kkrylee

My daughter and son both have POTS as well as many other issues. Both started with puberty and daughter's improved dramatically at age 25 (my son is 15 now). I have always had a theory that may sound crazy but the theory involves the hypothalamus and the enlarged pituitary gland. With puberty, the pituitary gland generally becomes larger and may be larger until age around the mid 20's. My daughter's pituitary was always "large and globular" on MRI's throughout her teens. My theory is that the enlargement of the pituitary takes up more space in the brain which could put pressure on the hypothalamus making the hypothalamus not work properly. This would explain why POTS begins at puberty and with many patients ends or improves when someone reaches their mid 20's. Sounds crazy but I think this theory could have merit.

Yes, she does get the butterfly rash and rash on upper chest with just a few minutes in the sun. But she is not on Beta Blockers. Only Mestinon which is different than Beta Blockers. The odd thing is that she NEVER got sunburned before her illness began 5 yrs ago and her skin tone was olive which became very dark in the summer with no sunburning. Since her illness she has extrremely pale skin (almost gray at times) and does not get sunburnt but does get the facial rash (butterfly fashion) and the chest rash and the severe autonomic symptoms with sun exposure. She also has difficulty withher eyes when in rooms with lots of artificial lighting. That all sounds like porphyria or lupus, but again the test are negative for these. She loves beauty pageants and even after a spray on tan at maximum strength, she still has the whitest skin of all the girls on stage. Doctors don't think that her skin tone is significant to her illness but it seems to me that the tie in should mean something. Thanks for you input Summer. I appreciate any help since we all know the doctors can't take the time needed to delve into these issues. Anyone else with sun exposure issues?

18 yr old with POTS and Autonomic Neuropathy has every symptom listed for Dysautonomia PLUS: she not only has heat intolerance but has very strong symptoms from sun exposure. After only 5 mins in the sun, she develops a vibrant rash on face and upper chest and for the next day has extreme disabling autonomic symptoms. I know that Porphyria and Lupus can cause this type of reaction but she has repeatedly been tested for both of these and test are negative. Is this a autonomic problem or something else? Anyone else have this experience?

My daughter started with symptoms at 13 yrs, at 16 symptoms became severe. Now 18 and diagnoses with POTS and Autonomic Neuropathy 1 yr ago. My question is that all research shows that Autonomic Neuropathy is a symptom of another illness, mainly Diabetes or Auto-Immune or Tumor such as Pheochromotoma. But what if all of those have been ruled out? She has been tested several times for Diabetes with Negative results. She was tested for Pheochromotoma and Mastocytosis, both Negative results. ANA has been done 3 times, Negative. Other testing for autoimmune has been done, also negative. Like you guys, she as a 2" binder with test results that are all basically normal except for the autonomic testing. MRI's and Hormone levels are all fine also. So we are left with Autonomic Neuropathy that is getting worse each month but since we have no cause for the Autonomic Neuropathy, we can't try to stop it. Does anyone have Autonomic Neuropathy caused by something other than the usual suspects listed above? Her most recent episodes, other than every symptom listed for Dysautonomia, have been episodes of muscle twitching (tongue, eyes, and back) with worse than normal vision issues, nausea and dizziness lasting less than an 1 hr. I can't get a doctor to tell me what to expect 2 yrs from now if nothing is done. Her meds now include Mestinon for BP and Robinul for nausea. She is trying to finish 1st yr of college majoring in Neuroscience with the hope of helping Autonomic Disorders in Children.

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.

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.

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

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.

My daughter was 13 when the severe symptoms started. It took 5 years and lots of research on my part to finally get her to an Autonomic clinic 8 hrs away to get the Dysautonomia and Autonomic Neuropathy diagnosis. We still do not know the cause of the Dysautomia and Autonomia Neuropathy. The approx. 15 different specialists that were within a 80 mile radius could not diagnose her. These areas included teaching hospitals and children's hospitals. We are 30 miles north of New Orleans. A couple of Neurologists guessed at Dysautonomia but said they did not know enough about it to test or treat her. kkrylee

When her symptoms are put it, the first possibilities are MS, Lupus, Chiari Malformation. The doctors ruled out MS because she has no brain lesions. Some doctors think that it is autoimmune, due to heavy family history with autoimmune disease, but her ANA was negative so they say cannot be autoimmune. AS far as lupus, they say no, but I think that is still a possibilty. As far as Chiari, one Chiari specialist thinks that it could be borderline Chiari (however he only viewed her MRI's, did not see her in person). She also has an enlarged globular shaped pituitary gland but there is no sign of a tumor on the MRI and she does not have hormone imbalances. One Pituitary specialist said that we cannot completely rule that out yet. We would have to wait a couple of yrs to see if there is growth. She also has breast fibroadenomas that were biopsied and show no signs of cancer. She has mild spina bifida occulta that does not seem to cause any symptoms. And she has hyper flexible joints, probably Ehlers Danlos. She also has the flushing on exactly 1/2 of her face, Harlequin Syndrome. But her symptoms most closely match Chiari or Autonomic disorder. Last yr in school she missed lots of school. This yr as a senior, she only goes half a day so she can come home and nap keeping her GPA at 3.8. She plans on becoming a Pediatric Neurologist. One Neurologist said that she could make it through college but not medical school unless we get her fixed. She has seen a total of about 15 specialists in the last yr and a half. She has about 30 pages of testing that has been done on her. None of the doctors have been able to treat her or know anything about dysautonomia. When her symptoms are extreme, she can do nothing. But when not, she is constantly on the go with her Church and her dance. She has been dancing since she was 2 yrs old. Dance is what gives her purpose and the will to push on. Just like most with these not well-known diseases, it has been frustrating and painful, often feeling like we know more than the doctors. I have studied everything possible in the last yr and a half and should be almost ready for med school (ha).

All of my daughter's symptoms began at age 13 with vision blackouts. Then at 16, she had an episode with temporary peripheral vision loss, dilated pupils that would not constrict, and a headache pressure at the base of her skull. It has now been 16 mos since that episode and the headache pressure has never left her. It is 24/7. She has other headaches more like migraines that come and go in addition to this headache pressure that is constant. Unfortunately, we have no answers. She is still not definitively diagnosed, but it is assumed that she has an autonomic dysfunction. No one in our state (Louisiana) is knowledgable in autonomic disorders nor does anyone in La do autonomic testing. I am trying to get her to see someone for this out of state.

My daughter has the 1 sided flushing also. It happened once when she was getting a blood patch after a spinal tap and the Dr. pointed out that he could draw a line down the center of her face, with one side bright red and the other side normal. He was the one doing the spinal so he did not know why it was happening but he was fascinated by it. It has happened to her numerous times. I researched and found that this is called Harlequin Syndrome. She has not been officially diagnosed yet, but the general concensus of her doctors is that she has an autonomic disorder with mitral valve prolapse and orthostatic hypotension. I do think that she has Ehler's Danlos too. She does not have the stretchy skin but does have the hypermobile joints. (She can stand up and turn both of her feet backwards, with heels in front and toes at back).

My daughter's problems started at 13 with vision blackouts. The 1st one lasted 10 mins. Since then 15-20 x's a day she has a total loss of vision for 30 seconds. She does have mitral valve prolapse & orthostatic hypotension. Her vision problems are worsening weekly, she is now 17, with frequent loss of peripheral vision for as much as 30 mins at a time, frequent spots or lights in vision, and the total vision loss is still 15-20 x's a day but the episodes are lasting longer. The opthamologist said that she has no eye probems except for being near sighted. She wears glasses for that. No one has yet to give her an "official" dysautonomia diagnosis as no one in Louisiana is knowledgable in this field. We are now trying to get her to Dallas to an autonomic testing center. Her doctors here are stating that they believe it is an autonomic disorder but they don't know what to do. Her symptoms, like most of you, fill pages. She has 96% of the symptoms listed for dysautonomia. With the worst being a headache pressure at the base of her skull 24/7 for 1 1/2 yrs now, constant nausea, serious vision problems, fatigue, gastro problems, possible migraines, balance issues, etc. She cannot get through a full day without a nap. This is a 17 yr old who was born extremely hyperactive. She is not on medication because we have not yet been able to find a doctor knowlegable enough to treat her. Other neurologists have tried anti depressants and migraine medication. Neither have had any affect on her symptoms.

Thank you Anna for that information. I tried to find the post that you were referring to but I could not find it. I did research Pheochomocytoma and everything that I found states that patient will definitely have hypertension. My daughter has hypotension. She never gets hypertension. But I definitely appreciate your input. I know that her diagnosis will come from someone who can lead us in the right direction. So I do want every lead that I can follow up on.

Thank you Melissa, I am very grateful for the internet. The doctors give no info at all. If blood is not seen shooting out of a vein or a bone is sticking out of your leg, you must be depressed. One doctor at Children's hospital, after hearing that one of her symptoms was constant nausea, immediately decided that she was a teen so she must be pregnant. If that had been the case, I would be a grandmother, because it has been 9 months since these symptoms became severe. This 17 yr old has not had a real date yet or a boyfriend. Without others to share with, it would really be frightening. We are in Louisiana just outside of N.O. I was not able to find any doctor for dysautonomia anywhere near us. I will do anything for my daughter's health but we can't get to a point that justifies what type of specialists we really need. She still could have Chiari 0, it could still be a pituitary tumor, she also has some symptoms of Ehlers Danlos, and we know she has the OH. She had a positive Babinski reponse once but did not have it the next visit when the neuro tested. Her pituitary is a large globular shape that Endo says normal for teen but MD Anderson specialist said could be tumor but MRI's not definitive. He suggested a wait and see if it grows. (I sent him her films and he was good enough to review them). My husband is and has been disabled for 15 years and I am a Realtor. I think that if anyone listens to the news they know that our financial situation is quite desparate. So without feeling confident that traveling would give us the answer, I'm hesitant. We have seen so many specialists at Children's teaching hospitals plus others and we walk in with high hopes that this doctor will get the answer right. They spend 5 minutes with us and forward us to someone else. Obviously some have ordered testing, but if there is not a major red flag from the test, they send us on to someone else. We have an appointment with a new Pediatric Neurologist coming up and I just don't know if we should even go. It is a $60 copay and a 1 hour drive and if this visit is the same as the rest, I am going to want to scream at someone. I know that you can hear my frustration and that you understand. I am grateful for this contact that allows us to share in our frustration and worries. Thank you