arizona girl

Hi, I have pcos but don't have the hair, acne or elevated testosterone. Pcos is actually caused by elevated insulin, which then can have an effect on the other hormones, but not always there are several ways pcos presents. Those that have the elevated testosterone though will usually have the have and acne.

Both forms however still cause infertility and can lead to diabetes and cardiovascular disease.

Hi dana, The testing was done by Health Diagnositc Laboratory, it was pretty through at least from the cardiovascular aspect. The laboratory provide an explanation and treatment suggestions for all the different abnormalities it found and how they relate to each other. They already are suggesting the methlyfloate or betaine and discuss b6, b12, omega's etc, to bring down the homocystine. They even do a 45 health consult. I guess the good news though is that this gene is being taken seriously in several medical specialties now, so maybe the research will now turn to what else it causes.

I'm already on D3 for low d and already have sublingal mb12. I'm going to start that slow at 1/2 the 1000 and see how I do, my doc had already suggested probiotics, so I'll add the non dairy jarrow in. I really don't want to start the betaine or methlyfloate though till my doc and I talk and she just switched practices, so that isn't going to happen in a couple days.

What they don't say is anything about autoimmunity, which we know I also have. So I've been researching and trying to figure out if that is due to the mthfr double T homozygous that they found or is there another gene contributing to it that I don't know about yet? In the miscarriage forums a lot of those ladies have autoimmunity and the mthfr. Do I go find a genetic doctor/environmental doctor?

Also understand you can have a toxic load because your body can't get rid of stuff your exposed to because of this. So I'm guessing I need to get that checked too and maybe check for food allergies, and then address whether or not I'm processing my synthroid, glumetza and plaquinel right due to this defect. Then there is my ivig to consider too. Well that's what I'm trying to figure out, any pointers are welcome though!

Thanks for your input.

Hey, issie what type of doc is doing your autoimmune testing and what have they found in that area so far? Pm if you don't want to post it.

This mtfhr gene my cardio tested for is hard to get your brain around. I have the most at risk kind and have really high inflammatory markers pointing to the possibility of a cardiac event or stroke in the near future. It concerns me even more because my cousin has a defective gene for glutathione and she is sick like me. I ruled out vascular eds, but my sister and nephew are hypermobile. She's missing the b12 enzyme and has had menegitis three times and my nephew has vitiligo, my dad had a stroke in his 40's and has had to have two angios with 2 and then 3 stints, my mom has late onset rheumy arth, but was always sick. My other sister has adhd and had female defects of her reproductive organs and my brother who is an addict probably has bipolar and is in the wind somewhere.

My lab panels point to the cardiovascular risks, but we already know my immune system is messed up which isn't necessarily the homozygous mthrfr tt gene, so what else am I missing here!!

The only good thing is that I have lost some lbs and some of my basic metabolic numbers are lower then what they were since starting the thyroid and plaquenil, but still high. Then you add in those other high risk inflammatory markers and I don't know if they are high from cardio, autoimmunity or that I'm not able to metabolize some of the meds I'm on properly. Glumetza is known to lower b12. AAAAAAAAh!!

You still thinking about getting in with Phoenix neuro, at least they know about immunology and are able to treat if they find anything be autoimmune or immune defect? I know you said they are a few months out with scheduling. I do think though goodman is a good start to get things rolling, if you come back positive for those antibodies according to their own protochol they treat that particular autoimmunity. If they don't come back positive I think they try to treat the autonomic symptoms, at least according to forum members who have been to him.

Did you already have a ttt done? I forget what were your symptoms again? What does your rheumy think you have? My rheumy here who is also integrated and out of stanford and mayo rochester, treats with immunotherapy, depending on diagnosis.

If you go to primaryimmune.org they have a physician referral program to immunologists in your area, who test for and treat immunology disease states. That sight also talks about the different diseases states that are under that umbrella, some of them are only found in men. If you read up on them maybe you will recognize your symptoms. BTW rheumies, don't check for all autoimmune diseases, neurologists, endocrinologists and hematologists check for different ones found in their specialties.

Sorry you having no luck in texas, you would think there would be more availability there with such a large population.

Hey Jangle, let us az's know when your headed this way, so we can give you some pointers on where to stay, eat or anything else you may be interested in.

BTW, my cardio just did a genetic panel on me. I came back with the gene mutation mthfr tt homozygous. It is the riskest polymorphism of this particular gene and involves enzymes that don't process folate and b12 causing lack of mythlation and toxic load build up. It is associated with a lot of disease states. So there may be some other genetics to look into. I have a lot of inflammatory markers like elevated crp, homocystine, etc. The picture of my dysfunctionis getting clearer and tighter.

Did u get to read my last pm to you?

Hi edin, so glad you are reaching out to us. There may be a good chance that you and your mom might qualify for state/federal assisted health insurance and you may not have to wait until you are 18 to get on medicaid. I too know what it is like to not be able to afford health insurance or doctors visits. So I do understand your situation. There are lots of free community services available to you. We have something here called dial a ride.

Anyone here from texas know how state/federal medical insurance works in your state, or who she can contact for assistance on this issue? If you could help her out on this that would be great.

Edin you might want to make a new post asking your fellow texans where you can get help with insurance and transportation. We have something here called community information and referral.

I do hope you get to have your dream of riding a motor cycle, but I think you will need to get better control of your medical issues before you will be able to do that. You seem very bright in spite of the isolation you've experienced and with the internet assistance I think you will be able to get what you need.

Take care!

Oh my gosh, this is what I always thought was causing hypotension, an inability to produce norepinephrine on standing, since I get hypertension on standing an my norepi almost triples on standing. So, I thought the opposite was happening for those of us with hypotension. I'd never seen that written in the medical literature until this study.

Even though the hypertension isn't great, at least it allows me to stand without fainting. The body does amazing things to compensate doesn't it.

About Neurogenic Orthostatic Hypotension

Neurogenic OH is a chronic neurogenic disorder resulting from deficient release of norepinephrine, the neurotransmitter used by sympathetic autonomic nerves to send signals to the blood vessels and the heart to regulate blood pressure. This deficiency results in lightheadedness, dizziness, blurred vision, fatigue, poor concentration and fainting episodes when a person assumes a standing position. Symptoms of chronic Neurogenic OH can be incapacitating, not only putting patients at high risk for falls and associated injuries, but also severely affecting the ability to perform activities of daily living that require standing or walking.

Clair, hope the referral works for you. What I'm noticing even more then the HR is that your bp is dropping on standing. I'm pretty sure when both numbers are under 100 that is hypotension, which is another form of dysautonomia. That form makes it very hard to stay standing, and most usually faint.

On my TTT my bp became unmeasurable right before I fainted, it was like 0/60 and I was still standing, then all the symptoms of presyncope hit and I fainted.

I'm so glad you have rach from the uk too, to help you navigate your medical system, hard for us here in the usa to advise on that. Be strong girl, sounds like your going to need to be to get through the hurdles in your care system!!!

I've been saying "Well that's my silver lining to all this, at least I don't look sick!" Then I usually follow/up and say you know most people who are really sick don't look it, you can have cancer and not look sick until the chemo takes it's toll or the end is near.

It is funny how our society judges so much on how we look. Really, what is a sick person suppose to look like? Are our images of the sick only those in a wheel chair, on a gurney or someone that has lost weight, their hair or who has skin conditions? There are so many illnesses that you can just not see on the outside.

The sad thing about not looking sick is that it really delayed my diagnosis, even though doctors should know better the fact that I look younger then I am and that I have an upbeat personality, made it hard for them to take me seriously. Judgements made that she must have an anxiety disorder or was attention seeking was incredibly devastating every time I was blown off.

That may be why, when we actually finally get documentation that something is really wrong, that we are happy and feel validated. We are happy to know we are sick and not crazy! How crazy is that!!!!

headhunter, I bet this effects more men then you might think. Men and women may just have different ways of seeking information. I think you should feel good that your a man who is actually seeking help and support. I come from a generation where men where suppose to just suck it up and never show weakness. Many man never seek medical care even when they need it.

So good for you that your here, we do have some great men on the forum who really add to the discussion. All the guys are welcome here. It really isn't just a female issue.

So welcome back!

Sounds like you are getting the run around. The infectious disease doctor was on the right track. Go read up on hypogamm/cvid and see if that sounds like you. From the little you've told me, I think you probably fit the symptoms.

Only testing for iga deficiency does not rule out a primary immune deficiency. You can test iga for just a specific disease state and have it come back normal, you don't know what iga test they did. Totally unexceptable! The total quantitative test checks igg, iga and igm. I was deficient in igg and igm, my iga was normal. There are also sub igg tests and vaccine challenge tests that also must be done. Lets, say they did do the test right, one normal test also does not rule out a primary immune disease. Getting tested while an active infection is going on would be ideal. I tank when I'm fighting something. BTW, igg is the most common globulin that is deficient. I believe primaryimmune.org is global, so they may be able to refer you to a physician in your area.

I don't know who you saw but if I were you I'd get a second opinion from an immunologist that knows what they are doing. Most immunologist are only allergist and really don't have the right training to make immune defect diagnosis.

I also agree with you the reason you heart rate might be better when you don't have an infection is true. I always get worse when fighting an infection. Lots of conditions other then pots can cause your hr/bp to be abnormal or fluctuate. I'd insist on a further f/up on the gyn issue, that doesn't sound good either.

Sounds like your primary is burned out on you, I'd request a change of primary doctor. You need fresh eyes.

Hope this encourages you to push for more answers with your doctors. We can start to feel like we are pests and bothering the doctors, but the truth is, it is there job to help us, that is what they are getting paid for. We have a right to be listened to and respected. If you don't fight for yourself, who else is going to. Even if we are exhausted by it all, take a quick rest and get back up and go at it again. Print some of Dr. rundels research articles, and a description of cvid and give it to them. Let them know you know what you are asking and ask them to prove to you that the proper tests were done. Which means you read the test results yourself.

God speed to you!

If there is any way for you to get your laboratory testing the immunologist did I would get them. Unless you can see those labs, you really don't know what they tested you for. You actually are having even more infections then I did and I was diagnosed with an immune deficiency. There is very specific testing to determine this and if the right tests aren't done then it can be missed. You have a lot of the same symptoms I had with the fever and all. I'm sorry I know how crappy you must feel.

There is a website called primaryimmune.org, please go their and read about the different immune disorders. I have hypogamma/cvid. They also have a physician referral program. You can also google cvid (common variable immune deficiency) or hypogammaglobulinemia and read the articles on this. Anything by Charlotte Cunningham Rundle is good. There are some cvid support forums to. I think you will find that you recognize yourself after reading up. I do not agree with your doctor that you should stop looking. If you do indeed have an immune disorder, you could get an infection that you might not be able to fight off. Pus is a sign of infection, so what does no bacteria mean!!

Do you have to stay with the primary doc you see and does everything have to go through that doctor for a referral? Don't know how things work in your country, but I would say there must be an appeals process of some kind. One last thought did you see a genetist for the hypermobility diagnosis? There are few forms of that or EDS the other name that blood work can be run, including the most serious one called vascular eds, that form should be ruled out and that can be done with a blood test.

Hope this is helpful, and not overwhelming, please don't give up yet, as sick as you are, my gut says the docs need to keep looking.

If your bp cuff has memory and keeps the readings, bring it to so you can show her that too. You may be right about the EDS causing your symptoms.

The infection issues though may be something else, especially if you are ending up in the hospital. I do have a primary immune disease called hypogammaglobulinemia/cvid. Do you know if your immunologists did a total quantitative immunoglobulin blood test on you?

Sorry to hear that, in the US it is our right to have all records. I'd still ask the doc to see the report and see what she says. The receptionist could have been wrong. Looked at your chart, that will be good to take to your appointment. You actually look like you are going hypotensive on standing and you are getting a significant increase in heart rate. When your baseline hr is low to begin with at 60 and you hit 100, than that is a 40 pt increase. Mine was missed because my baseline was in the low 50's and though at times I would get into 120's I was usually between 98 and 110. Which can look normal until you compare it to baseline.

Are you taking that supine bp first thing in the morning when you wakeup before you move while still supine? Are you only in a wheelchair because you get ill on standing? Is there another reason?

I'd get a copy of the full ttt report yourself. If you post a description of how your ttt was done, some of the members here should be able to tell if it was done effectively. Not all ttt are done equally! Even though mine was abnormal anyway, I was not given enough time supine to rest and be quiet to get my proper baseline.

Let us know how monday goes! Keep your chin up even if it doesn't go as you hoped, most of us have had those kinds of appointments and pushed on in spite of the there is nothing wrong with you statement. If you are lucky diagnostics are a sprint, but for most of us it has been a marathon.

Take care now!

Well I'm hopeful and at a point of acceptance. Don't know at 55 if there will be a cure in my life time for what is causing me to be ill. Don't want to count my chicken to soon either. I believe I am turning the corner and my new treatment plan of about 5 months has stopped the progression and has shown improvement in labwork and symptoms, still have a ways to go though. I am grateful that there are established treatments for each of the several underlying causes, take your pick as to which one or the combination of all of them are causing the autonomic symptoms. I feel lucky, because they could have found a disease state that wasn't treatable. So, I am grateful that they all are treatable. Without the treatment plan and meds I'm on now, my quality of life would have continued to decline, what I have like a diabetic will require treatment until my time comes.

I've come to acceptance that this will be with me thru my lifetime, but I am always hopeful that god or science might find a cure. Sometimes there is peace in accepting what is, is what is. Yes, I have fought hard for answers I now have. The fight to get those answers was very difficult, there were times I did give up, only to get worse and be forced to put on what I call my warrior hat and go fight for answers again. There are times that even though you do feel like crap, you just need to take a vaction from it and yourself.

Had I stopped seeking, I would be worse off, because everything I've found requires treatment to manage them. There was a point after many years of there is nothing wrong with you, that they found things that I'd never heard of and weren't even on my radar. The last autoimmunity diagnosed, I was like either I'm going to never stop crying or I'm going to just start laughing because at this point it is ridiculous, how many autoimmune diseases can one person have. I'm grateful to be past the worst of all that now. I am getting my joy back if not all my energy. You don't have to be well to be joyful.

I hope to continue to post reports of improvement, so you all have hope that it is worth the fight to figure out what is wrong. My hope is that all of you will get to figure that out much quicker then I did. Early treatment intervention would have kept me from getting as bad as I did.

So do what your heart is guiding you to do. What I do know for sure is that through my long journey god has had his hand on me and guided me. That everything difficult can have a silver lining and our hardship can allow us to help others.

Take care everyone!!

Jangle, after I tested positive for sfn by skin biopsy my neuro started me on plasmapheresis. It was part treatment part test. When I responded well to it. My bp/hr normalized an I felt much better rather quickly, that was until I got another infection and anemia, which is how we found the immune defecit. He felt that the fact that I responded to the pheresis proved it was autoimmune SFN. Of course we now know I have several auto's on board along with the cvid/hypogamma.

I posted all the labs he did on me a very long while back, if you do a search you can probably find those posts.

My drugs have been dexamethesone, plaquenil, ivig, cellcept, steriod injections, suppositories and synthroid for hashimoto.

I'm currently on ivig, plaquenil, steriod suppository and synthroid for specific autoimmune issues. I'm on other meds for other issues that at least not yet are consider autoimmune,

Cellcept and dexamethesone caused very adverse responses. Steriod injections flared metabolic issues.

So far I seem to tolerating my current treatment plan well and labs are showing some improvements, some symptoms are improving. I still though don't feel well and struggle depending on the day. Still love to know what normal feels like and I haven't given up hope on that yet, as things seem to be moving in the right direction.

This is a complex but interesting topic. I've thought for some time that the research going on with cfs and the symptomology are so similar to dysautonomia. There are actually making nonsubjective medical findings with cfs now which point to orthostatic intolerance, but as we know here many things can cause this. At least cfs research is being directed at why it's happening. I agree with some one else who posted recently that the research in dysautonomia is primarly directed at treating the symptoms not the cause or what is causing it. The fact that we gets so many here with similar symptoms which are being caused by a varity of conditions is what makes this forum so good we are seeing here a real cross section of different causes. Something that a research center focused on specific research may not see. There is great wisdom and intellectual decernment on this forum.

I don't know much about cytokines yet, I do know some about autoimmunity/immune defects and how it effects my symptoms and now I am learning about gene polymorphisms that can lead to disease states. My cardiologist did a panel of genetic laboratory testing on me that has revealed I have the highest risk polymorphism for the gene MTHFR. I have the TT or homozygous version of it. It is often found in races of a italian decent, which I am. Though it is found in other races too. It is associated with recurrent miscarriage, which happened to me. It is also associated with other disease state. I will do a more detailed post on this, as I'm interested in the collective wisdom here and your input.

Dsdmom, You and I have followed some similar treatments and have been offered similar treatments. I'm interested in hearing and sharing your experience with ivig. My neuro prescribes my ivig too! He and my rheumy have both suggested methotrexate. Who suggested that and the rituxan to you?

IVIG is considered a biologic, a biologic is any treatment that is derived from humans or animals. IVIG is an immune modulator and isn't necessarily a supressant. I wonder though are treatments like rituxan only immune suppressants like methotrexate or are they immune modulators as well? Methotrexate has recently been offered up, but my gut reaction was it might not be good for me because of the hypogamma. It appears my natural instinct to resist it were good, as I have just found that the form of the mthfr gene I have has shown toxicity to methotrexate because we are missing the enzymes that metabolizes it and folic acid.

So back to the cytokine issue, are these the cause of inflammation. As that cardio panel also shows I have high inflammatory markers some of which I'd never heard of before. What ever is going on there does appear to be a genetic cause contributing to my illnesses and symptoms. Which in an odd way is some how validating!

Well most of my doctors are female now and most of them being women are better at getting women and listening. Not all be most.

I also make notes and questions to ask the doctor, even writing the note to the doctor and giving that to them first. That keeps us all on track. Though even with that not all topics get covered. I also bring any documented labs or records I have that prove that something is wrong. I also bring abstracts or articles from published doctors that are well known in their field, that will help point them in the direction I want to look into.

I have also found that some of my nurse practioners are better then some of the doctors they work for. Also before making an appointment with a new doctor, I will call and ask if they are familiar with and treat the condition I'm looking into.

If you are meek or get tongue tied like me the pre written note to the doctor, with bullets on the issues I want to address really helps.

With the infections there is another condition you might look into. The global name is primary immune deficiencies, there are a handful of sub diseases under that heading. I have CVID/hypogammaglobulinemia. I also have several autoimmune diseases and autoimmune small fiber neuropathy causing my autonomic dysfunction. I am improving with the current treatment plan I am on. If you've got some time go to primaryimmune.org and read up on them and see if one fits your daughter. It will give you something else to bring up to the genetic doctor. They are doing research already on defective genes for it. Dr. Charlotte cunningham rundel is the doctor doing that research.

It can take a long time for genetic tests to come back, so just be prepared for that.

My best to you and your girl!

I'm on ivig which is considered a biologic. My pots is being caused by an immune deficiency and autoimmune disease. The ivig along with the addition of specifice drug treatment for the autoimmune disease have improved my orthostatic symptoms as well as other symptoms. I still have a way to go though and don't know how much further improvement there will be yet. If I should stop treatments though I'm sure I would be in worse shape.

The reason I asked about the fevers, was because in my case, I was running a very low grade fever on and off for years. The highest it ever got was 100.2 with a rip roaring infection and ruptured colon.

The ability to run a robust fever is a sign that the immune system is fighting of something and working. So sounds like yours is a bit of a mixed bag. I agree with you most doctors don't think a low grade fever is anything to worry about. Which may be true unless your immune system isn't working right. Since starting my ivig treatment I haven't had any fevers at all.

It will be interesting to see what you find out, keep us posted.

Several of the docs listed as speakers are from Vanderbuilt. One of them is the doctor I saw. They didn't address catchlomines with me at the time. Be interesting to see what they say on this, as I do have elevations in norepi.

I would suggest you go to the primaryimmune.org website and read there. If you think you fit they have a physician referral program. You want a doctor that knows and treats these kind of conditions. Hard to say exactly what tests mayo gave you from what you posted. They can check igg for specific disease types and you may have been normal for that one particular disease.

The correct test will say "total quantitative immunoglobulins" and will have numbers for igg, iga and igm. I certainly don't think it would hurt to pursue further testing with the right doctor with the amount of infections you are getting. Some one who screens for primary immune diseases. It wouldn't hurt to have the tests done when you are actually fighting an active infection. It appears my tqi's tank with an infection on board.

I see you have anemia, pretty sure the antipartietal antibodies are related to that condition. I'm guessing you already have a hematologist managing that? If you do that doctor may be able to pursue the immunoglobulin and elevated wbc issues. I'd make sure they treat that condition first though. If they treat it then they will know how to test for immune issues. IVIG is the primary way to treat most immune deficiencies. Also blood disorders are often found with CVID as well as some other autoimmune diseases. Dr. Charlotte cunningham rundel is the primary researcher in this area if you google her, her research papers are published on the net.

BTW do you run fevers with your infections?