Turtle Posted October 20, 2012 Report Share Posted October 20, 2012 I have systemic about monthly episodes which include pan-dysautonomic symptoms, dermatological flairs, connective tissue and auto-immune problems, neurological, opthalmic and cardiological symptoms. They've been seen on tests with the end of one appearing to trigger the beginning of the next phase of the cycle which repeats on a pretty consistent loop. Doctors don't have a name for the underlying cause which is what's led to the many diagnoses to name symptoms over the years, including the one-off diagnoses of several dysautonomias. There is a decent suspicion that it runs in direct lineage family members who have no Ashkenazi Jewish connection that I'm aware of, but we're not positive if they had the exact same thing.Anyone read anything about anyone similar? I am hesitant to share too much personal info online. If you think anything might even loosely fit, I'll review it and see if it might be beneficial to take with me to the doctor. In particular, it seems like the predictability of the cycle is unique. I haven't read of others with this problem.I am happy to have found you and look forward to many fruitful discussions! Quote Link to comment Share on other sites More sharing options...
issie Posted October 20, 2012 Report Share Posted October 20, 2012 Yeah, you aren't alone with this. There seems to be a genetic component in my family too and we have no Jewish genology (that I know of). But, a good bit of what you are describing can go along with MCAS and that can also be genetic. My mom has severe issues/symptoms of it and so did her mom. There is a connection with EDS (Ehlers Danlos) and POTS and MCAS. Lots of info here on the forum - you can do a search.Issie Quote Link to comment Share on other sites More sharing options...
Turtle Posted October 20, 2012 Author Report Share Posted October 20, 2012 Wonderful! I'll search these terms! Thank you!It's an odd solidarity to know I'm not alone.Will you please tell me what MCAS and MPN stand for? Quote Link to comment Share on other sites More sharing options...
arizona girl Posted October 20, 2012 Report Share Posted October 20, 2012 Hi welcome, this is a safe place to ask your questions, and your true identity unless you choose to reveal it, is blinded and only known to the administrators of the forum. Our forum is also monitored for inappropriate behavior and unwanted advertising. While my symptoms haven't been officially diagnosed by a doctor as cyclical mine does flare with the female cycle which is very common with some autoimmune disease and other illnesses. It is also common once you have one autoimmune disease to have several. I do and I also have an immune deficiency called cvid. We have a lot of members here presenting with the same multiple types of symptoms and illnesses you are describing.Have they tested you for autoimmune small fiber autonomic neuropathy yet? Skin biopsy with qsart is the gold standard for diagnosing it. It can be caused by autoimmune disease. If you also get sick a lot or feel like you are running a fever and it is normal or low grade you might consider cvid.The genetic component also is not uncommon. I think you are referring to familia dysautonomia found in the jewish population. I think that is how you spell it. Pandysautonomia is also autoimmune caused and while there are no cures for most of the diseases yet, there are treatments that can manage them.You are not alone in feeling the solidarity, it is validating to put a name to this thing that effects our life and to know we are not alone. We are not our illness we have it, it doesn't have us! We are still who we were meant to be in spite of it, maybe better in some ways because of it. There can also be silver linings to any hardship we go through. Take care! Quote Link to comment Share on other sites More sharing options...
issie Posted October 20, 2012 Report Share Posted October 20, 2012 I'm sorry, forgetting the new ones don't yet understand the abbreviations for things. MCAS - is Mast Cell Activation Syndrome and MPN is Myeloproliferative Neoplasms. I have the first one. There is some sort of connection between the two however. The study I'm in accepted me based on my having MCAS.And will have to agree with Arizona Girl. I also have autoimmune issues and am low IGG and considered to have Hypogammaglobulinemia. I'm also recently demonstrating positive auto-antibodies to several things.Issie Quote Link to comment Share on other sites More sharing options...
Turtle Posted October 20, 2012 Author Report Share Posted October 20, 2012 Thank you! I have some good reading ahead of me. MCAS does not sound like me. I had one episode like that as a reaction and I remember the doctor commenting on mast cell reactivity at the time, but as soon as the therapy was stopped it went away. I'm trying to find a more conversational explanation of EDS. Is this a continuum type disorder or is it one of the ones that is either obvious or not present? I've seen the pictures of those with EDS, so if it is, for example, like Down Syndrome where the features are obvious and distinctive and either present or not then I can rule it out. Quote Link to comment Share on other sites More sharing options...
issie Posted October 20, 2012 Report Share Posted October 20, 2012 EDS is not always obvious. There are some things that seem to be common with us. Easy brusing, sprained ankles as kids, double jointed with many, silky skin and thin - usually, with many our veins are visible. But, there are people of color that have EDS too and that wouldn't be as visible a sign - then us with fair, pale skin. I had fast progression of near sightedness as a kid. We tend to get osteoarthritis at a very young age and there is a lot of pain that goes along with it. Some people have arthritis and are not as flexible as others because of that reason. There are many different kinds of EDS too. So, many of us will present differently.I didn't associate my general "unwellness" with allergies either. Not at first. I just knew I didn't feel well. When I started paying attention to reactions and when I had "POTS" symptoms - there was many times a trigger. When there is a trigger - you can usually associate that trigger with a reaction and it will nearly always happen with that trigger. Since, I've been paying more attention to it - I notice it more and the association. I had to start a diary of foods and activities to pick up the connection. I think MCAS is playing more role in POTS then people realize.Issie Quote Link to comment Share on other sites More sharing options...
arizona girl Posted October 20, 2012 Report Share Posted October 20, 2012 Hi again. Well Ehlers danlos is a genetic connective tissue disease and we do have many on the forum who also have it. Do a post of that in your topic line and you will hear from those who have it. There are actually five types of eds. There is only one genetic test and that is for type 4 which is the most serious kind as it can cause vessel and organ rupture. The other are diagnosed by symptoms of hypermobility. I think one type does have a particular look, but the others do not. Something like marfan a close associate of eds does have a particular look.Do a search here for eds and you can read what others have already posted. Not sure what you mean by continuum. I see issies just posted and she has eds, so she knows first hand.The other area you might look into according to your symptoms is autoimmune neuromuscular diseases. Quote Link to comment Share on other sites More sharing options...
Turtle Posted October 20, 2012 Author Report Share Posted October 20, 2012 Thanks! I'll be searching away! Quote Link to comment Share on other sites More sharing options...
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