jenglynn Posted March 3, 2012 Report Share Posted March 3, 2012 Hi Everyone!!! Quick catch up- was admitted through ER due to some organ shut down at a research facility in Dec. I was there a little more than 2 weeks. They diagnosed me with "severe" autoimmune autonomic neuropathy, a connective tissue disease ( but refused to test me further because they do not believe that connetive tissue diseases have any relation to autonomic dysfunction- so my DX is Unspecified Connective Tissue Disease on my discharge papers), and an Autoimmune Deficiency Disease- IgA antibody deficiency and tested positive for Polyconal Hypergammaglobulinemia which often leads to autoimmune Disorders. My kidney function abnormal, thyroid and liver levels abnormal, bladder was completely non-functioning. They decided the course of treatment was 12 doses of IVIG- which when I asked the questions risks/outcome- was told near zero risk and chance of success is 50/50 to help my autonomic neuropathy tremendously ( severe tachycardia, orthostatic hypotensive, very low BP, multiple episodes of syncope daily resulting in lots of concussion, adrenal surges, etc..... ). When I was admitted I had less than 1 min. that I could stand before syncope (had 4 episodes of syncope in the ER alone). I had 4 infusions of IVIG and during the 4th had an anaphylactic reaction. Luckily,was being closely watched so I'm still here. Next day labs showed my body was in full rejection from IVIG and I was very sick, even worse than I was when admitted.I'm supposed to have my next appt. in 3 weeks. We had to wait until all the IVIG was out of my system before we could try another treatment. Levels are mostly normal- kidney function is better but not normal yet and still lots of bladder problems. I found out after the fact that the the type of IVIG they gave me actually had a huge chance of rejection due to the fact that I'm IgA antibody deficient. When someone told me this (not a dr. Someone on this forum) I googled it and found in 5 min. 10 sources that clearly state this. I guess I am wondering HOW they missed this???? And when I called to ask about it, I was totally blown off by my neuro- "No treatment is without risks" would not acknowledge a mistake. This, along with the fact that they are totally unwilling to explore my connetive tissue disease as even a POSSIBILITY for contributing to the issue- even though I have a 13 year old who was diagnosed also with an unspecified connective tissue disease at 12 months old (she was a late sitter, walker,etc) and when I asked the neuro at the time what that meant- he said it means she is flexible and she will sit and walk late because she is "floppy". Well, at age 11 she had her first syncope episode. This was before this whole issue with me but I've also had syncope since I was a young child. At 13, she has had 4 syncope incidents. Doctors have said the same thing I was always told: stood up too fast, some people just faint,etc.Okay... So my dilemma... I am so nervous and apprehensive about going back - even though I KNOW I'm lucky to even have this option... But I am hesitant because of the IVIG mistake and the refusal to consider the connective tissue- and even though I brought it up OVER and OVER- I was basically told to not bring it up again. This is autoimmune and that's final. And they only want to consider immune therapy treatments. After my IVIG disaster- I'm not sure I want to go there. But I have no other options right now. I've had zero improvement- except my organs are functioning "better" but still abnormal. I would feel better if they said "You know what, we gave you the wrong kind of IVIG brand because of your IgA and we are sorry we missed that and made you so sick and set you back further. But these other options have been researched really carefully." OF COURSE, I wouldn't start any therapy this time without doing lots of research myself and trying to get other opinions. But I feel as if I have very little faith in these doctors and they really have not treated me very respectfully. But I'm still sick and debilitated and I just want to get better and want some form of a life back- and no one else can help me.SOOOO- I know that was long and I tried to keep it concise.... What would YOU do in my situation? I can't even find a neurologist that will see me at my home hospital because of my condition and am managed by my family doctor and electrophysiologist- both of whom I love- but they have both done all they can. And I really hope I don't or didn't offend anyone with this post because I'm the first to admit that this is a phenomenal facility... They diagnosed me when no one else could. For the most part, my care was wonderful. But these issues concern me and I'm at a loss at what to do now. Any advice or input would be so appreciated because I just don't know where to turn at this point. And if anyone would be able to help me, I KNOW it is this forum!!! Thanks for reading and trying to follow along Shamelessly Begging for Help Jen Quote Link to comment Share on other sites More sharing options...
rubytuesday Posted March 3, 2012 Report Share Posted March 3, 2012 I would take a strong advocate with me (should you decide to go), someone who is strong spoken. I hate to say this but I get more 'action' when I drag DH into appointment room (am taken more seriously) by male physicians (even tho I am health care professional--I don't tell them but some know). I don't tell them what to do but ask something like 'would there be any value in. . .' or 'could you please explain to me why . . .would not make any sense with . . .'. (I play 'stupid' to make it seem as if it is his/her brilliant idea). I apologize if I am misrepresenting the strong men and women who are able to get physicians to listen but I'm just speaking from my own personnal experience when I run into this. Quote Link to comment Share on other sites More sharing options...
sue1234 Posted March 3, 2012 Report Share Posted March 3, 2012 IF it were me, I would not worry about the EDS for the time-being. I would let them focus on whatever they need to do to get the severe reaction you're having under control. It seems like that is the "acute" thing that's going on in your body right now. Of course, now that you are doing somewhat better, you can Google whatever their next game plan is and see for yourself if you feel comfortable with it. Quote Link to comment Share on other sites More sharing options...
ramakentesh Posted March 3, 2012 Report Share Posted March 3, 2012 The fact that IVIG did not work for you initially does not exclude the possibility that it is an autoimmune etiology. What your describing pretty much fits exactly within what Mayo describe as severe autoimmune neuropathy. There might be other options here. steriods? etc.It is not only unlikely, but prettymuch impossible that EDS could cause multisystem shutdowns and bladder abnormalities. It might be that people with EDS are more predisposed to this kind of autoimmune issue?i would trust the docs. But that is me. Quote Link to comment Share on other sites More sharing options...
jenglynn Posted March 3, 2012 Author Report Share Posted March 3, 2012 Thanks for your input... I want to clarify that I do believe that is likely autoimmune related. But to just dismiss other research which states that connective tissue issues can be related just bothered me. My biggest issue is that they totally missed the fact that I'm IgA deficient and gave me a Gamma IVIG (which clearly states- DO NOT give to IgA deficient patiets) which is almost certain to put me in anaphylaxis AND rejection and to not even acknowledge the mistake. I guess I am just having some trust issues...but so far the consensus is that they deserve another chance? I know that we are talking about world renowned experts. I don't want to throw away the chance at getting better- I'm just very torn...Thank you so much for taking the time to read and respond... I really appreciate the input very much!!!!Jen Quote Link to comment Share on other sites More sharing options...
jangle Posted March 3, 2012 Report Share Posted March 3, 2012 Connective tissue is what holds nerves together, dysfunction in that might lead to the nerves being distended and dysfunctional. Purely speculation.If I were you I would bring the patient advocate. In addition you will want to start talking about experimental treatments what the doctors will be willing to do and what is the most likely to work. If there's anything out there they should know about it.Hang in there Quote Link to comment Share on other sites More sharing options...
issie Posted March 3, 2012 Report Share Posted March 3, 2012 This could have happened with any doctors. It's less likely to happen where all the doctors are in one place and have access to your records. That being said - make a list of all the known disorders that you have and make sure each doctor you see has it. That way, hopefully, nothing will be overlooked. They don't always go in and read every single record, but, they might would look at a list if you hand it to them. Also, explain what happened and why that went wrong. And tell them because of that you're just afraid of medical care but so desperately need it and hope for a solution and cure. That should be acceptable to them and they will be more careful knowing what you've gone through. I hope you get some answers and help. I'll be thinking of you and hoping for good things for you.Issie Quote Link to comment Share on other sites More sharing options...
jenglynn Posted March 3, 2012 Author Report Share Posted March 3, 2012 Bringing in an advocate is a good idea... And definitely my husband as well. Issie, good point that could happen anywhere. It was just such a scary and discouraging experience that I am a little skittish. But my whole situation is so complicated that they even admitted to me that I am a "medical enigma"- its actually in my medical record. They don't completely understand why I'm having the organ shutdown and the severity of my autonomic symptoms. You guys have helped calm my fears I think I get so emotional about the connective tissue stuff because of my daughter. I'm so afraid of her having to go through this someday and I will admit that I am definitely not unbiased. Objectively, I can look at the big picture and think... Yes, that's interesting and something to pursue when you're stable, but right now- you are really sick and it isn't because of that. But as a Mom I guess I just want to make sure that if I can save her from this, if it's even a slight possibility, let's not leave any stone unturned.Thank you- you have all eased my concerns. If I'm going to make improvements and get treatment to help me out of this spiral- they are probably the place to be. I do know they want to make me a case study- not sure if that is a good or a bad thing?Jen Quote Link to comment Share on other sites More sharing options...
DoozlyGirl Posted March 3, 2012 Report Share Posted March 3, 2012 Jen,I have been reading your posts with great interest. I am so sorry you are going through this. I also have autonomic neuropathy, severe OH, and lots of autoimmune issues, but my autoimmune panel is negative for AAN.I am not sure if any of this fits your scenario, but we are finding that my presyncope OH episodes are actually part of a cascade of symptoms that always varies, but pointing to ongoing chronic daily low grade episodes of anaphylaxis. I uaually have facial flushing, blotching on my neck, headaches, nausea, dizziness, vertigo tinnitis, sitting orthostatic hypertension and standing orthostatic hypotension, tachycardia, night sweats, vomiting, and other GI issues, and the list goes on. I am seeking a diagnosis of mast cell activation syndrome/disorder (MCAS/D). I have been reading up on anaphylaxis and I wonder if maybe your mast cells, which are triggered to induce all those symptoms and more may also be involved. Many MCAS patients have autonomic dysfunction and a chunck of patients ALSO have a connective tissue disorder. Several patients on here have that Triad. I'm sure others will chime in. As others have stated, a connective tissue disorder can be considered later. Your first mission may need to be checking out mast cell disorders and see if you think that will fit your history. You will need to be prepared for a potential future severe reaction, and checking out the emergency protocols at wwwtmsforacure.org is a great place to start. If that is the case, once you get into the research, you'll learn that they might not recognize mast cell disorders outside of systemic mastocytosis. You may want to consider that there may be other variables to inducing your severe reaction which could potentially include that connective tissue disorder you have. This immune deficiency syncdrome may add a few wrenches into the mix, but those with mast cell disorders have odd reactions to all sort of triggers (meds, foods, smells, additives, chemicals, etc.)Good Luck on sorting this all out. You really need 2 EPI pens and may want to also carry a H1 and H2 antihistamines to help with any future reactions.Lyn Where do you live? I know you are near Rochester, but where? Quote Link to comment Share on other sites More sharing options...
ramakentesh Posted March 3, 2012 Report Share Posted March 3, 2012 I also have autonomic neuropathy, severe OH, and lots of autoimmune issues, but my autoimmune panel is negative for AAN.Cool, but you know that many are seronegative and researchers think they have only just hit the tip of the ice berg in terms of potential autoimmune targets? Quote Link to comment Share on other sites More sharing options...
DoozlyGirl Posted March 3, 2012 Report Share Posted March 3, 2012 Thanks RAMA. For me, it meant that my docs have moved on to other potential causes. I will keep your point in mind as I move forward and keep an eye on the research. Quote Link to comment Share on other sites More sharing options...
Chaos Posted March 3, 2012 Report Share Posted March 3, 2012 Jenglynn- Sorry to hear you're still struggling with all this mess.As far as the EDS, it may be a pre-disposing factor to you having the ANS issues, but like Rama said, it's unlikely to have caused all the stuff you've had. And most doctors are trained to think of hypermobility as nothing more than "you're flexible". I have yet to find a doctor who has any appreciation of the other complications of having hypermobility issues. Even the geneticist who diagnosed my EDS was unaware of the connection between EDS and ANS issues.Unfortunately, it seems to be a universal issue in health care that nobody can afford to admit they were wrong for fear of a lawsuit. It's ironic because I've heard several patients say they are considering sueing a doctor BECAUSE he won't admit any fault. Yet the docs feel they can't admit fault or it may be used against them in court. So while I certainly understand how your situation would shake your faith in them, I think it's partly the "system" that's coming into play here.Guess I think you should really go with your gut. If you truly feel you can't trust them it will be hard for you to work with them. However, research facilities have the reputation they have for a reason. That said, they are "only human" so they do make mistakes and miss getting the correct diagnosis sometimes. You will have to decide if you have any options that are better than this particular facility for what you need that you can get to and have your insurance cover.Good luck! It's a hard situation to be in. Sending you hugs. Quote Link to comment Share on other sites More sharing options...
rubytuesday Posted March 3, 2012 Report Share Posted March 3, 2012 Thanks for your input... I want to clarify that I do believe that is likely autoimmune related. But to just dismiss other research which states that connective tissue issues can be related just bothered me. My biggest issue is that they totally missed the fact that I'm IgA deficient and gave me a Gamma IVIG (which clearly states- DO NOT give to IgA deficient patiets) which is almost certain to put me in anaphylaxis AND rejection and to not even acknowledge the mistake. I guess I am just having some trust issues...but so far the consensus is that they deserve another chance? I know that we are talking about world renowned experts. I don't want to throw away the chance at getting better- I'm just very torn...Thank you so much for taking the time to read and respond... I really appreciate the input very much!!!!JenJen, I have selective IgA deficiency among my multicomplex immune deficiencies and take IV Ig. Everyone's response is different. My dose is given at 'the rate they would give it to a 100 year old person' according to my infusion nurse. That being said, if I cannot get a physician who listens to me, and explains his treatment plan in terms that I understand (he doesn't have to agree with me, he is the physician who is trained, educated and experienced), I don't keep that physician. Trust is a huge component in the physician-patient relationship. That is why, when I know and respect a physician but feels he has dragged his heels too long for whatever reason, I pull in some 'manpower' with me and suddenly, an action plan gets in place rather expedicously. Quote Link to comment Share on other sites More sharing options...
RichGotsPots Posted March 6, 2012 Report Share Posted March 6, 2012 I've seen a case of EDS getting bad quickly so you should get a second opinion on that separately. No harm in getting 2 or 3 opinions.. also a lot of us are our own doctors, meaning we let the real doctors diagnose us and order tests and prescribe medicines but we go to appts armed with research and research everything doctors want to give or test us for. That's what's great about the forum. If you have a laptop I suggest you bring it to the hospital next time, they usually have free wifi internet Quote Link to comment Share on other sites More sharing options...
julieph85 Posted March 6, 2012 Report Share Posted March 6, 2012 Jenn , I encourage you to ask your doctors of you can try prednisone or methotrexate. Quote Link to comment Share on other sites More sharing options...
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