arizona girl

Hi Dave, my cardiologist ran a rather extensive diagnostic panel from the "Health Diagnostics" Laboratory. They have a website and don't charge me for what the insurance doesn't cover. It included the test for mthfr along with rarely done inflammatory markers. I turned out to be homozygous for it, the worst form. I can only process 10% of the folic acid or any other medication that follows the same pathway for conversion to the forms the body uses. What you can't process stays in the body and becomes toxic. For example if you have an autoimmune disease you can not take methotrexate, because it follows the same pathway. There is a lot of research going on with it. The original studies center around birth defects and recurrent miscarriage. They are now finding it associated with cardiovascular inflammation and elevated homocysteine. It is also being studied in autoimmunity, autism and bipolar disease. Folic acid is everywhere, especially any flour products and most multivitamins. I sometimes wonder if these gluten allergies might be due to the probably low quality vitamins that are put in all the enriched products out there. The good news is that it is not in organic products. I now take the active form of b vitamins.

Lenna that is wonderful news about your son. You are right we all come to dysautonomia from many different places and defects. If we are lucky enough to find those defects, we can have a better quality of life. Yes we can have more then one defect going on at the same time. I do! Maybe no cures yet, but treatments that can manage it are better then nothing. I have an mthfr gene defect and primary immune and autoimmune disease causing my dysautonomia. I just found out the hard way that my treatment plan was working for me, if I don't deviate. It was an unintentional experiment where I pushed my infusion schedule around, along with my autoimmune drug being reduced and not treating the mthfr defect with methylfolate after the samples ran out. When I was on everything on schedule my labs improved significantly and my symptoms were better. When my plan was disrupted I had a set back and my inflammatory markers and symptoms got worse again, including getting an infection. Infections were treated and I'm back on plan. It will probably take a few months for my meds to get back up to speed. The silver lining is that at least I now know it was working as long as I stay on plan. I hope you all get to the point where you are past the difficult and long diagnostic process and get finally to a treatment plan that works for you.

The patient had lymes disease. Actually if you follow the link to the his standford webaddress he has several other interesting articles.

Dr. Jaradeh one of the physicians on DINET's list, who has moved to Stanford from Wisconsin, discusses along with one of his patients our mystery disease - dysautonomia and it's possible causes. http://med.stanford.edu/ism/2013/february/autonomic-0211.html

Might I suggest you e-mail her the link to our "changes" video. It is pinned up at the top of this forum. Ask her to watch it, as she might find it will answer some of her questions. I'm not sure why you had heart surgery, but that does add another more difficult layer and means you do not have just plain old POTS with no known cause. My cardio told me last year, there is no cure for what you have, but we can manage it. It helped put it in perspective for me and helped me accept that I have what I have and it is what it is. At least I don't look sick. Most of us don't, but it also gets in the way of getting diagnosed quickly. It sounds like your boyfriend is doing the best he can. The next time she quiz's you a possible response could be something like "thank you so much for asking, appreciate you caring so much, I wish I had the answers too. If your frustrated for me can you imagine how I feel. I do the best I can. I'm not my body though and I still have many things in my life to be joyful about. I've used this before and they usually don't know what to say after that.

After being offline for a few days I thought that this deserved a bump. Of course one of my best medical stories was finding DINET, which helped me find the right doctors to diagnosis me. I can't say enough how important Dinet has been to me over the years. SouthG, CVID stands for common variable immune deficiency and is one of several primary immune deficiencies. He tested me for small fiber neuropathy/skin biopsy and some rarer causes of autonomic dysfunction. If you search my posts I've listed that information. Dr. Levine is my doctor, if you want to narrow it down. My doc did a skin biopsy not a lip biopsy. It is done on the lower leg and upper thigh and looks for nerve damage. The small fiber nerves are the nerves that control your autonomic functions. If you look thorough DINET's main website and you know what your set of symptoms are, the info there will help point you in the right direction. That was how I found that small fiber neuropathy most closely fit my set of symptoms. We can't always find an underlying cause for dysautonomia, it is sometimes idiopathic. If that is the case then we have to rely on just treating symptoms to manage it. A lip biopsy is for sjogrens syndrome. I also had that done by endocrinologist.

So Happy we have our forum back. I sure missed not having the connection to all my fellow members. Let's get talking again! Thanks to all the administrators and our new web designer for putting it back together again.

I know most of us have stories about bad experiences we've had getting medical care. Those experience often get more of our attention than our good experiences. So, I think it's time to share a positive experience we had when seeking medical care. A recent positive post gave me the idea. So let's share our happy stories. I have three. The first time I saw my neuro and started doing my dog and pony show and explaining what pots was and how I'd failed my TTT and how it could have another cause. It became clear to me as he nodded that he not only knew what it was, allowing me to stop having to endlessly explain and convince, but then said to me "Yes, the causes of POTS can be endless. Let's test you for the most concerning and common and we will go from there." He then ordered labs for many of the scarier tests to rule them out and ordered my skin biopsy that came back positive. He is the one that also uncovered my CVID. If it hadn't been for him I'd still be fighting to get the care I need. Before, I left my appointment which was sort of short, but adequate. I said to the doctor, "Well that was refreshing." It is amazing what you don't have to feel, when someone actually gets it. This week I had a new doctor appointment with a female Internal medicine doctor. One of my other doctors (which was also positive) said "You might want to find an internal medicine doctor, I think you are too complex for a family practice doctor and you probably know more about your condition then most doctors." Back to the new internal medicine doc. The first thing she said to me was I'm here to help you and I can't do that if I don't hear you." "I'm just meeting you and you know much more about yourself and medical situation then I do." I will understand more and more about you as work together on your care." While we still have to see how it goes with her, it took so much of the anxiety out and made me feel hopeful that finally I won't be having to manage all my specialist by myself anymore. Which is HUGE to me! Happy posting!

So GOOOD to see you Rama! Would love to hear how your doing. We miss your imput! I tried to send you a pm, Looks like your box is full. Would you mind getting in touch with me and let me know how you've been. I hope you've been offline because your doing better. Thanks for explaining stuff so clearly to Tinks.

Hi Rachel, I forgot where you live. I live in Arizona and I see a doctor at Phoenix Neurological Associates. They have a website you can look at. They specialize in autoimmune neuromuscular illness and Dr. Hendin sees peds patients with seizure disorders. He successfully treated the daughter of one of our friends. She is now driving again. My doc is on medical leave, but any of the docs there are good. They have the ability to test for rare disease and do skin biopsy, if you haven't had that done. They also have an infusion center where they treat everything from crohns, als, ms, cipd, etc. Also Barrow Neurological institute is here and they excel in brain disorders. The Mayo here also has the beloved Dr.Goodman. I don't know if he sees peds though.

Hi Alex, So glad to hear your first day of infusion went well. Sorry about the headache, they do happen. Sound like you did better then I did on my first go with it. Hope today goes easier and you come home with no headache or side effects. It is important to not overdue and get lots of rest the next few days. You can get side effects up to 5 days post infusion. Drinks lots of water! Take care!

This recent small study showed that midrodrine was more effect in patients considered neuropathic vs hyperandrenergic. http://www.clinsci.org/cs/imps/abs/CS20130222.htm

Hi all, Well here is my experience with this particular problem. Certain bp meds can stay in the body too long and drop you to low when you go to sleep at nite. When this was happening with me when on atenenol I'd sometimes go into the 40's. I would have a terrible nite sleep and would wake up biting my lip with my arms and legs rigid and in terrible pain with a headache. I believe the rigid tightened muscles was my body's way of trying to move my blood because I was pooling with such a low heart rate. The other factor is what is happening with your bp when going supine to standing. I turned out to not only have a rise in heart rate, but a huge rise in bp. BTW, which was missed because I was starting in the 50's and only hitting the high 90's-110's (a huge swing but not caught as easy as those with normal hr that then goes 120 and up) I was classified as hyperandrenergic pots with syncope after a ttt and then a supine to standing catecholamine blood test. My norepi almost tripled on standing. Also my BP would continue to rise the longer I was upright and quickly dropped when supine. Dr. Grubb who diagnosed me switched me to labetalol a short acting low dose alpha beta. I couldn't use clonidine as my body in the past had an addictive reaction to it requiring more and more to keep me down. The labetalol has been very effective, I can take more or less of it as needed. I also avoid bp drugs a few hours before bedtime. I don't drop so low at nite now. However, my dysautonomias are due to several factors including cvid, hashi, UCTD, small fiber autonomic neuropathy as a result of those conditions, pcos, and lichen. Managing and treating all these co-factors has improved my autonomic function, but it is a tuff juggling act and I'm certainly not free of pain, fatigue or able to skip down the road yet. We do the best we can with my treatment plan. My hope is that we've stopped the decline and I will continue to see improvements, be they small or hopefully large. Hang in there all. The diagnostic process the disbelief, long waits for doctors and results can be the most stressful part of managing this. You will though eventually be on the other side of this, hopefully sooner then it took me. Those of you with low blood pressure and hypotension on standing, may have to use a very different treatment plan then those of us who have a rise in BP. Many meds just treat symptoms which is great, as long as you don't have dysautonomia secondary to a primary illness. Meds may control symptoms for a while but may also cover up symptoms of an underlying illness. They can also be used well in conjunction with treatments aimed at primary cause. But, figuring that out is the hard part as many illnesses can effect the autonomic nervous system. Don't quit until you are satisfied you and yours doc have figured it out and you feel you are being managed as well as can be expected. Stay Strong! Take care all!

Thanks Alex. Well I did indeed have an infection. So warning to those getting ivig don't push around your infusion schedule. Because of travel for a wedding I ended up only having two infusions during an eleven week period. I usually get it every 4 weeks like clock work. Ivig only last in the body about 3-4 weeks, so next time if I have a conflict I will get my infusion early. My neuro's office advised that my infusion wouldn't artificially elevate my wbc. My infusion wednesday was painful but it may have been because I also had a fever of 99.6 which is high for me. I almost never get one even when I'm sick, so I guess that is a red flag for me. I wonder if the pain may have also been because I had infection on board when we started the infusion and the ivig went to work attacking the antigens. I ended up having a bad headache thurs and friday. Went to outpatient lab at the hospital on friday after I lost my cookies trying to go to my PT appointment. I have a standing CBC from my primary and was able to get a copy of it and take to the outpatient hospital lab. Just a tip for anyone else that needs labs done right away. Going to the hospital is the only way to get same day results. You can even get them yourself once they post by going to med records. Hospitals do there blood work fast. The wonderful lab tech made sure it went straight to the urgent care center I go to when my doc isn't available. Yup it was elevated and I then had to explain to that doc about cvid and that rocephine shots are effective in controlling infection for me. He did give me the shot, but I still had convince them it was the right thing for me. I'd already received the shots there before from their other docs. They kind off want to know where my infections are, and to be honest we mostly don't know for sure. I just know that if I don't get non oral antibiotics on board my wbc rises fast and I feel really sick. Any uncontrolled infection when you have cvid can cause death. So nothing to mess around with. I do feel better today, headache is gone and zofran stopped the nausea. Well lesson learned on what I can and can't do with my infusion schedule. I least now I know it is effective at holding back my infection rate. I think I'm going to leave my current primary care. I couldn't get them on thursday and they weren't available on friday to be seen and then they never renewed my cbc which they told me two weeks ago they had done. It is crazy what I had to do yesterday just to confirm I had an infection in a timely manner and not have to wait until monday for results. Thanks all for listening to my venting. I know that more of you are getting ivig and I share with you as a cautionary story. Hope it helps you avoid my mistakes.

FYI, small fiber nerves can regenerate if the antigen that is harming them can be stopped. It takes six months to a year according to my neuro. In my experience I would see I've seen improvements, but if I withdraw treatment my body goes back to attacking itself. Gold standard testing for small fiber neuropathy which includes the autonomic nerves is the skin biopsy doing all three skin biopsy qsart and qst give you the best chance of catching it as it can be patchy. Hey Looney. I'm in more pain when I have an infection brewing. With his immune issues he may have a low grade infection somewhere. Mine are are hard to pin point probaby gi. I usually feel hot in parts of my body. I also usually have a very low grade fever when this happens. Like 99 to 99.6. It happened this week as I'd delayed my infusions the last two months because of travel = wedding.

Maybe one of you smart ones can help on this. My infusions were delayed twice in the last two months because of having to fly to a wedding. So, my questions since the infusion nurse documented a fever prior to starting ivig and it went up during ivig, it appears I once again have an infection. I also had two girl infections at the same time two weeks ago. I have had almost no fevers since starting ivig two years ago. Prior to that I had low grade daily afternoon ones. When I suspect an infection I have a standing CBC to see if my WBC is elevated. However, since I had my infusion today, do any of you know how that would effect my wbc if I have it drawn tomorrow? I hope I explained that okay. You can pm me if you don't want to give med advice. I'm just wondering if anyone has a general knowledge on how infusion effects lab draws the next day.

I know this is what you wanted Alex, so glad to hear it. Seems like Canada is ahead of the curve on considering this treatment. Love to hook your doc up with my doc here in AZ so they could compare notes. It is harder to get ivig approved in the USA. I've now been on ivig over two years. I get monthly infusions. There is also subq available, it has less side effects and you can give it to yourself after training, but it has to be done once a week. I can't stick myself, so I've stayed with the ivig. As some of you know I was only approved as they uncovered I had CVID a primary immune disease which ivig was first created to treat. My monthly dose is higher then the avg cvid patient because of my autonomic neuropathy. So, it is treating both. I believe it has stopped my decline, but has not cured me. My infections and low grade fevers almost never happen anymore. Tips for infusion! Primary immune has great tips. However, this is how I manage the ivig flu and headache. Even if you do get them, I feel those side effects are worth it. Just watch out for the symptoms of aseptic meningitis. I now get my infusions at home, so it changed from the infusion centers protochol. Premeds are important. I take two 500mg of tylenol before. I also take benydryl 25mg to start. If you don't have to drive yourself taking the benydryl on the way there will keep you awake enough to get started. IV benie knocks you out faster but is out of your system faster, if you do have to drive yourself. However, for me it burns bad going in and they have to give it real slow. They never added it to iv fluids, that might have made it easier. IV steriods are pretty standard to help stop reactions. They do work well for that. I however could not take steriods because I'm prediabetic/pcos and my weight blew up with it. So watch for weight gain, unless your already skinny. At home I now have hydromorphone and diazepam, never taken together, but they have pretty much stopped my ivig headaches if the other meds don't work. I take one or the other if I start getting one. Which for me can happen up to five days post infusion. I wait to add the other till the first one is out of my system, if the first one hasn't worked well enough. Hydrate, hydrate, did I say hydrate!!! In the days before and after. I use smart water as it has electrolytes without the sugar. Infusion rate. Most hospitals have machines that tirate the speed. In my opinion it should start very slow only working up to 25 in the first half hour and it should take an hour or more to even reach final infusion rate. This part should never change, the final infusion speed my be increased with tolerance. After two years I still am only at 125. I would never go higher then 150 anything over that is crazy IMHO. Some people can do it though. Just remember IVIG will help it will not cure and it is out of the body within 3 to 4 weeks. I notice as it wears off. That can vary per person because everyone's metabolism is different.

Hi Jeff, Welcome back. I think we all appreciated you sharing yours and Brittany's story and your tips for coping with Dysautonomia. I loved your sister's movies and though I know she was acting you could still see her for the sweet adorable person she was behind her character. I was aware that it wasn't the dysautonomia that took her. My own diagnostic process has shown though that there may be a possible connection when the dysautonomia's cause is secondary to another more serious illness. In the last few years I was finally tested for a primary immune deficiency called CVID. It is often associated with other autoimmune diseases that are difficult to diagnose due to the bodies inability to create the typical auto antibodies used to diagnosis those diseases. In my case I also developed small fiber autonomic neuropathy diagnosed by skin biopsy, due to my body attacking those nerves. These conditions seem to like to party together. Primary immune diseases often go undiagnosed and cause uncontrolled infections like pneumonia that can lead to a rather sudden death. I had lots of infections over the years and consider myself lucky that one of them didn't get bad enough to take me. I now get monthly ivig infusions to replace the defective ones my body doesn't do a good job of making. I also am of italian decent and found out I was homozygous for a gene defect called MTHFR, which is looking like it may also be a factor in my co-illnesses. We are fortunate to live in a time where the science is evolving on cause and that we as patient's can help each other and not just rely on a doctor that may not be aware of the confounding nature of dysautonomia. I'm grateful you and Brittany's story has helped create awareness. I wish we'd been around to help her when she was alive.

I'm not sure, I haven't heard of it. However when I was getting pheresis, if I had to stay on it they would of done something with the veins or arteries and some kind of access on the underside of my forearm. It would be under the skin and not visible. I can't remember what it was called. But the long time pheresis patients I met had them. I think they are suppose to be safer. BTW are they keeping an eye on your total quantitative immunoglobulins and blood counts for anemia. They can drop, along with the increased potential for infection.

Oh Lm, I know this has been tough! It is surprising how often these immune deficiency diseases are missed. Any one that knows enough about it, would see that it is obvious given your son's medical history. The good news is he has survived all these infections with this on board. I hope you took time to go to website I sent you and read more. Read about the x linked male forms found there too and see if any of them fit better. When an infection is on board the heart can race enough to be considered pots. At this point I wouldn't worry about the antibiotics, when you have a form of this, antibiotics are your friend. They just need to be rotated to help avoid any potential resistance to one. Infection must be treated aggressively, when one has this defect. Especially if he ends up not being a candidate for ivig or subq. One of the things I do because I don't run much of a fever if one at all, when I have a suspected infection, is I have a standing cbc order, to keep an eye on my WBC. If I have infection symptoms and it's elevated, we go right to a rocephine shot or two, to knock it down. We don't even try to figure out where the infection is. Between the ivig, other autoimmune treatments and antibiotics when necessary, I'm being managed fairly well. I still feel like crap often, but not enough to do much else about that. It is interesting that you mentioned croup. My brother had that terrible as a child. I also see signs of this illness in my sisters. They don't have insurance, so they haven't been screened yet. I can't help but feel there is a genetic bases to much of this.

HI LM, Alex posted first with some good info for you. I know I've posted to you before but I don't remember what I said. Even though this is confusing right now, you all are making progress and now have some results to work with. It sounds like your doctor knows what she is doing. BTW does he get infections of any kind, if so what kinds? The vaccine challenge is going to show where his immune system is responsive and where it isn't. So good test, it will help direct treatment. I have cvid with low igg and at one point no igm. Most of the ivig products are almost 100% IGG. So it wouldn't replace deficient iga and like alex pointed out there can sometimes be a reaction if there is any iga in the product, as one of the reasons the iga can be low is due to autoantibodies against it. So it would attack any iga that enters the body. Not everyone reacts and if he is getting a lot of infections it could be used with caution, I think also the subq form doesn't create the same kind of reactions. Here is a link that discusses this in greater depth: http://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/selective-iga-deficiency/ Try not to be too overwhelmed, in time you will understand the mechanisms going on, and will be in a good position to help make the right treatment choice for your son. With the results and the knowledge you gain, there is hope that you will better be able to help your son manage is illnesses.

I just wanted to let you know that yes ivig is a blood product or a biologic. However, it goes through very significant cleaning and screening processes. More so then the blood one would receive during an emergency blood transfusion. Also it is just the immunoglobulins from the blood that is used. I've been on it for two years have never had a problem. In that time there have been no recalls or notifications of problems with ivig. It is considered safe or the FDA would not allow it. Of course no blood product can be consider 100% free of an unknown antigen that they can't test for yet. The fact that it comes from many donors is how and why it is an effective treatment. IVIG provides a cross section of good immunogloblins, that either our bodies aren't producing or are ineffective on their own against autoimmune disease. Biologics are the direction the research is going on treating significant illnesses like Lupus, arthritis and neuromuscular disease. They tend to have less side effects then treatments like steriods and immunsuppressants as they help modulate the immune system without suppressing it. I understand Issie's personal choice to go another way and offer an alternative. There are some who have religious reason why they don't use blood products. All understandable reasons. When deciding to use a biologic one should read all the pros and cons. Primary immune is a good resource to answer those question regarding ivig. IVIG has saved many lives. As for me I made the choice that it was the best thing available for me, after much research. Without it I would be vulnerable to any infection I get overwhelming my body and causing my potential death. My infection rate has dropped off and I haven't had to take antibiotics in over a year. About a week after my infusion I get a physical boost in energy that wears off as I approach my next infusion. The ivig lasts about 3-4 weeks in the body.

Hey Alex and Kim, I'm on ivig. In the usa it's not approved for my sfn, but it is for the my cvid. I also have 3 autoimmune diseases. I've been on it now about two years. There are lots of tips on how to have it infused at http://primaryimmune.org. There are many brands of ivig on the market I'm on privigen. If they offer carimune brand refuse it, it is the one that can cause kidney failure because it is high in glucose. If you have metabolic syndrome pre/diabetes it is a no no!. I know I was first put on it, it was awful. Privigen has been a walk in the park in comparison. It is very important that you get the full immune deficiency workup before starting ivig. If your iga is involved your body will react to ivig. You can read more on that at primary immune. It is probably a good idea to have your CRP, HS-CRP, MPO and any other inflammatory markers run. You will then have a baseline on the inflammation. My markers are dropping significantly. I'm looking really good according to my labs, though they are still not normal yet. I think the two biggest factors on having a good infusion experience are: A slow rate of infusion not more then 75-100 to start, the right brand for you, and the proper premeds that will keep you from having the ivig flu and headache. Not fun, but it is worth those few side effects. IVIG has improved my infection rate and some of my autonomic symptoms. It is however not enough to control all the immune problems. I still have to take glumetza for the high insulin which is probably tied to my high norepi levels on standing and the ortho hypertension/tachy. I take T3 for the hashi, plaquenil for the udct and tacrolimus suppositories for the Lichen Planus. We are still tweaking my treatment plan. I've improved, but I am not cured, unless something new comes out I will never be cured. Well maybe a miracle from our higher power. I haven't been on the last 3 autoimmune meds for long enough for them to have their full effect. So I am hoping for a bit more improvement. At the least hopefully the treatment plan will keep me stable and I won't decline further. I will be on monthly infusions for life. I was also first on plasmapheresis and had a rapid improvement with that. It is hard to stay on though and I got anemia and infection while doing it. So be realistic about your expectations, ivig can be a wonder, but it won't always give you 100% improvement. Any improvement though is better then none. Make sure your read about what side effects are serious, so you recognize them should they happen. I'm happy to answer any other questions you might have, from my experience.

I'm glad you found out what is wrong, sorry that it is MG. Now that you know though they have many ways they are treating it now. Is your neuro a specialist in autoimmune neurmuscular disease? They know better how to manage this. My neuro treats MG patients and I met a few of them at his infusion center. I'm not surprised at all the you have sfn and autonomic dysfunction along with it. MG is autoimmune. They are finding more and more autoimmune diseases that attack the sfn's as part of the disease process. Most of the research has focused on large fiber and other reasons why mg or other autoimmune disease happens. The skin biopsy test has really only been being used for about 10-15 years. So, they really are only starting to diagnosis sfn and not as often as it exists. It is missed a lot still. If you have sfn there is usually a cause, but it is sometimes hard to find the reason. I think you've found your reason. What are the treatment options your doctor is offering you? I think you will find that treating the MG, which may take some trial and error, will help to improve you autonomic symptoms. So far there are no cures for many of these autoimmune diseases, but as one of my doctors said they can be managed. I think she told me that, so I would be realistic about my prospects. It is hard when we don't have all the answers or a good treatment plan to not let it take our joy away. I've learned I'm not my disease and I refuse to let it rob me of the good stuff in life. Not that there are times when it is still a challenge. Take care!