since she was a very small child.

We notified the college of her disability the first week of class and they have listed exceptions and special accomodations for her. She also had to get a handicapped tag. She keeps trying to pretend that she is a normal college student. But, it is not working that well. She has danced for 16 yrs (since the age of 2) and for the first time ever she is having to admit that she is not enjoying dance because of the effort and pain it is causing her. This is especially sad because dance is what got her through many bad times and the good times in her life. She used it as a release for her emotions. Her favorite saying is when someone asks, "Why do you dance?', her response is "Why do you breathe."

Again, thanks. Just having someone who understands is so important. If I tell friends or family that she is having a bad day, they say "I thought that was resolved. Maybe she is just tired or has the flu." They can't relate to the fact that this is not like the flu, there one day and then gone.

Still would like to hear from others with neuropathy and if they have a cause or treatment for it, particularly the nausea/diarrhea issues.

Thanks

[ramakentesh]

Out of interest did she find that the fish oil helped? DHE reduces the sympathetic response to standing. Helpful in some patients, but in your daughter's situation it might be counterproductive.

The reason for the neuropathy in some patients is unknown - assumed autoimmune - but not proven.

[Kitsakatsa]

She needs to be tested for Shy-Draeger. If that is positive, there will be a decline of health. We have come to understand that if the test for Shy-Draeger is negative, and POTS is her diagnosis that there should not be progressive nerve loss. Major Universities can run the test. she may have had the tests already. One involves putting electrodes on extremeties and testing the response. It feels like little burnies or as my brother calls it "Jack Bauer is in the house"! The other involves having her breath in a valsalva maneuver. This is basically like blowing up a balloon and makes most POTSy's feel like crap. You may remember these tests.

Now, that said I have experienced both new nerve damage to my eyes and ears this year. I've been told that it falls in line with traditional dysautonomia- but that it too will not be progressive. Her complicating illnesses may contribute to a decline, but as far as I have read (and it has been extensive), there is no expected ongoing nerve damage with POTS and declines have been due to other illnesses, change in lifestyle (having to take a job), etc.

Be really careful with Dr. Google. My mother was all in a panic from the informal stuff that she has read. Stick to reliable sources like Pubmed.

I hope this helps. You seem to be a very caring mother.

Kitsa

[ajw4790]

I did forget to say that I am one of the people that fall into the category of being told by a dys. specialist that the neuropathy likely has an autoimmune component. But, it did not change anything, because everything is so new, that there has been so little testing.

[kkrylee]

She has only been on the fish oil (Omega 3 fish oil 500 mg) for a short time but no change good or bad yet. I and one other Neuro think that it is auto immune because my family and husband's family is riddled with various autoimmine illnesses. But the tests that have been run, more than once, including spinal tap do not show autoimmune so the doctors say that it is not.

She had the Valsalva test which was normal and the QSART nerve conduction study which showed the autonomic neuropathy at UT Southwestern Autonomic Clinic in Dallas. These tests were only done once, a few months ago, so I don't have proof that neuropathy is progressing other than her symptoms are increasing and are more frequent.

I have been concerned about the possibility of Shy-Drager. What tests would show Shy Drager other than the ones listed above. The Qsart showed the neuropathy but the valsalva breathing test was normal, no problems.

Thank you all so much for responding. I appreciate any help from actual patients who understand.

[dsdmom]

What happened when your daughter first became ill? Was it following an illness of some sort? It's very probable that an infection caused her neuropathy. If she falls into the post-viral group, most likely she won't be getting worse and hopefully over time will get better.

[kkrylee]

She has had some issues since an infant: Her face becoming really flushed, purple in color, when sucking a bottle and fevers that would pop up, 102 degrees, last a few hours and disappear without any sign of illness or infection. The doctor called them "unknown fevers". Then in 3rd grade, she started with heart palpitations and pulse racing (this was maybe 8 x's per year lasting approx. an hour). Heart monitor never recorded a problem.

Then at 13, she started getting faint and losing her vision 15 -20 x's per day every day lasting 30 secs to a minute (pre-syncopy). About 8 mos before the vision loss started she had an illness that lingered for about a month. Doctors did not determine what it was. We went to the emergency room with high fever, neck aching (but she gets this with every fever) and some vomitting. She mostly recovered in a week, but the fatigue and general feeling bad lasted a month. This was very unusual as she was extremely hyperactive since birth. Blood tests were run, but nothing significant.

At 15, the neurological symptoms began with an episode at lunch. She had extreme headache pressure at base of skull, she loss peripheral vision, and her pupils did not contract to light. Immediately went to doctor and that is when we found that she had a low blood pressure illness. The headache that started that day has never left her. It is 24/7 for 3 yrs now. As far as her symptoms since then, she has every symptom listed for Dysautonomia. Each day presents a new symptom to deal with. Most common are dizziness, nausea, fatigue, diarrhea, stomach blood pooling, leg blood pooling, swollen glands, heaviness in arms/legs, and fevers. Since she started the Mestinon she rarely loses her vision.

We saw several neuro's, endocrynologists, cardiologists, internal med dtr, eye doctor, etc.(local and at Children's Hosp and Tulane Hosp in N.O., both teaching hospitals). I have a 3" stack of paper with all of her test results. They did everything. All negative except the tilt table test, the Qsart Nerve Conduction study, and minor Mitral Valve Prolapse (which doctors keep saying is not an issue).

However, she does have a very large globlular pituitary gland that several specialists have monitored over a 2 yr period and have determined that there is no tumor. She also has breast fibroadenomas that have been biopsied and are not malignant.

She's 18 and trying to go to college but it is a challenge.

[Mary P]

I'm so sorry to read about your daughter's poor health. It makes me feel like I'm actually a healthy person. I can relate to some of what you've written and can say for certain that Mestinon gave me diarrhea, even at a very low dosage. I was quite alarmed at first so I went off the Mestinon for 2 weeks and everything returned to normal again as regards BMs. I mentioned the diarrhea to the neurologist who had prescribed the Mestinon and he was quite surprised, saying no other patient had mentioned this problem to him. So I decided to try the Mestinon again but that same day the diarrhea returned and at that point I knew that it wasn't for my system. I'm relating my experience with Mestinon in case you might want to mention it to your doctor. I'm sure I can't be the only person in the world who was effected as I was.

I should also say that I had a brain MRI to check for Shy Drager. The Neurologist had told me that SD may not show up on the MRI but that didn't mean it wasn't present. We left it at that because at that point I didn't even know what to say or ask. At any rate the MRI didn't show any sign of SD but I don't know what that's supposed to mean now.

I have moved to another city and am waiting to see another Neurologist to see what's what and hopefully get answers from him.

Wishing you and your daughter much sucess in finding all the 'right' doctors, answers and treatments that will allow her to lead a healthy life and bring you both peace of mind. Keep trying. I sometimes watch a TV program called 'Mystery Diagnosis' and most often it is the patient who, after suffering numerous years of wong diagnosis and treatments, and through prolonged and determined research, finds an answer for themselves. Not all of us can be so lucky, but don't give up. Your daughter is so very young.

Kind regards, Mary P

[dsdmom]

Mary P

YOu mention you were on a low dose of mestinon - what was the dose? It could be that you need to start even lower and build up. I take the pediatric version which is a liquid so I can do very small dose changes. I am currently almost at 24mg 3/day but I started at 10mg/day.

[Mary P]

YOu mention you were on a low dose of mestinon - what was the dose? It could be that you need to start even lower and build up. I take the pediatric version which is a liquid so I can do very small dose changes. I am currently almost at 24mg 3/day but I started at 10mg/day.

I began with only 5 mg once a day and couldn't tolerate that, so the second time around I took only 2 1/2 mg once a day but couldn't tolerate that either. It's great to hear that you're up to 24 mg/day. I hope this means you feel a lot stronger than when you began the mestinon. I'll mention the pediatric version to the new neurologist and see what he says.

Thanks for your response. Mary P

[jjb]

Hi there. I am very sorry your daughter is going through so much.

We also have the aut neuropathy dx as well as EDS.

I have dealt with the sympoms you describe all my life but wanted to mention for m I have learned to manage by avoiding my known triggers.

My daughters issues are more complex though. She had a stroke, has epilepsy and of course the dysautonomia and EDS>

She also has all of the issues you described and we are still going through testing, our next next doc will be with a mito specialist.

I wanted to mention to you that when it comes to DXing chiari in an EDS pt, it is important to go to someone that understands the relationship between chiari and EDS. When doing an MRI on an EDS pt, the the MRI should be an fMRI and the pt should be upright, NOT laying back. Since chiari can cause or worsen dysautonomi, I would strongly urge you to seek out one of the more reputable geneticists (such as Nazli McDonnel or Clair franomano) as they might suggest the MRI to be redone.

Hope this helps,

Jen