addisons disease Community Group
for people who suffer with this disease and for people who are intrested to learn about this rare disease.
Hello, I'm new. My aunt and I both have many similar health issues and she began suspecting Addison's. I have been doing years of research, including combing through her raw genetic data (with the only helpful thing coming from that the fact that she has the PRSS1 gene mutation causing Chronic Pancreatitis, which explains why she has CP, and could possibly explain why I, and my grandmother (aunt's mom) had/ have CP as well). For so many years I have been treated like a person with a screw loose by so many doctors, family and friends. I'm not sure which hurts worse, being as horribly sick as I am, or not being believed. I am struggling with depression and anxiety and a ton of self-doubt because of this. I have very little confidence anymore. However, after years of research, I made an amazing discovery about my family which I think could explain a lot. I am scared to death to stand before a new doctor in January and present this family history and all the data I've collected, along with my current symptoms and labs-- scared not because I have something wrong, but scared that he will not take me seriously, just like most doctors don't. I almost feel fated to not be diagnosed properly until I'm dead and someone does an autopsy. But I can't think that way, because I am a wife, mom and have an aunt whose doctor refuses to test her or help her because Addison's is rare, and though she has ALL the symptoms (including hyperpigmentation and some really scary loss of consciousness spells and other severe issues).
My current symptoms are: nonstop bad nausea; extreme fatigue that makes it feel like just breathing is too strenous and painful its so bad; random horrible muscle pain as though I worked out but I don't excersize anymore because I'm too weak; Vitilligo on my neck; what I believe is hyperpigmentation-- a blue-black spot on my lip, dusky dirty colored knees, back of wrists, elbows and forehead, and a dark spot that is slowly growing over my gums over top teeth; low blood pressure, feeling like I could easily black out any minute, dizziness-- all of these every day; hypoglycemia, sometimes in the middle of the night causing me to wake up drenched in sweat (I do not have diabetes, though I do have chronic pancreatitis so diabetes may become an issue for me down the road as my pancreas continues to fail. By the way, I've never smoked or drank); weight loss (currently underweight at barely over 100 lbs, but this is easily blamed on CP); I also have Hashimoto's as do most of the women in my family; muscle twitching (like when your eyelid twitches, only its usually deep thigh muscles or arm or back, happens all over and every day, random twitching); low blood sodium levels which, when I graphed out, have been slowly falling for years and now are flagged as too low; constantly having to pee and either have soft stool or diahrrea-- I'm constantly on the toilet; feeling so low and depressed that I can't concentrate even on things I love; see stars when I climb stairs or stand up too quickly; headaches almost daily; sometimes at night especially I feel extremely unwell but don't know how to explain it. I start to wonder if I should head to the ER, I just feel like I'm going to either have a heart attack or, if I do actually manage to sleep, like I will not be able to wake up again-- I wake up every morning feeling just as drained and sleepy as in the middle of the night and feel this way all day-- it is like someone drugged me, gave me some sleeping pills, and it takes everything in me to stay awake and functional all day. Sometimes also at night my stomach and back will hurt and the pain will radiate into my legs and it is just a really crappy, really scary feeling; I also have low PTH (parathyroid hormone) and although you could blame this on the fact that I have had two parathyroid tumors removed in the past, my aunt also has wonky PTH levels and has never had any surgery on her neck or thyroid or parathyroids-- in fact this is such a rare issue (to have low PTH with no surgical history) that I believe we have APS Type II, which is one of the causes of low PTH and causes a combination of Addison's with either/or Hashimoto's, Grave's and/or Type 1 diabetes. Again, we have Hashimoto's (I had 80% of my thyroid removed unexpectedly during parathyroid surgery because it was so inflamed and full of scar tissue), and neither my aunt or I has been tested for Addison's or had those hormone levels checked at all, but I am going to demand that we should have this done. I have no doubt in January that they will at least be willing to "rule it out" for me at Cleveland Clinic, though I am scared to death this new endocrinologist is going to look at me and shake his head and say "what makes you think you could have Addison's, let alone APS Type II, which are so rare? You've been reading too much on the internet," simply because that's exactly how doctors have treated me all my life. The problem is-- how common is it for a 35 year old woman to have all the diagnosis/ medical issues that I currently have? I already know I'm a zebra, not another horse, so I really would just love someone to care enough to help me.
What I found in my family history is that my grandmother was exposed to the Rubella virus before vaccines were out (in fact during the whole Rubella pandemic in this country) leading to her first born child being born with congenital Rubella Syndrome leading to blindness and mental retardation to a degree-- this is well known in my family, but never had I made the connection to myself and my aunt. My grandmother went on to develope Type 1 diabetes in her 40s among too many other health issues to list, and died in her early 60s after a brain aneurysm. I beleive the Rubella virus triggered ault-onset autoimmunity which caused APS Type II and all if not most of her health issues and early death. I believe the virus, though no longer acute, was passed on to my aunt and to all of my grandmother's children invitro, but that because most people with decent genes can handle the virus and move on, it didn't cause issues for most, but for my aunt, who must have the right genetic predisposition which acted in concert with the Rubella virus exposure in the womb, seems to also have gone on to develope APS Type II. And through my mom, I would also have been exposed before I could be vaccinated, and I, too, have the right set of genes for this virus to cause adult-onset autoimmune hell. Just as an interesting note, both my Aunt and I have O negative blood types, which is a recessive blood type, while the rest of the family does not have this, nor are they as sick as we are. I'm not saying there's a connection to the blood type, just that it shows we likely have a more recessive gene set. When I first read that APS Type II has been linked to chronic Rubella infection which can be passed from mother to child in the womb, I broke down and cried-- this was my grandmother's story, and my aunt and my story-- left undiscovered for all these years!!! But now I have to prove it-- and pray to God I can before my aunt or I have an Addison's crisis or some other bad thing happen with no help.
When I told a few close family and friends about my discovery, which for me was such an emotional eureka moment, a few of them said to me, "Are you kidding? Get off the internet." That hurt more than I can tell you, and I am sitting here crying right now because it has made me wonder if maybe I am just nuts. Maybe all of this really is in my head somehow-- maybe it's real, but I'll never be taken seriously, or maybe I'm just jumping on something that is just too rare to be true. I don't know, but rare doesn't mean impossible, and there must be SOME explanation for all of these horrible health issues and diagnosis my aunt and I have in common. She was actually on salt pills at one point because her blood sodium levels were so low. Before that, she would lick salt out of her hand-- and I actually found myself doing that the other day, and licking salt off of potato chips and throwing them away (I can't eat all the fat due to my pancreatitis).
I feel like I'm loosing my mind. I guess I'd just love for someone, anyone-- even a complete stranger to say, you aren't crazy. But, if you think I am, tell me that too. I want to know if I'm off base here or not. What do, especially those with Addison's, think?