Update On Me - If You Have Pots, Sfn, Autonomic Neuropathy,

[arizona girl]

So, I told you all I'd let you know how my treatment plan has been going. It's going, not as quickly or directly as I would have liked, but in spite of setbacks there has been progress. I have sort of come full circle. So bear with me there are multiple interelated components to my diagnosis, one leading to or causing other symptoms. This is just one girls story of the long arduous path I've been down. I hope my story makes your path to treatment easier and quicker.

SFN/autonomic neuropathy

So to refresh you all and those who don't know, I was diagnosed w/pots, orthostatic hypertension/ tachycardia and syncope, by TTT and would have asystolied had test not been stopped. That led to referral to Dr. Todd Levine, AZ a neurologist who specializes in autoimmune neuromuscular diseases. He ordered the skin biopsy and other tests. The biopsy proved the small fiber autonomic neuropathy, nerve damage that were responsible for the pots/dysautonomia symptoms above. The skin biopsy test is the gold standard these days, it is an easy test. I would recommend anyone with dysautonomia symptoms have it done. If you can find a neuro in your area who knows to order this test then you have found one who can test and treat in this neurology subspecialty. This type of practice will also be treating patients that have MS, Polyneuropathies, stiff persons, etc, and they may be connected to an infusion center.

In his practice he suspects the sfn is not rare, but rarely diagnosed and usually has some sort of autoimmunity causing it. He said "The causes can be endless, so lets test for the most concerning and possible." Mine came back idiopathic, with suspicion of autoimmunity. Now SFN can also be caused by diabetic neuropathy, but then diabetes itself can be classified as autoimmune, or chemical exposures, but probably more autoimmune causes then anything else. Autoimmune causes of sfn can be challenged and repaired, in other causes the nerve damage is permanent. He suggested IVIG to challenge the autoimmunity, most insurance does not cover IVIG for SFN yet, but does for polyneuropathy. If you also have damage to both small and large fiber nerves you will qualify for IVIG under polyneuropathy. So, he ordered plasmapheresis instead. It worked my HR/BP normalized without BP meds. I however got an infection (more about infections later) and anemia. He then tested my quantitative immunoglobulins, which are IGG, IGA, IGM. I had no IGM and very low IGG. I now had a confirmed diagnosis of hypogammaglobulinemia sometimes called CVID common variable immune deficiency. I now qualified for IVIG. The first IVIG product was carimune it has 2% sucrose and I responded poorly to it because I'm prediabetic PCOS/hyperinsulinemia. My metabolic profile worsened and I had to go back on glucophage/glumetza. Not to mention I got what they call the IVIG flu, painful! We switched to another IVIG product privigen after four months and since the switch everything was slowly getting better and no IVIG flu just some painful headaches, a common side effect which passes. We started reducing the amount I was on in May and I presented with Lupus in August. The reduction may have unmasked Lupus which is very hard to diagnosis to begin with. So maybe a back door blessing to my autoimmune cause.

Autoimmunity

I had a history of a positive ANA back in the 80's, pointing to autoimmunity. However, autoimmune testing was still on a major learning curve back then and I didn't fit any one specifically, they said mixed connective tissue, a diagnosis which has been redefined since then and which my symptoms don't fit at all now.

So diagnosis has been a moving target since then. Any one relate? My ana started coming back negative after years of positives with symptoms. Then got stuck in fibromyalgia for years, kept getting worse. Lost a baby then they found the PCOS/endometriosis and found I had hyperinsulinemia causing it. Treated with glucophage and had improvements in the endocrine arena, but not in the symptoms we all now know as dysautonomia. That's when I found dinet and read everything and the links on the main page to causes. I fitted SFN the best. Saw Yan Go at UCLA. She said get BP machine and do the poor mans tilt in different positions every day until I saw her again in a few months. I had no idea my HR/BP was swinging like that. She said go to mayo. My insurance wouldn't allow so went to vanderbilt. They did some testing but not TTT. My testing was compromised by a recent car accident any way. He did put me on pots treatment plan. Which I followed but didn't improve. Then my colon ruptured, do to undiagnosed infection. I survived without surgery, but surgeon said you will need resection, but you need to find out what is wrong with your autonomics before I do surgery. Just prior to the ruputure, I had given up trying to figure out what was wrong, because my not so lovely primary said to me "are you one of those people that looks things up on the interenet and there is really nothing wrong with you." I fired her after the ruputure which happened a few months after she said that to me. So the ruputure forced me back on the diagnosis path. The surgeon suspected autoimmune and sent me to rhuemy, who didn't find much new. That led to the cardiology practice where the TTT was finally done. However the ep doctor who did that test molested me during my second appointment with him. Two months later he got arrested doing it to a patient who was under for a pace maker and coming out of anthesia. He was fired and is awaiting trial. He was charged with abusing or assaulting 19 women, out of 25 who came forward after his arrest. Talk about going down a rabbit hole. The positive TTT however gave me proof and power to go in a new direction which led me to my neurologist. After the rupture I was in survival mode and that kept me moving past the deviant doctor. Which led me to the SFN diagnosis above. That then led to the hypogamma. A few months ago I started noticing my cheeks were red flushed like a sunburn or when your warm. I said to myself, gee that looks like a lupus butterfly malar rash, can't be lupus though my ANA was negative the last few times it was tested, so I dismissed it. Then I got a strange lesion on my scalp that started to indent and didn't go away, so I went to my dermatologist. She took one look at it and said "do you have lupus?" Ironically, I am back full circle to the 1980's. She did a biopsy of the lesion and it came back lupus scarring alopecia. Ana was retested and was positive this time with a homogenous pattern. She ordered several more lupus labs and they came back positive for SSA and sm/rnp autoantibodies which all point to SLE or systemic lupus and sjogren's overlap. I was shocked these tests had never been positive before, but I was visually presenting and the labs supported it. From what I understand lupus labs can go from abnormal to normal fairly quickly. I also found out that the ANA does point to some type of autoimmunity not always lupus and the pattern of the ANA points to different autoimmune diagnosis. It has come a long way since the 80's. So how do infection, hypogamma and neuropathy relate. They are all part of a lupus or autoimmune complex of symptoms, including GI symptoms. Now for infection and immune defects.

Infection/hypogamma

Since a child I had chronic tonsillitis and swollen glands, then mono, and I have latent non active TB. I have chronic yeast and BV infections and recent years elevations in white blood count. I would feel like I had a fever and fluey, but only have frequent very short low grade fevers or none at all. Had lots of GI pain, but normal scopes. Then my colon ruptured and the highest my fever was 100.2 with a WBC in 20,000 and a rip roaring infection. I didn't know I had mono until I had huge white growths in my throat. I don't know I'm getting sick until I'm really sick. I always felt sick, so how do you tell between a little sick or a lot sick. I guess when you end up in the ER. What I now know after much research is that if you have immune defects your body can't mount a normal defense, so you don't get a normal fever as a sign of infection. If you don't have a fever most docs don't think you are fighting an infection.

So my shot at tying all this into a neat bow. Don't know what causes autoimmunity like lupus, genetics, environmental exposure maybe, but autoimmunity can damage the nerves causing a variety of symptoms. If it's the small fiber nerves as in my case, it causes the autonomic neuropathy, that can show as dysautonomia. Neuropathy of the GI tract and other digestive organs can cause endocrine disruption like hyperinsulinemia and diabetes, which led to pcos. With Lupus now presenting we now know that is most likely the source of the autoimmunity, and one of lupus's most commonly associated immune defects is CVID/hyppogammglobulinemia which is why I don't fight infection very well and keep getting sick with some sort of bacterial, fungal or viral bug. Just a note about CVID most people that have this present with recurrent sinus and upper respiratory infections. Except for the tonsils and swollen glands my presentation has effected my gi and female areas, high wbc and I also have elevations in my platelets, you can also present with low platelets.

So one thing leads to the other and many autoimmune illnesses have more in common then don't. Treating these illnesses is evolving like IVIG to build up and oppose the autoimmunity. Suppression is still first treatment choice, but steroids and immune suppressants are difficult with someone who also has cvid on board. Treating infections is necessary, but type of infection needs to be determined first. Of course there are always the treatments to manage symptoms. I believe pots is only a symptom of another underlying illness and while treating symptoms helps, it does not go to treating and or finding cause. So I encourage us all to keep looking until we know what is causing our pots symptoms.

As for me I'm still on the path to treatment plan and will back with a rheumy and finally seeing infectious disease to properly manage infections when they occur. I now know and accept that unless god decides to heal me, and he could, that this is not going away and will need to be managed until my time is up. Sometimes, there is peace and knowing and accepting things are what they are, while still doing our best to stay as healthy as we can. We can't let the illness or diagnostic dragons rob our joy and we can find purpose in learning and pursuing better ways to diagnosis and treat these hard to understand defects, while we help each other find our way through it all. Dinet has been a wonderful resource for us to do just that. We will make it better and easier for those who follow us. So stick to your guns and don't let anyone tell you it's all in your head, just because they were not knowledgeable to order the right tests.

Macks mom and maiysa let me know if I didn't cover your earlier questions.

[Guest maia]

Blessings Arizong Girl.. for typing this all out, for what you have been through, and for pushing for answers! I finally found someone to help get to the bottom of my sfn, and am rather curious about your cvids dx. classicly i have low platelets, low grade fevers as opposed to high even when very ill=though i am/was rarely ill except during child hood and lately... ig's are low normal, ana neg, gliaden neg.. will delve more into those another time, but im wondering if you or anyone has had cd counts done. im not hiv+ but due to recurrent illnesses and medical exposure i have had them checked occasionally. they are also low. ill do a some research, but wondering if you recall anything like this in your cvids travails.

[CharmedLinz]

WOW, thanks for all the awesome information!!!

I've spoken with you in the past about your Doctor and may be able to head that way after December. My insurance now won't cover anything out of state so my case is up at the Mayo in Rochester for research evaluation, but that doesn't look too promising.

After December I will be on Medicare so maybe then I can actually get some help.

Just saw another Neurologist who shook his head, wouldn't even look at my symptom list or MRI's, blatantly did EMR and EMG on my legs, to which he said before hand he didn't know why he was doing that he knew I had neuropathy. Then as he was doing the shocks and watching the screen he was confused as everything looked normal. Though I couldn't feel any of it.

So during the EMG, everything looked and sounded normal but I couldn't feel the needles know matter how far he stuck them in or where.

He said I have Sensory Polyneuropathy....nothing he can do and he doesn't deal with autonomic issues, no one here does!!! But he said it's probably autoimmune. Though then my Rheumy has no new ideas at all other than he said if Mayo doesn't work out he can order muscle and nerve biopsies.

I have 6 docs telling me to see a Neuro for my left sided weakness from birth that it must be Neuromuscular, get to the Neuros and they all completely dismiss it entirely.

I'm so glad you finally have some answers.....should we expect to see you on Mystery Diagnosis? )'

Thank you for sharing!!!!

[issie]

Arizona Girl,

It sounds like you've been down and are still on a really bumpy, hard and long road. I'm glad you are finding answers and that something is seeming to help you to feel some better.

I do agree with you that this illness is probably only going to be cured by the Almighty God and we know he has that power. I find comfort from that hope that he promises to us in Revelation 21:4 - showing we will no longer have pain or a cause for tears. He promised this to mankind and I believe in his promise. It's nice to have a hope for the future and something to hold onto when times get difficult.

You answered most of the questions I was going to PM you about - but your box is full and I couldn't send it in to you. I had a few more questions about the lupus lesion - since I have developed alopecia - wondering what it looks like. My doctor said lupus lesions look different than regular alopecia. If my cortisol shots don't stop my immune system from attacking my hair - he said he was going to do some other testing for other things. My ANA is always negative. Does that sometimes fade or is it constant with you? Since I have vitiligo too - the docs KNOW a good part of my issues are auto immune. I have low IGG levels - but the other levels are okay.

Hang in there and thanks for posting you journey.

Issie

[HopeSprings]

WOW. Thanks for typing all of that. I know you did that to help us with information. I admire your persistence and hope this therapy will work for you. I read a post from you from about a year ago? when I think you started the therapy. Have you seen much improvement in the dysautonomia symptoms since that time? You think you're on the right treatment path?

[juliegee]

((((((Arizona Girl)))))))

THANK YOU for taking the time & energy to lay that out for us. Your victimization by the EP (and subsequent physicians through their ineptitude) is heart breaking and infuriating to read.

I hate to hear that IVIG wasn't the perfect answer for you. I am struggling about whether or not to try it. Did you ever try the sub Q form? My numbers have never been as low as yours- IgG around 500.. I am starting to have all of that low grade chronic stuff- sinusitis, weird vaginitis, skin issues, etc. I am treating each individually with various remedies: Wilson's solution (saline and antibiotics delivered via neti pot), topicals, low dose antibiotics, etc. Having already been down the IVIG road, would you recommend that I try it? Did the benefits outweigh the side effects?

Re. your ruptured colon, I just wanted to mention the possibility of an underlying connective tissue disorder. Have you ever explored this? Many members of my immediate family have also had rupturing organs- aortic aneurysms, carotid dissections, etc.

Thank you again for your generosity in sharing your story. You have helped me & countless others by doing so.

Hugs-

Julie

[arizona girl]

Thanks for all the nice responses. Yes I was putting my story out there so you all could see if you fit some of the things I'm dealing and know what direction to go in from there; and that more often then not pots is a symptom of another condition. I met with Infections disease doctor yesterday, more tests, then we will see. The latent TB my actually impact treating Lupus/autoimmunity with immune suppressants. So not sure what direction my treatment plan will go in. Thank goodness there is a treatment like IVIG which replaces the immunoglobulins, available to me. I'm pretty sure the SFN causing my pots/dysautonomia symptoms is autoimmune. Though pheresis seemed to have worked faster, that is a harder treatment to stay on then IVIG. I am improving with IVIG it has just been slower, partly do to not tolerating the first product carimune. There are a lot IVIG and subq products, responding better to one over another is not unusual and a person may need to switch around to get the right one for them. Also, yes there are side effects with IVIG, but most of them are easily managed with pre meds like benadryl, tylenol and decadron. I only use benadryl and tylenol, because of the issues with steroids

Maia

im wondering if you or anyone has had cd counts done. im not hiv+ but due to recurrent illnesses and medical exposure i have had them checked occasionally. they are also low. ill do a some research, but wondering if you recall anything like this in your cvids travails.

Yes, I've had compliments done, but not before IVIG, so not helpful. There are a lot of them depending on what they are looking for. Your description of low grade fever and platelets does fit w/cvid, there are several primary immunodeficiencies. I also only have low grade fevers on none even with a colon rupture. What I do know is that the first test is the Quantitative Immunoglobulins (TQI) which is a total test. There are lots of individual IG test that can look for specific diseases, but they don't look at your total immune system. If TQI come back low normal, test also for sub IGG panel, IGE, also the vaccine challenge testing will show if the immune system is responding poorly even if TQI are on the low normal side. You will still qualify for iVIG if that is happening, even with TQI,s in the normal range.

charmedlinz: Your so funny, yes, I think a lot of us here could make it to mystery diagnosis. It does look like neuropathy is right. Are you getting worse of staying the same? I don't remember what other symptoms you have and what was the rheumy for? Rheumy's treat certain autoimmunes but not all. Neurologists and hematolgists also treat them. An emg only tests the large fiber not the small fiber, so no surprise it was normal, but you said you have weakness which is more associated with large fiber. Sensory nerves are small fiber nerves. Interesting that he suggests the biopsies and hasn't ordered them, I would do them before going to mayo. Rochester is better then scottsdale mayo, do go if you can. Do you know if your neuro specializes in neuromuscular autoimmune/genetic disease? It is a very small subspecialty and there are not a lot of them out there. If they do skin/muscle biopsy they are probably treating too. You could call Phoenix Neurological associates and see if they know a neuro where you live that can do those biopsies? Even if you came here to get diagnosed, you will still need someone there that can provide the treatments, you will need. I don't think you need to wait till next year to get those biopsies done. I think your going in the right direction. I hope the train moves faster then it's been. I know how frustrating this is.

Naomi, yes I think I'm on the right treatment and a year out I can see that I've had improvements. Pain levels are way down and some autonomic function is improving. IVIG alone though doesn't treat everything, so I'm still working on that part of it.

[lgtaylor100]

Arizona Girl - How were you able to determine that your neuropathy is autoimmune? Does that mean that your POTS is autoimmune also. How was this determined. I am going to see a neuromuscular doctor next week but I don't know if he treats autoimmune neuromuscular disorders. I have a positive ANA 1:320 and a positive smooth muscle antibody. I went to a top rheumatologist thinking it was Sjogren's because I have so many of the symptoms but the lip biopsy did not meet the criteria for Sjogren's and the blood work did not indicate any rheumotological disorder. I thought the Sjogren's could be causing the dysautonomia. I also believe that POTS is a symptom of another condition and so does my primary doctor but so far we have had no luck in determining it.I will be seeing an endocrinologist in a few weeks. After that, seriously thinking about Mayo.

If you already answered my question in your detailed explanation, I apologize, but I am very fuzzy today.

Thanks,

Lynne

[HopeSprings]

"I went to a top rheumatologist thinking it was Sjogren's because I have so many of the symptoms but the lip biopsy did not meet the criteria for Sjogren's and the blood work did not indicate any rheumotological disorder. I thought the Sjogren's could be causing the dysautonomia."

Lynne, I've been considering Sjogrens too. Blood tests were normal, but I hear lip biopsy is more accurate. How was the procedure? Was it painful, were you left with any numbness? Can you share the name of the Rheumatologist? And out of curiosity, are you still on antibiotics for the suspected Lyme?

Thanks.

[lgtaylor100]

Naomi -

The Sjogren's specialist is Dr. Vivino at the U of Pennsylvania. He is one of top experts in the country on Sjogren's. So if he says I don't have it I guess I don't. He says the Sjogren like symptoms are probably from the dysautonomia. The lip biopsy wasn't that bad. It was sore for a day or two but no numbness after the anesthesia wore off.

Also, I am still taking a small dosage of doxycycline for blepharitis but my primary doctor seems to have given up on the Lyme theory. I'm feeling worse after cutting my dosage of doxycycline though. Not sure what that means.

Lynne

[HopeSprings]

I'm feeling worse after cutting my dosage of doxycycline though. Not sure what that means.

I don't know - if it was making you feel better, I'd ask to up the dose and see if it does anything for you. If you're saying it did nothing for the symptoms and now you feel worse, I'd chalk it up to some bodily reaction to coming off the antibiotics.

[janiedelite]

Igail, just a thought... I'm on 50mg/day of doxycycline for rosacea as it's been shown to decrease inflammation in blood vessels. I have to take it for about 3 months before I see results so obviously the anti-inflammatory effect isn't very pronounced. Maybe it did help a bit with inflammation?

[lgtaylor100]

Thankful and Naomi - It's so hard to say , since our symptoms are so variable. The doxycycline definitely helped the dry eyes and I did have more good days when I was taking the larger dosage than I am now, so maybe it was helping with inflammation. Might be worth taking the 100 mgs a day again to see if I feel better.

[HopeSprings]

Inflammation and or an infection. I still don't discount the whole Lyme theory. I wouldn't even rule it out for myself. Since there is no reliable testing available and the symptoms are almost identical it's possible. If I were you and saw any benefit in my dysautonomia symptoms from antibiotics, I'd be asking them to up the dose.

[sandymbme]

Wow, Arizona Girl, kudos for being so open, and extra kudos for making very complex subjects as clear as possible. Given the number of days I don't make sense, even to myself, I am doubly impressed at your description of your history and your dx'es. I have heard subq is tolerated better by many people. In any case I wish you all the best in your journey, and applaud your courage in refusing to allow a disgusting and unethical doctor deter you from finding answers. I hope that you have an enormous amount of positive support in your world. I know I would never cope nearly as well without my support network. I have had enough trouble myself at times continuing to pursue my journey for knowledge after run-ins with judgmental and dismissive healthcare workers. To continue to press on after so horrific and traumatic experience is unparalleled courage.

Sandy

[arizona girl]

Hi Issie and Macksmom, I didn't forget about you. I had to leave for PT and ran out of time.

I hate to hear that IVIG wasn't the perfect answer for you. I am struggling about whether or not to try it. Did you ever try the sub Q form? My numbers have never been as low as yours- IgG around 500.. I am starting to have all of that low grade chronic stuff- sinusitis, weird vaginitis, skin issues, etc. I am treating each individually with various remedies: Wilson's solution (saline and antibiotics delivered via neti pot), topicals, low dose antibiotics, etc. Having already been down the IVIG road, would you recommend that I try it? Did the benefits outweigh the side effects?

Re. your ruptured colon, I just wanted to mention the possibility of an underlying connective tissue disorder. Have you ever explored this? Many members of my immediate family have also had rupturing organs- aortic aneurysms, carotid dissections, etc.

Macksmom, Well I don't think any treatment is the perfect answer. If there were one we'd be all over it, better and living our lives more fully. All meds have side effects, some are acceptable some are not. Right now though the IVIG has been my best option. I got exposed to TB somewhere, it is the latent form (nonactive), but it may effect what meds I can take to suppress the Lupus. It may end up being the only thing I can do to treat the autoimmunity. I think I would have been much worse, if I was not on it. IVIG isn't magic and it can't address all the issues that surround autoimmunity, immune deficiencies and the associated infection, but it does boost you and help your body fight off that which it can't do on it's own. It works best when supported by other therapies, like infection fighting meds, be they bacterial, viral or fungal and immune suppressants if you can take them.

I have thought since we first started talking about IVIG that you would benefit from it. Your known diagnosis and symptoms really do fit a CVID diagnosis, which is why your doctor can prescribe it for you. If you don't have one of the FDA approved illnesses IVIG is approved for, it is very difficult to get insurance to pay for it. You won't have that struggle. Do I think benefits out weight the side effects, that would be a BIG YES!! My pain levels alone have improved so much, which has got to mean it is helping the SFN, the autonomic symptoms are slowly improving. My doctors said it could take up to two years to reverse the nerve damage. That being said, I still have something causing my elevations in WBC, the Lupus will still need to managed and until autonomic symptoms subside I will still need to take meds to control them.

I think the choice between IVIG and sub Q, is a personal one. If you are okay with getting stuck or sticking yourself weekly and/or if you have such terrible side effects from IVIG you can tolerate it, then sub Q is the way to go. I could never stick myself and I don't want to have to think about doing it every week, so IVIG is probably what I will stay with. If you decide to do IVIG there is stuff to watch out for and do that will keep the side effects to a minimum. Speed of the infusion causes the most problems.

The kind of ruptures your talking about sound more like a version of eds. Lupus is a connective tissue disorder and there is a condition called serositis that causes inflammation of the organ lining, which may be what's been going on with me. Let me know if you need more info, if you decide to do IVIG, remember you are at risk for getting an infection that you can't fight off.

I had a few more questions about the lupus lesion - since I have developed alopecia - wondering what it looks like. My doctor said lupus lesions look different than regular alopecia. If my cortisol shots don't stop my immune system from attacking my hair - he said he was going to do some other testing for other things. My ANA is always negative. Does that sometimes fade or is it constant with you? Since I have vitiligo too - the docs KNOW a good part of my issues are auto immune. I have low IGG levels - but the other levels are okay.

Issie, I couldn't see the lesion, but it was raised red and started to pit. She biopsied, did he biopsy? There is no way to tell for sure without biopsy. Her name is Kristen Peterson at East Valley Dermatology, right by Chandler Regional Hospital, if you want a second opinion. She ended up not needing to do the cortisol shot, but recommended I use generic rogaine for men. Her best friend is a PA for a rheumatologist, ironically the same one I saw back in 2003. God is watching over me. My ANA was positive for years, then negative the last 3 or 4 times I tested, until this recent flair the rest of ana/ena panels were also negative until this flare as well. It can change quickly. It won't be official till I see the rheumy though. What is important about ana is the pattern as it points to different autoimmune disease. Low IGG with recurrent infection is a sign of hypogamma. Have they checked your sub igg panel or done any vaccine challenge testing? With all you've had going on you obviously has some kind of autoimmune dysfunction. I don't know if you know but there are 11 criteria to diagnosis lupus and a positive ana does not have to be one of them. Also as I said early autoimmunity and immune defects tend to trend together. Hope this answers your questions.

[CharmedLinz]

sorry in advance for the horrible typing and grammar skills.

AZ Girl tried to PM you but your box is full, so since i already typed it all out i will just share it here, hopefully it will link more of us even closer together.

Thanks again for posting all of your journey, I have printed it out and will be handing it to my Primary as he reads everything I give him.

To answer your questions....I'm pretty much out of Neurologists here to try, at least under my current insurance.

I've been to 3. The first one did absolutely nothing!

2cd one has a bad rep and we took a friend with us who was an Internist, so we got better treatment than I think we would have otherwise (Mom and I). This one looked at my first MRI and said I have a borderline Chiari Malformation, and I also have a lot of white matter lesions that no one has been able to explain. He humored me by doing EMG (just of my right arm) which was normal on computer but I couldn't feel, he didn't believe me. Also did EEG and the shock one to the ankle. Said everything was fine on the computer and sent me on my way.

I am seeing a Rheum because my Grandfather had Ankylosing Spondylitis and I'm positive for the HLAB27 gene as is my Mother and she did have Uveitis at one point and we believe she had Dysauto and POTS as a child that has somewhat resolved.

The Rheumy ran full x-rays and AI panels which were negative. This Rheumy seems to be able to get all the things done that none of the other doctors know how to order here.

He was not impressed with my treatment by the Neuros and ordered a spinal tap. Which showed nothing, except that people with Chiari Malformations shouldn't have spinal taps. Bedridden for 3 weeks with 2 trips to ER, scheduled for blood patch which spine doc said couldn't do because of Chiari.

So Rheumy sent me to last Neuro 2 weeks ago or so, hysterical, would NOT even glance at symptoms or MRI's but did the EMG of my legs.

Shock tests and needles all look fine on screen but I literally cannot feel the shocks or the needles at all.

He said i need a subspecialist and to get to mayo because there are none here. Totally dismissed my left leg, as all the Neuros do.

I've seen one geneticist as a consult only to rule out Marfan's. She was very concerned about my left leg. I was stuck during birth and deprived oxygen and have horrible left sided weakness and muscle deformity in ankle/foot.

Combined with other symptoms I'm starting to think maybe Marie Charcot Toothe disease, but that may be a stretch.

Genetecist suggested probably mito issues too.

I also have vestibular problems, 2 type of Nystagmus and probably inner central right ear defect. Another flake of a doctor, only Neurotologist in the state, got the Videostinography and he's done with me.

Also I do have a great allergist who is doing all he can, knows I have mast cell issues, just not sure what exactly.

Rheumy is the one that will order biopsies f need be he's the only one here who knows how to order them.

Other problems.... looks like polyendocrine failure, I have adrenal insufficiency (pituitary based), thyroid is full of cysts, female hormones are practically non-existent.

Had hysterectomy in June, surgeon was shocked to find my ovaries shriveled up and all of my abdominal tissue was fibrotic to the point he had to cut it away from my bladder so he could do the surgery. Also had adhesions and I've never had surgery or injury. Primary doc and GI really think that has to be AI and Connective Tissue.

As for the dysauto....major family history, cousin was diagnosed at 14 by watkins in alabama with POTS and MVP, she is 28 now, 2 years younger than me and got malignant thyroid cancer 2 years ago. My pcp thinks i have POTS, cardio thinks just OH and Neuro Syncope.

GI has done every test known to man and only found that my Gallbladder doesn't work great.

My PTH is undetectable we saw thyroid surgeon who came from mayo, she said get to mayo, I live in a crappy place for specialists, her words.

also have unexplained high growth hormone, high eosinophils, and high platelets. sometimes low red blood cells and anemia, white cells are always ok.

glucose is also a big issue and after reading your story my gyno is ordering tolerance test with insulin checks too.

case is at mayo rochester being looked at by the research team, but doc says not to get ,my hopes up.

your doc sounds like he may be my answer after my medicare kicks in december.

i probably left some things out but as im sure you can tell my typing has gotten prgressvely worse even throough this email. finger strength and coordination gets worse almost daily.

will be able to type more after some rest.

[arizona girl]

Arizona Girl - How were you able to determine that your neuropathy is autoimmune? Does that mean that your POTS is autoimmune also. How was this determined. I am going to see a neuromuscular doctor next week but I don't know if he treats autoimmune neuromuscular disorders. I have a positive ANA 1:320 and a positive smooth muscle antibody. I went to a top rheumatologist thinking it was Sjogren's because I have so many of the symptoms but the lip biopsy did not meet the criteria for Sjogren's and the blood work did not indicate any rheumotological disorder. I thought the Sjogren's could be causing the dysautonomia. I also believe that POTS is a symptom of another condition and so does my primary doctor but so far we have had no luck in determining it.I will be seeing an endocrinologist in a few weeks. After that, seriously thinking about Mayo.

lynn, a positive ANA as high as yours is a marker for autoimmunity, not sure what a smooth muscle antibody is, are you referring to an autoantibody called sm or sm/rnp? ANA is a maker of several types of autoimmune illness, what is important is the type of pattern it has. What was your pattern type? What are your dysautonomia symptoms? My autoimmunity was concluded by several things. ANA pointed to it, skin biopsy showing small fiber nerve damage which is causing my autonomic dysfunction, plasmapheresis which removes the offending autoantibodies and improved my autonomic symptoms, recent scalp biopsy showing a lupus lesion and recent labs positive for sm/rnp, ssa and ana w/homogenous pattern pointing to lupus which is an autoimmune disease.

If you have autonomic dysfunction I'd ask that neuromuscular doc to do skin biopsy for small fiber neuropathy. Also you can still have sicca like symptoms without having sjogrens. Let me know how your appointment goes.

[lgtaylor100]

Arizona Girl and anyone else who has any other ideas -

My rheumatologist says that my Ana is not high and points to the info that many people over 60 after positive ANAs. To me that is not a good answer because of all my symptoms but he is very knowledgeable about Sjogren's. The pattern type is speckled which is indicative of Sjogren's. Also, he told me that my lip biopsy was not negative but did not meet the criteria for Sjogren's. The SMA is an auto-antibody which could indicate auto immune hepatitis but no one is taking that seriously either and says it is only slightly elevated and these are non specific tests..I have also been tested for other rheumatic diseases (autoimmune) and they were all negative.

I did test positive for POTS on a TTT. My symptoms are severe fatigue, tachycardia, weight loss followed by weight gain, dry mouth and dry eyes, hair loss, neck pain ( have some cervical stenosis), pain and weak feelings from the waist down, I am not actually weak and pass all of the standard neurologic tests as well as an EMG.

Nonetheless, I am getting sicker and sicker. I have adrenaline surges that last for hours and leave me totally wiped out. I also do not sleep well and wake up three and four times a night.

I have been to almost every kind of doctor(except endocrinologist and neuro- muscular) who I will see within the next few weeks. I have been tested for many things.Most things are negative but I do have a low IGg 3 which falls below I have been to two dysautonomia specialist and neither were very helpful.

Any ideas for next steps would be appreciated.

[issie]

arizona girl,

What is a vaccine challenge? The allergy doc had wanted me to take the pneumonia vacinne and then recheck my antibodies, but I was afraid to take the vaccine because it could give you Gillium Barre. My father got this from a flu vacinne. I saw what that did to him and it was horrible - he will never completely recover from it. He did a baseline check and my antibodies are really low for that. I don't know if that's what the vaccine challenge is - what would that show?

I'm having the cortisol shots and was told to use the Rogaine. I haven't been regular with the Rogaine though. You are supposed to use it 2 times a day and not get it on you any where else and sleep with something on your head or you'll get it from your pillow case on your face - so need to get some sort of sleep hat and then get regular with it. I've had two of these injections. I did okay the first time, but the second time it put me in the bed for a week. I know I already have weak adrenal function - don't know if this was what made me crash or it was just coincidence. I will talk to him next mo. as to whether to do it again. So far, it's not working. I'm collecting some really cute hats. It's good I like to wear them.

[juliegee]

Thanks for the reply, AZ Gal. I am HAPPY to hear that IVIG has been more helpful than not. I don't know why I am such a chicken. I guess I'm afraid of an anaphylactoid reaction . It's wonderful to hear that it's helped with pain AND has improved your autonomic symptoms- Yay!!! I have a rheumy who's pushing me that direction now. Your info's been really helpful. I pray you continue to improve. Keep us posted on all you learn. It's been fascinating to watch the layers of your onion peel away. I love that you are getting some answers!

Gratefully-

Julie

[arizona girl]

This one looked at my first MRI and said I have a borderline Chiari Malformation, and I also have a lot of white matter lesions that no one has been able to explain. He humored me by doing EMG (just of my right arm) which was normal on computer but I couldn't feel, he didn't believe me. Also did EEG and the shock one to the ankle. I am seeing a Rheum because my Grandfather had Ankylosing Spondylitis and I'm positive for the HLAB27 gene. The Rheumy ran full x-rays and AI panels which were negative. This Rheumy seems to be able to get all the things done that none of the other doctors know how to order here.

He said i need a subspecialist and to get to mayo because there are none here. Totally dismissed my left leg, as all the Neuros do. She was very concerned about my left leg. I was stuck during birth and deprived oxygen and have horrible left sided weakness and muscle deformity in ankle/foot. Combined with other symptoms I'm starting to think maybe Marie Charcot Toothe disease, Genetecist suggested probably mito issues too. I also have vestibular problems, 2 type of Nystagmus and probably inner central right ear defect. Videostinography, I have mast cell issues, just not sure what exactly.Rheumy is the one that will order biopsies f need be he's the only one here who knows how to order them. Polyendocrine failure, I have adrenal insufficiency (pituitary based), thyroid is full of cysts, female hormones are practically non-existent.

Had hysterectomy in June, surgeon was shocked to find my ovaries shriveled up and all of my abdominal tissue was fibrotic to the point he had to cut it away from my bladder so he could do the surgery. Also had adhesions and I've never had surgery or injury. Primary doc and GI really think that has to be AI and Connective Tissue. Gallbladder doesn't work great.My PTH is undetectable we saw thyroid surgeon who came from mayo, she said get to mayo, I live in a crappy place for specialists, her words. Unexplained high growth hormone, high eosinophils, and high platelets. Sometimes low red blood cells and anemia, white cells are always ok. glucose is also a big issue and after reading your story my gyno is ordering tolerance test with insulin checks too. Case is at mayo rochester being looked at by the research team, but doc says not

Bless your heart, all of us that come here have struggled, but you really have a boat load on your plate. You would think with all the positive findings you've had, you'd be farther alone. I can feel the frustration and I understand it because of been there too. Mine was'nt so obvious so was harder to see, but your stuff is right in the doctors faces. After reading everything you are dealing with multiple complicated issues from multiple specialties, maybe you could find a patient advocate. I myself just hired a patient advocate to help me with mine. It has taken the stress off and she goes to my appointments.

You should be at mayo and I see no reason why they wouldn't take you. FYI mayo will diagnose you and send you home and they sometimes do different labs with different ranges, that I would have some one else repeat using standard labs if they come back normal.

What stands out to me, is that some of your problems are probably going to be related to your birth injury. They may not resolve. However, if I were you I'd be seeing a geneticist, endocrinologist, a hematologist and a neurology subspecialist that specializes in autoimmune neuromuscular disease. Your rheumy sounds great, stick with him. He should be able to treat any autoimmune rheumy problem.You can also have more then one autoimmune disease, they tend to clump together. Endo, hemo, neuro's and rheumies diagnosis them per persenting symptoms. Some of the other members here can better advise you what to do about mito and mast cell issues. Do a separate posts for those and you should get some good feedback.

FYI an emg only tests the large fiber nerves, so you could have a small fiber neuropathy that is diagnosed by skin biopsy. I think you would be in good hands at Phoenix Neurological associates for the neurological end of this. White matter can be MS, which they also treat. They know what to test for and how to treat, including research protochols if you fit one. It can take a few months to get in with them for new patient. Why don't you call and make an appointment with them for december while you wait on mayo. Show your rheumy their web page and see if he will refer you in with a note from him. My neuro did that and I got in really fast. Don't give up, tenacity will get you where you need to be.

[arizona girl]

What is a vaccine challenge? The allergy doc had wanted me to take the pneumonia vacinne and then recheck my antibodies, but I was afraid to take the vaccine because it could give you Gillium Barre.

It basically proves the immune deficiency. If you don't produce antibodies to the vaccine then it proves the cvid. He checked your quantitative immunoglobulins and those were low right? If that's the case, that may be all you need to treat it. I can see the reason for not doing it with your family history. Your doctor could note that and request treatment.

I'm having the cortisol shots and was told to use the Rogaine. I haven't been regular with the Rogaine though. You are supposed to use it 2 times a day and not get it on you any where else and sleep with something on your head or you'll get it from your pillow case on your face - so need to get some sort of sleep hat and then get regular with it. I've had two of these injections. I did okay the first time, but the second time it put me in the bed for a week. I know I already have weak adrenal function - don't know if this was what made me crash or it was just coincidence. I will talk to him next mo. as to whether to do it again. So far, it's not working. I'm collecting some really cute hats. It's good I like to wear them.

Ewe I didn't know that was how you had to use it. I haven't bought any yet. I thought I'd be using it in the shower, after washing my hair. Yea, I'm not to kean about the shots either.

[CharmedLinz]

Hi AZ Girl,

Thank you for all the wonderful input, I really truly appreciate it.

May I ask.....what would a Hematologist be able to do in your opinion?? I have thought about asking my PCP for a referral to one, just because that's about the only specialist I haven't seen, and maybe it would be new eyes on the case.

I would LOVE to see a Geneticist, part of why I'm hoping the Mayo works out. Unfortuneately and isn't this sad....we only have one Geneticist here, who is a pediatric geneticist. I saw her for a consult appointment, that took 3 of my docs and 6 months to get my insurance to approve. All she was allowed to do for me was rule out Marfan's.

Like I said, she was very concerned about my birth problems and left sided weakness and said it sounded Neuromuscular to her.

All 3 Neuro's I've seen have completely dismissed my left sided weakness from birth, and by completely dismiss I mean....no tests on that side of my body and when we ask if it could have anything to do with all of my other illness they all say "NO". It's utterly ridculous.

The spinal tap was totally normal, so no MS.....yet everyone thinks the lesions are strange.

My Rheumy is great....though not my favorite Doctor......but he's the one that seems to know how to get things ordered, so will stick with him until he totally gives up.

Endocrinologists are another bad set here.......I've seen 5. Finally liked the last one some what and she moved practices and I can't see her anymore. I've found with the Endo's that if you don't fit in the perfect little box they just don't want to see you.

Luckily I have an awesome PCP who works his tushy off for me.....most of the time anyway. I do have a health care coordinator nurse appointmed to me through my insurance. She just does the squeeky wheel thing. Can't attend appts with me.

How did you go about finding a patient advocate?

If I do get to see your Doc and I can get DX'ed and a treatment plan that included IVIG, I do know that our infusion center here is great and they do IVIG. I also believe our great Hematology/Oncology place here does IVIG and they have stellar reputations as well.

Meanwhile at least my GI Doc hasn't given up and at last appt he said if nothing else gets done.....he will be glad to prescribe medicinal marijuana for me......that would be funny!!!! I think I'm one of the few people I know who has NEVER even tried it, ever! My parents are true hippies and can't believe it.

I told my Doc I wouldn't smoke it, he said I could stick in my ice cream or brownies. I think I'd rather try the IVIG!!!

Latest test he ordered just came back......more strangeness...........he ordered 3 types of hydrogen breath tests. The first was lactose, done on Tuesday, results came back showing I had a high baseline hydrogen meaning I didn't fast properly, which I actually over-did, 13 hours instead of just 10.

Thanks as always for the presence and words of everyone here.

[arizona girl]

Arizona Girl and anyone else who has any other ideas -

My rheumatologist says that my Ana is not high and points to the info that many people over 60 after positive ANAs. To me that is not a good answer because of all my symptoms but he is very knowledgeable about Sjogren's. The pattern type is speckled which is indicative of Sjogren's. Also, he told me that my lip biopsy was not negative but did not meet the criteria for Sjogren's. The SMA is an auto-antibody which could indicate auto immune hepatitis but no one is taking that seriously either and says it is only slightly elevated and these are non specific tests..I have also been tested for other rheumatic diseases (autoimmune) and they were all negative.I did test positive for POTS on a TTT. My symptoms are severe fatigue, tachycardia, weight loss followed by weight gain, dry mouth and dry eyes, hair loss, neck pain ( have some cervical stenosis), pain and weak feelings from the waist down, I am not actually weak and pass all of the standard neurologic tests as well as an EMG.Nonetheless, I am getting sicker and sicker. I have adrenaline surges that last for hours and leave me totally wiped out. I also do not sleep well and wake up three and four times a night.I have been to almost every kind of doctor(except endocrinologist and neuro- muscular) who I will see within the next few weeks. I have been tested for many things.Most things are negative but I do have a low IGg 3 which falls below I have been to two dysautonomia specialist and neither were very helpful.

Any ideas for next steps would be appreciated.

When you see the neuro ask for a skin biopsy for small fiber neuropathy. If your sf nerves are damaged it could explain the pots symptoms. Have they checked your standing and supine catecholamines yet? If your going to an endo, then you haven't had a full endocrine work up yet. I would see those doctors now and see what they have to say. Let us know how it goes.