arizona girl

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.

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

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 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.

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.

Hi guys, well I was planning on posting a new update on what's been going on with me. I've noticed there are a lot of new folks posting and focused on pots being THE diagnosis and then only treating symptoms and not cause. So, I'm going to start a new thread so the newbies can see that there can be more to this, especially if small fiber neuropathy has been diagnosed. Also any newbies that want to know what causes I was tested for can search my posts about small fiber autonomic neuropathy and use my neuro's name Dr. Levine in arizona, not the one in texas with the exercise plan. I don't feel like retyping all that stuff again. Okay look for my new post, okay. AG

Hi, got your note. I was offline because I had IVIG this week and got a bad headache. I read your posts, you said that mayo was far for you does that mean your not in arizona? I've read your posts and see that we do have similar symptoms. I don't black out though, just near syncope that I'm good at avoiding triggers for. I've been out to mayo too, not to goodman, but other docs there and found my experience there to not be helpful. I'm guessing you had the tilt table done and skin biopsy done? I don't know if you've looked into the other causes for autonomic neuropathy? Yes pots, hyper, hypotension and syncope can be a symptom of this type of neuropathy. It is important to look to other cause when this is diagnosed, I think goodman at mayo does a good job of treating symptoms, but not necessarily looking to further cause. It least from the feedback on this forum. There is a strong association of sfn/autonomic neuropathy being caused by many conditions some of which are life threatening. If you read my posts I've talked about many causes and the testing my autoimmune neuromuscular neurologist has tested me for and is treating me for. My neuropathy is autoimmune and has an immune deficency. I also have just fully presented with Lupus. So, how can I help you?

My heart goes out to you, this must be so scary and overwhelming. He was born with this malformation and it wasn't a brain injury? Have they given a prognosis or idea of what he will be able to do? Has he had any type of surgery or shunt.? Do they every refer to this as a chiari malformation? I did a quick google on "pediatric hindbrain malformation treatment" and this doctor at Seattle childrens hospital popped up. I know far away, but they might be a resource. Daniel A. Doherty, MD, PhDDevelopmental Pediatrics On staff since July 2005 Academic Title: Assistant Professor Research Center(s): Center for Clinical and Translational Research Center for Integrative Brain Research "Improving the lives of patients and understanding human brain development are the parallel goals that motivate my work. The excitement of identifying the genetic cause of a brain malformation is just the beginning. Understanding the disease mechanism and translating that knowledge into improved information and treatments for patients is the real payoff." Closer to boston, there is also chiari institute in long island: The Chiari Institute is the world's first comprehensive, multidisciplinary center for the management of patients suffering from Chiari malformation, a rare structural condition that affects the cerebellum; syringomyelia, a chronic disease of the spinal cord; and related disorders. Established in 2001 by the North Shore-Long Island Jewish Health System, the Chiari Institute is located in a state-of-the-art facility in Great Neck, N.Y. » Read more about who we are and what we treat. I'm sure you are a good mom and doing your and doing your best under very difficult circumstances. The last thing you need is a home health nurse that doesn't want to do the job. Contact your insurance company who is providing the service and ask for a change in nurse assignments. You need the extra help. Hold on to your hope. Even in the darkest of times silver linings can emerge. xo

Your right at 26, you wouldn't have had one yet. I think you might be right about nurses not making good patients, you all help every one else, and have a hard time letting people help you. One thing I've learned through my own walk is to trust your gut/instincts, don't write them off as "I'm just being a hypochondriac". Our bodies do have a way of pointing us in the right direction. It is wise to check out something as obvious as enlarged lymph nodes and lumps, they aren't suppose to be there. So, you have it checked out and it turns out to be nothing, no harm in making sure. If the lumps come and go it might very well be fibrocystic breasts which usually do hurt, and is nothing serious. Though they are harder to see cancers thru. The fact that yours don't hurt could mean something. Also be careful at your young age that you don't get brushed off by the doctors, especially if you look healthy. Many assume if your young and healthy looking how could anything be wrong with you, they love to blame these things on anxiety and depression. Young people can get sick too, better to be proactive and get on top of things early. My symptoms started being obvious around your age, though I think I've had symptoms all my life. Had I gotten treatment sooner I might be in a better place right now. You are aware that many different types of illnesses can cause pots type symptoms and those illness should be ruled out, before just relying on meds and lifestyle changes to control symptoms. Thank you for thinking of my friend. She is only 40, went back to work full time after finishing radiation. She now has disseminated valley fever and I am very worried for her that she is taking on way to much, you know stubborn nurse mind set. So let us know what you find out and try to be a good patient if there is something wrong.

You keep using TOS, don't know what that is. If it is not common to this forum, spell it out, because most of us may not know what it means. EDS itself can cause the pots symptoms/autonomic dysfunction and cause impingements, maybe causing neuropathy. Can one of our EDS's answer that for tinks. sx's? If you are in usa, maybe someone can suggest a hospital or doctor in your area. What autoimmune disease did your rheumy rule out? Some of your symptoms sound like a lyme or autoimmune and some sound like neuropathy. There are neurologists that specialize in autoimmune neuropathies and could also address neuro problems caused by EDS. If you can find a neuro that specializes in autoimmune neuropathy, they should be able to look to the whole picture. With EDS don't you have a specialist on board for that issue, they should be able to direct you to the right neuro's for neuropathy associated with EDS. A neuro that does skin biopsy for nerve damage also will be a good neurologist. If your out of the usa, there are also members on the forum from many countries that might suggest who to see. If you do a post about EDS and your symptoms you might get those members to help you more specifically. Your asking some questions that are hard to answer, because you haven't provided enough info about the specialist/GP and what they have already told you.

When was your last mamogram? Glad your seeing the doctor, you should rule out breast cancer first. My friend is dealing with this right now. She is a nurse and just thought she had fibrocystic breasts and it turned out to be cancer. She had, had a normal mammo the year before and waited to have it checked. Don't want to scare you, but it would be practical to rule it out and then see if you have some kind of infection causing the lymph nodes. This is one of those things that waiting and hoping it goes away, is not a good plan. My friend has been so graceful for the surgery and treatment, and there is so many treatment options now. More women survive this now then don't. I'm praying for you and hope that it turns out to be nothing worrisome!

Tinks, your symptoms sound like they could be caused by a couple of different things. Have they done a skin biopsy for small fiber neuropathy yet? Then numbness, burning, can't touch the skin, electric shock, not sweating are just some of the symptoms of it. I'm guessing they already checked your large fiber nerves with emg and they are normal. That is classic SFN. The small fiber damage can be caused by several autoimmune diseases. Lupus presents with the kind of skin and mouth lesions you describe. It also can cause sfn. Also if you feel sick like your catching something and don't run a fever, that could be the sign of an immune deficiency. Have you had your wbc checked when you feel that way? Quantitative immunoglobulins, rheumatic panel, comprehensive cbc, metabolic panel and screening for other autoimmune diseases are some of the tests you should ask for. The shaking on standing sounds like the symptom erika in orlando had, and that is caused by stiff persons syndrome. I don't know what TOS is so can't help you there. Dark red rings where? You can google the things I've mentioned above and see if you fit any of them.

That's also the weird thing for me too! I had positive ana for years, years ago. Now that the skin biopsy showed it though my ana is negative. John hopkins has a lupus site, on there it said there that there can be negative ana, also sometimes the lupus is just the skin type and doesn't show systemic. That is funny too, lewis said something to me too about another patient when I mentioned that masto stuff was one of the causes I heard of from dinet. I saw Dr. Pasha for GI. I'm afraid Lewis thinks I'm a bit of a pain, even though I've only seen him once, I've been bugging their office about the infection rate, not that I was there to be rediagnosed. In his doctors note it sounded like he was trying to undiagnose the hypo gamma, which I had to challenge because he was basing it on half the dose of IVIG I was on, so totally picked apart his doctor note and asked him to make corrections. What did he make of your low immunoglobulins? Have you read all your labs and doctors notes from mayo. I love that you can just go to medical records and getting everything at mayo and other hospitals. They just give it to you for free, unlike jumping thru hoops with some doctors offices and having to wait for them to get your results before you can see the labs. Hey, it couldn't hurt to ask your dermo to do the skin biopsy. My dermo, though took one look at mine and said do you have lupus, so it must have a distinct look. I can't see it cause it is on my head, but I did google images for skin lupus and it can look just awful. Yea, I don't show obvious signs of infection either, I will just feel sick, like I have a fever and or have gi pain or other kinds of aches. What I found out though if you have an immune defect you can't mount a normal defense and a robust fever. My are really short and low grade, if I get any. Like this week high wbc, but no fever. Well I'll keep you up on what happens out there. I know you plan to do the same. It will probably help others on dinet. That's a really good thing!

If he is a neuro that may be the same doctor that diagnosed erika in orlando as having stiff person syndrome. She mentioned she was trying to get in with him. When she mentioned she had been diagnosed she just said neuro, so I don't know for sure it is him. I do know they know how to diagnose autoimmune causes of pots though based on her experience. Last we heard her treatment plan was working.

Hey, issie and Jana, I'm out at doing testing a scottsdale mayo too! Had the best colonoscopy/endoscopy this am and came out of anesthesia feeling great, which never happens. I get hypotensive, hypothermic and nausea. Don't know results yet. But hopefully they are looking at all the issues that are causing my GI symptoms. The SFN, immune deficiency, and possible lupus. So issie, I just had a lesion on my scalp, that my local dermo biopsied. Did they biopsy for your aloepcia? Turns out mine was the result of an early lupus lesion. I am also presenting with the malar butterfly rash. I used have a +ANA for years, but now it is negative. This type of lupus can cause alopecia and I will be getting a steriod injection as well. I went to a dermatologist in chandler if you want their name. Also when I looked up symptoms of lupus, the autonomic neuropathy is a symptom, so are GI symptoms and high platelet counts. I have all these. This condition is also a companion partner to the immune deficiency. I don't do well with steriods, so plaquenil is another remittant that may work for this. Do you take a lot of steriods? You said you had low IGG, what did Lewis say about that, that is one of the area's he treats for. I'm seeing him too, only once so far. I was sent in to infectious disease by my neuro, because I keep getting infections, they wouldn't see me and sent me to him. I think he thought I was coming for a reevaluation on hypogamma and didn't realize I was there for infection control, so I've waited months, and of course I get another infection and elevated wbc days before today's procedure, also have thrush and yeast infection. So anyway, at least they are seeing what has been happening and when he once he saw I was supposed to see infec dis, they have finally set an appointment with them, so let's hope they don't cancel me again. I think mayo has been a mixed bag for me as well. I'm ready to hire a patient advocate, they have a couple here in the area, and a friend has suggested I see the one she knows. Hey Jana did you ever get a skin biopsy for sfn and or large fiber? Well good to see you both posting again!

Before I add anything, if you aren't already doing so, please read up on dinet and or google your daughters known findings. Review all her doc notes an lab findings and understand what they mean, as you do that you will probably start to see a pattern. For example, my platelets tend to be elevated then normal, but looking back over the years there have been enough of them to now conclude something is off. The doctors you see will not have always have seen as much of her medical history as you have. You see a pattern you can point it out to them. Okay, so they didn't find anything abnormal with her actual heart? She passed the stress test? Did they check her supine and standing catechcolamines? She has been primarily hypotensive on standing right? I would have gone into asystoli too if they hadn't put the table down. I produce excess catecholamines so I go up up, before a rapid drop to syncope. They are a back up system that gets blood to the brain when the small fiber nerves fail to constrict the vessels on standing in response to gravity. If I understand right if she is not producing them that is a sign for PAF, but the question is what's causing the paf. What I can tell you from my own experience is that ep cardio's will treat symptoms, but if the defect is not of the cardio system they don't usually look to other cause. I also so those specialists, and interesting I also had a positive ANA for years. While rheumy's don't know much what to do with a positive ANA finding, it is a sign that something is off with the immune system. It is commonly found in people who have defective immune systems, so immunologists look at it differently. You said she was really sick from the flu, do you know if they checked her "quantitative immunoglobulins" at that time. Has she mostly been healthy with few viral or bacterial infections? Also what tests did the neurologist do? Did they test her large fiber nerves (emg) and her small fiber nerves? Not all immunologists and neurologist are the same. The ones to see are the ones that specialize in subspecialties of primary immune deficiencies and autoimmune neuromuscular disease, skin biopsy for small fiber damage is the best test to determine that type of damage, find a neuro in your area that does them. For right now though it is good that your doc is helping to manage those symptoms in an effective way. Hope this info opens some new doors for you.

Hi, I've been following your post about your daughter and praying for you all. I'm so glad to see she is stable for now. I'm also so glad you did not listen to that one doctor about her having an eating disorder, and took her to someone you trusted. Always trust your instincts. I'm fairly sure your doctor new the other one was full of it, but he had to diagnosticly rule it out, because it was in her record now. He did right by you, but had to put her through things he probably wouldn't have. When you get your breath you might want to go back to that doc's hospitals administrators and make a formal complaint and challenge that guy, he will do it again to another patient, if he hasn't already. What type of doctor is she seeing right now (duke)? I was also wondering if you all had done any testing looking for cause of these symptoms? Many times there are underlying illnesses causing the presenting symptoms like pots/ncs, PAF can be a cause of the other symptoms. I don't know if you have done any reading on dinet's main page, but there are so many conditions that can lead to pots and syncope. The reason I'm asking is because depending on the suspected cause, you would need to see different types of doctors. For my diagnosis which are a small fiber neuropathy, immune deficiency and pcos/metabolicy syndrome, and yes they all are related to each other triggering my different symptoms. I see a neurologist who specializes in autoimmune neuromuscular neuropathies, an immunologist who hopefully will be helping me with my infection rate, an endocrinologist that deals with metabolic dysruption caused by the small fiber damage to my gi tract and a cardiologist that did my TTT and manages my BP/HR swings and makes sure I'm not developing further cardiac problems. I also have a primary who I hope will be able to manage some of this once I'm finished with the diagnostic stuff. She will be taking direction from the specialists. Your Duke doctor might be able to do that for you with your local doctor. When you mentioned she was having gi issues to along with the pots and syncope and made we wonder if she is suffering from an autoimmune neuropathy. There are different treatments for these type of causes directed at cause and not simply treating symptoms. If she was also hyper mobile you might look at EDS, or if she gets a lot of infections/colds you could look at a primary immune deficiency, those are just a few causes, the list is long. Though I've been sick for a long time, my diagnosis has been evolving and I believe finally is correct, I'm now 54. It took way to long, I have hope for your daughter she is still young and with the right diagnosis and treatment can and will fair a lot better then I did, better to know sooner rather then later. She will also benefit from the active research now going on, much of the research is still very young compared to other illnesses. I hope this answers your questions, let me know if there is any other way I can help.

Hi, has she been checked yet for small fiber neuropathy? Skin biopsy is gold standard. Those nerves control all autonomic function, including gi, cardiac and blood vessels nerves. Does she sweat? I have similar issues too. Fiber actually slows me down more, I also get bouts of loose watery. I've noticed that when I drink Ice tea, or drink "100% black cherry juice" things will move. Also black cherries are in season right now, try to get her to eat a bunch of them, think they work better then prunes and test better. Ya kinda gotta wonder how good a test using eggs is. They are pretty easy to digest, so I would think would move through easier. I know there is one they do with meat, which is harder to digest.

I just tried to find the post that he isn't accepting new patients. I didn't see anything back to april, I did see though that he doesn't accept pediactric patients. So maybe that was it. He just moved his practice to scottsdale mayo this year, so I think he would still be seeing patients. I'm seeing docs out there right now for CVID and gastro problems. I already see a neuro in phoenix, but was thinking I should see goodman too. I'll let you know if I have a problem getting an appointment. It might be a bit though I'm waiting for lab results and f/up appointments.

I just tried to find the post that he isn't accepting new patients. I didn't see anything back to april, I did see though that he doesn't accept pediactric patients. So maybe that was it. He just moved his practice to scottsdale mayo this year, so I think he would still be seeing patients. I'm seeing docs out there right now for CVID and gastro problems. I already see a neuro in phoenix, but was thinking I should see goodman too. I'll let you know if I have a problem getting an appointment. It might be a bit though I'm waiting for lab results and f/up appointments.

These levels are associated with primary immune deficiency diseases. Mainly lung infections. I don't know where you live but, you probably need further evaluation by an immunologist who specializes in immune deficiencies, a regular allergist won't do. Asking you if you get a lot of infections, isn't very diagnostic. There are adequate diagnostic tests that can be done. You may have infections and feel bad, but not present with a classic fever. Many PID illness are associated with autoimmune disease as well, not all autoimmune illness fall under the category of rheumatalogy, they can also be found in neurology and hematology. Also when your immune system is suppressed you can't always mount a proper defense and so test that might show antibodies to certain autoimmune disease may not show up. I don't know your history or what your symptoms are so hard to point you in the right direction. What labs did you have done? A quantitative immunoglobulin or a sub ig panel? Ig panels can be run for specific disease as well. I have CVID along with autoimmune small fiber autonomic neuropathy. My infections were not of the lungs, so I was harder to diagnosis.

Which mayo are you going to? Rochester or Scottsdale? There is a doctor Goodman at scottsdale mayo, that some of the members see. They only have good things to say about him. I don't know much about dysfunction caused by a brain injury, but Barrow here in arizona also deals with a lot of brain injury trauma and cutting edge surgeries and treatments. They might also be helpful. Depending where you are in texas, arizona isn't as far as minnesota. There also is nothing wrong with seeking out more info to see if there is a better way to improve your daughters quality of life, don't feel bad about that. There may come a time when all that can be done or looked at and you are at the end of the trail, then acceptance and prayer. Three years is still early, nothing wrong with pursuing this a little longer.

If you read up on small fiber peripheral neuropathy it could be that as well. Along with hypotension which usually causes the black outs and dizzyness, sounds also like nerve damage. Skin biopsy for small fiber nerve damage will diagnosis it. The doctor to see is a neurologist, but not a regular one, but one who treats neuro muscular autoimmune disease. There aren't a lot of them, but if you call and ask if they do skin biopsies for small fiber neuropathy, you have one that knows about the condition.

Erika in orlando wasn't cured. There is no cure for stiff persons syndrome, which was the diagnosis and illness that caused her pots symptoms. She had many other symptoms besides pots. Though I don't know her status and treatment course now because she hasn't posted in awhile, her initial treatment was plasmapheresis and a muscle relaxant, and she may have to have IVIG treatments too. Stiff persons is autoimmune and pheresis and ivig help control or replace the bad antibodies. These treatments only last about a month and have to repeated most likely for life. I have had both for small fiber autoimmune autonomic neuropathy and an immune defeciency called cvid. My symptoms totally improved on pheresis, but I got anemia from it, and am now treating with IVIG. Ivig takes anywhere from six month to two years to reverse nerve damage and helps right away with helping your body fight and prevent infections. There are many ivig products not everyone tolerates every product. I have had to switch mine to a non glucose based one as I had metabolic syndrome/pcos and the treatment made me prediabetic. I am now improving that since the switch, but I still have to loose the weight I gained during the initial treatment. I guess my advice would be to remember that pots can be and usually is a symptoms of some other underlying condition. Those conditions are many. Finding out and treating the right condition causing the pots symptoms should improve your health or at least stabalize it. Some conditions are serious if left untreated. Only focusing on treating the pots symptoms could mean more serious issues go untreated. Erika would have eventually died from untreated stiff persons syndrome.

I have this problem too. I'm one of those people that swing go up hyper/tachy on standing and go down hypo/brady at rest. It got was when they had me on atenolol to lower bp during the day. It lasted to long and caused ever lower BP. When I would drop that low I'd wake up sweating, I think it's the bodies attempt to keep your blood moving because I would be rigid as a board all muscles contracted. Since then I get them when I have an underlying infection going on. I have small fiber autonomic neuropathy and a primary immune deficiency. Does he ever feel like he has the flu or stomach bug or fighting something off but no real fever? I also think (N sweats) this can happen if glucose is dropping or rising during sleep. My glucose though normal goes up during sleep, the opposite of what it is supposed to do. So a few things for you to ponder, mast cell with the flushing and hives and such could be it too.

Yes. Common variable immune deficiency can be associated with autoimmune small fiber neuropathy, and other autoimmune diseases There is a form of autoimmune thyroid disease as well.