Undiagnosed Symptoms Community
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Avatar universal

Undiagnosed (Autoimmune? Food? Inflammation?) Issues

I am a 21 year old woman struggling with steadily declining health. I have struggled with chronic stomach pain and constipation, restless leg syndrome, vulvodynia and asthma since early childhood. Rosacea, severe depression and anxiety, fatigue, brain fog (derealization/depersonalization), hypothyroidism, facial pain, and sporadic but managable muscle pain since early /mid teens. I have bruised at the drop of a hat and struggled with being overweight since I was young, and have chronic lower right quadrant pain in my abdomen that flares up strongly when I do most forms of cardio (or sometimes for no reason, I had a paranoia about appendicitis for years from it).  Gluten seemed to make things worse, so I stopped eating the obvious sources (bread, pasta, etc) two years ago but I was lacking in information and didn't know about cross contamination so I was undoubtedly still ingesting some. I was having difficulty eating as a wide group of foods started bothering me in a variety of ways- from stomach pain to fatigue to worsened rosacea or asthma. I suspected celiac or other food intolerances but my IGA test actually came back mildly deficient. I saw a gastro that told me to do a gluten challenge so she could do an endoscopy, which I did for 8 weeks.

It was the worst 2 months of my life. I spent the first two days being violently ill, with a reaction that resembled food poisoning but no one else in my family was affected. I developed severe fatigue and sciatic pain that made it hard to walk. I could not eat anything without having to lay down for an hour afterwards because it made me so sick to my stomach. I had so much gas in my stomach one sip of water would cause me to burp again and again for 30 minutes, and meals were much worse. My anxiety and depression, which had been pretty well managed for about two years, came back so strongly I had panic attacks while I was trying to sleep. I had such severe brain fog I lost the ability differentiate between dreams and reality and believed I was a ghost. I felt detached from my body, and I felt like someone else was controlling me. I developed pain all over my body and muscle weakness that made me exhausted after one trip up the stairs. My restless leg syndrome, which had been in remission for four years, came back affecting my entire body including my genitals in a way I believe is similar to restless genital syndrome. I was completely and utterly miserable and I spent 80% of the time in my bed wishing for death. They did the endoscopy and colonoscopy and I immediately cut gluten out of my diet and started attempting to avoid CC. My results came back negative on everything except for gastritis, which I believe was actually caused by the gluten.

Unfortunately for me, while some of the symptoms did decrease and I no longer feel like a ghost, I didn't get better enough. The muscle pain was diagnosed as fibromyalgia, the restlessness in my entire body is still present, my anxiety and depression have set me back pretty far, the brain fog is still bad enough that I can't drive, my stomach is still inflamed to the point that I can't eat grains or processed food and am living off bananas and chicken. It's been three months since my procedure. Before the trial, I was lifting weights and going biking and gardening and attempting to feel like a normal human being but now my body is still in utter chaos. I used my elliptical machine for 10 minutes yesterday, slowly, on the lowest setting, and today I am in utter agony. And no one will believe me that I have food issues. I essentially got a pat on the head from my gastro, and now the rheumatologist I went to for my fibro diagnosis wants to put me on Plaquenil because although my Lupus tests came back negative she wants to see if it will change anything, but I'm terrified to try something that heavy. I just don't know what to do! I can't even go to the store longer than 30 minutes because it gives me such bad back pain to walk for that long, and I can't work or go to school and I have no friends or hobbies that I can do. I'm so sad all the time, at this point I just want to die. I'm only 21! What can I do?? Does this sound like any disease you've heard of? Everyone keeps telling me it can't be celiac because "your scopes were normal," but so far no one has come up with a better idea. I don't know what I'll do if these symptoms never go away. Please help me.
18 Responses
1756321 tn?1547095325
My brain fog and fatigue were the worst with autoimmune pernicious anaemia (malabsorption of vitamin B12). This is one cause of gastritis but i'm lucky to not suffer pain.  

I bruise easily with iron anaemia. My niece on the other hand used to bruise easily due to calcium deficiency.  My pain was due to severe magnesium deficiency, severe vitamin D deficiency, hypothyroidism. Fatigue due to a every condition i have ever had basically. :)

Despite normal thyroid labs with thyroxine replacement i still have numerous symptoms. I have Hashimoto's thyroiditis (most cases of hypothyroidism are due to this autoimmune disease) but i also have cellular resistance issues. I am trying natural desiccated thyroid hormone to see if this improves.

The following info is from the book "The Everything Guide To Thyroid Disease" by Theodore C. Friedman, MD, PhD and Winnie Yu Scherer.

"Although the majority of people with Hashimoto's will not develop any other disorders, it's important to know what some of these autoimmune conditions are in case you do start to experience symptoms. Keep in mind, too, that you may be more likely to develop Hashimoto's if you have one of these other conditions.

Type 1 diabetes
Pernicious Anaemia
Addison's Disease
Celiac Disease
Alopecia Areta
Systematic Lupus Erthematosus (SLE)
Rheumatoid Arthritis
Sjogren's Syndrome
Inflammatory Bowel Disease
Multiple Sclerosis (MS)"

I have answered more indepth about causes of brain fog and vulvodynia on other answers. The links you can read through...

Causes of brain fog:

Avatar universal
     The other answerer had some great ideas to  consider, so I'm going to focus on suggestions for having a successful appointment with a doctor. I have Unfortunately found that not all professionals are professionals. If you can, switch to a different gastroenterologist. I had to do that; I have Celiac for sure; I even had a Positive biopsy for Celiac during an endoscopy He did!! But he was totally stuck on the idea that all I had was Irritable Bowel Syndrome-- and kept telling me all about how He has it, going into detail about symptoms that he should not be telling patients. I found a new gastroenterologist and he's Great.

     Switching specialists is Very common; you can start off by requesting an appointment as a second-opinion appointment, or (unless you need a referral from your primary care doctor and they won't) you can schedule it as a regular first patient appointment and not mention that you've been evaluated by another gastroenterologist. If they ask, of course, it's best to be honest, but they may not. If you tell them, say that your primary care doctor wants you to get a second opinion or, since you're young enough to live at home, tell them a parent or relative insisted; it's not a great idea to say that it's because your last doctor was a jerk, haha. If they ask why you didn't mention sooner that you'd seen another doctor, use the parent or relative excuse again! It's unfortunate, but some doctors don't respond well to a patient who's already been seen and dismissed by another doctor.

    I hope it's not this way for you... but people sometimes have to see even five or More different doctors before they find a doctor who's both smart enough to make a diagnosis and professional enough to work with you to find a successful treatment. But it Will happen for you, eventually. It is very hard to keep going through illness and tests and appointments, but it sounds like nothing could be worse than what you're experiencing.

     If you can, look around online for patient reviews of their gastroenterologists, and ask your family and friends if they-- or anyone they can ask-- is able to recommend or warn against any of them. I haven't used the gastroenterology forum on this site, yet, but you could see if they have suggestions about finding a good doctor. Your best bet is to find out everything you can because a doctor who's good with one patient could be completely unprofessional with another. If you can, find out what illness they were diagnosed with/treated for. Some doctors are great if the answer is obvious and easy to deal with, but just give up if they can't figure it out right away. I've had doctors tell me that other doctors Really do that!!

   I may have a suggestion about a disease to look into that could cover everything, but I'm going to show your post to a friend who has it, first, because you don't want to know how hard it can be to diagnose and treat. About how old were you when your first symptoms/illnesses began when you were a child? Hers started when she was around 9. I'll post again to let you know about it either way!! I know what it feels like to be sick and hopeless, and you're even sicker than I have been/am now. Right now, I'm being evaluated for possible MS.... by a Second gastroenterologist because the first was dreadful and barely even listened to me.

Avatar universal
Thank you for the information and links!
Avatar universal
This is good advice; being a somewhat passive person, I absolutely love the idea of passing the blame of getting a second opinion off to someone else! I have found a reputable gastro whose office isn't too far away and I'm in the process of trying to get in to see him.

I can't actually remember what age everything started at, they've kind of built up at random over the years. Going from the earliest, I know I had stomach issues from the time I was very small, probably 4 or 5. The restless legs developed around 7, around which time I also had very, very bad leg cramps that were always attributed to growing pains. I wasn't diagnosed with asthma until middle school but I always struggled excessively with my breathing when I was active, so I suspect I had that pretty early on as well. Everything came on at some point past age 9, I believe. Apart from the easy bruising and scarring, which I've had since I can remember.

Could you tell me the name of the disease anyway? I've looked into some pretty bleak-looking disorders in my time. I promise I can handle it :)
Avatar universal
Aquarielle wrote:

"...People sometimes have to see even five or More different doctors before they find a doctor who's both smart enough to make a diagnosis and professional enough to work with you to find a successful treatment."

I never would've believed this, until I developed a mystery illness bout 8 months ago, and doctor after doctor has basically said too bad, so sad your life is now in shambles from the daily symptoms, but I don't know what it is.  Buh, bye.  No concern.  No places to look.  No referrals.  Just buh, bye.

In attempting to diagnose myself, I've read thousands of personal accounts of people with awful symptoms which were dismissed as "stress" or "anxiety" only to later finally find a doctor who knows what he/she is doing.  Some suffer terribly for months,  even years.  I recently saw a story about a woman who almost died because her dismissive doctor kept telling her it was all in her head, and that the only solution was for her to learn relaxation techniques.  SHE ALMOST DIED!!!  It took her husband almost threatening a second opinion out of that doctor to finally get a correct diagnosis from a let's say "better" doctor, and save her life!

Same thing with a woman I ran into at the hospital.  Her doctor(s) had told her there was nothing more they could do, and told her family to make final arrangements.  ONE doctor on that team decided a hail Mary was in order, and had a helicopter ship her to a nearby teaching hospital.  The thing s, she was IMMEDIATELY correctly diagnosed there, and is now recovering (when I spoke to her).  I have to agree that you must brush off all the sanctimony, mocking, and dismissal, if you KNOW something is not right.  It shouldn't be this way.  But, I've come to earn it really is.

That's what I'll never understand.  If you despise your patients so much (jumping to the conclusion they're making it all up or too dumb to know if something is wrong), then maybe it's time to retire.

I can't really imagine going to one of my clients' offices and, without any consideration for the facts, just arbitrarily decide they're making up the problem, that no problem exists, or that the problem they perceive isn't serious enough to warrant fixing (and they should just live with it).  I wouldn't have very many clients and would quickly go out of business, if that was my strategy.  ...And rightly so.  I wouldn't actually be serving anyone.

I am truly surprised how much healthcare has degenerated, over the past decade or so.  Most of my life, the little bit of care I needed was readily available and professionally provided.  Since becoming ill, I have seen that's no longer the case.  (One polite-enough doctor made some remark about wishing he were elsewhere, during my consult...almost certainly a thinly-veiled insinuation I was wasting his time.  I laughed and said, "Just get what I have.  Sure, you won't have to come into work anymore, but you won't be able to do much else, either.  If you have a fun car you like to drive, you might as well sell it.  Oh, and your career as a doctor will be over.  Good luck living with these symptoms very day."  He looked a bit embarrassed after that.  My husband, who was in with me, gave me the biggest smile.  Booyah!  :)
Avatar universal
The disease I'm wondering about is Porphyria; there are a number of different types, and some involve significant digestive problems. The testing process is so tricky that a person could have negative tests over and over again even though they have the disease. Have any doctors mentioned or tested for it?

    My friend (who has it) wants me to ask: Do you avoid just gluten or carbs altogether? Also, if you eats carbs, do you find that you feel any better after having eaten them?

    She isn't well and that makes a lot of things very difficult for her, so it took her some time to read your post and get back to me.

Avatar universal
Jody, I'm sorry that you're going through the diagnosis nightmare process, too. I LOVE the response you gave that doctor!! What a jerk-- it's bad enough when they're Just unprofessional. Do you think that you might be close to getting a diagnosis? I'm hoping that I'll get a diagnosis, soon-- and I might. If the test I'm having this week has the results that it Really Should, I could be very close.
1756321 tn?1547095325
I saw numerous doctors over the decades and then diagnosed myself from online research (finally had access to the net at home).  My specialist congratulated me on diagnosing both of my autoimmune diseases (one is very rare at 100 per million and fatal without treatment). I love Google. :)
1756321 tn?1547095325
No problem. :)
Avatar universal
Thank you, Aquarielle.  :)  I'm afraid, though, I'm still in the wasteland of hypotheses.  I had a bad couple of days of symptoms, but feel much better now, save the blurred vision and mid headache/head pans.  I will see my new GP soon, and ask for a specific referral (as recommended by a kind doctor here).  I must admit I'm surprised (relieved, but surprised) my CT scan came back clean.  In addition to the headaches and head pressure, I have brief, very sharp pains in my head, often radiating across the back or top of my head, and semi-frequently around my left eye.  They don't last long (<1 min., usually), but they can sometimes be intense enough to stop me in my tracks, and I usually experience several per day,  it's baffling.  I mean, I'm not one to jump to extravagant theories or exotic conclusions.  But what could suddenly cause somethinglike like that...in an otherwise very healthy woman almost 50-years-old?  It's crazy!  ;)

I so very much hope you also get some kind of resolution, too.  For me, this illness (or whatever it is) has been truly humbling.  I've always felt empathy for people with serious or chronic illnesses.  Now, I find myself doing more to advocate for patients.  When I am ill with this, I'm fragile and weak, and can't stick up for myself.  (Luckily, my husband is always with me.)  Since this happened, I can't tell you how many times I've helped other patients - being strong for them, when they have no one to advocate for them.  This has deeply changed me.

A diagnosis, or at least some kind of understanding, is key.  Sure, MANY people have it much worse than I do, right now.  But you know what they have?  A diagnosis.  They know what's causing their problem, what the prognosis is, and if there's anything the can do to predict or mitigate symptoms.  Until there's a diagnosis of some kind, there's none of that.  I have no idea if this is the rest of my life, or even if it's something that will get worse.  I keep hoping it will magically go away as suddenly as it appeared.

I wish no one became ill.  I wish all people were treated with basic respect.  I wish all ill people could know their illness, and what to expect (dare to dream...how to cure it).  

Your reply made me smile, Aquarielle.  :)  thank you, and good luck!
Avatar universal
Awesome, awesome, awesome, Red_Star!  You should be very proud of yourself!!  I am so proud of you!!

I had my own "win", of sorts.  Around age 40, I began gaining weight.  This was strange because I'd always weighed 97lbs since I was a teenager.  It never changed, and I didn't try to change it.

At first, I didn't mind so much.  At 5'4", I looked better around 110lbs, anyway.  But the weight gain steadily continued, and no amount of diet and exercise changed that.

I did sooooo many things to lose weight.  I ate nothing.  I ate more than normal.  I exercised intensely.  The weight gain slowly continued.  I tried eating 30g of protein within 30 min's of waking up.  I tried activating brown fat with cold showers.  I drank apple cider vinegar, and on and on.  I did that 'Insanity' program (which IS intense!) and gained 2 lbs!!  "Experts" ignored what should have been obvious signs, and just concluded I was lying about what I was eating or how much I was exercising.  Like the dismissive doctors I've seen, that was the most frustrating part...the perfunctory assumption I am lying.  It's not just zero help.  That's bad enough.  It's actually detrimental.  

Long story short, THE INTERNET led me to discovering the link between my almost-forgotten PCOS and insulin resistance.  (Some sources describe it as "profound insulin resistance").

Some wonderful PCOS women have posted their experiences online, which led me to trying a natural insulin sensitizer (cinnamon) known to be effective for PCOS women.  It worked.  Literally, from the day I began taking it, I started losing weight.  I quickly lost 20lbs, and have slowly lost another 10 or so; stalling now and then due to (seemingly) too much exercise, and maybe now because of my illness.  But I am still losing weight, which is awesome.  I had a high BMI near 30.  Now it's 23.  (Cinnamon is said to be effective with weight loss only in those who are insulin resistant, and in combination with diet and exercise.)

That changed me, as well.  Not just being a sort of advocate for the use of cinnamon by PCOS women who need to lose weight, but in taking charge of one's own situation.  Had I just listened to those who said it was all about calories in/calories out, I'd still be gaining weight.

Red_Star, I am so proud of your tenacity, and so thankful you saved your own life!  You're an inspiration!  :D
1756321 tn?1547095325
Thank you! :)  I've had severe insulin resistance for over a decade.  I had a two month hyperthyroid flare up last year and lost NO weight so that was a clear indicator right there of insulin resistance.  

My symptoms of severe insulin resistance (that i know of) - very prominent buffalo hump, high hip to waist ratio (0.96), belly fat, acanthosis nigricans (darker, thick, velvety skin in body folds and creases), skin tags, thirst, difficulty losing weight, fatigue (although i have fatigue from other medical conditions as well) and may even explain my 3cm increase in height in my 30's!

*"Healthy kidneys are able to limit urinary excretion of magnesium to make up for low dietary intake. However, excessive loss of magnesium in urine can be a side effect of some medications and can also occur in cases of poorly-controlled diabetes and alcohol abuse [11-18]."

I would add insulin resistance to this statement* as i've had magnesium deficiency for over a decade.  My moderate magnesium deficiency worsened to severe magnesium deficiency after surgery and high doses of vitamin D. I developed acute kidney failure taking 100mg of elemental magnesium (RDA is 350mg) daily for three months. Elevated insulin does eventually damage the kidney although i haven't got to the stage of retaining magnesium. I keep losing magnesium!

I answered another question about some (yes there are far more than that list!) of the symptoms of magnesium deficiency:


I am ordering a product from Life Extension called green coffee bean extract. This looks to be a natural alternative to metformin as it contains chlorogenic acid which inhibits gluconeogenesis (metformin's primary effect is inhibiting gluconeogenesis).

"The chlorogenic acid in green coffee bean extract targets the "glucose-6-phosphatase" in your bloodstream and blunts excess sugar levels (blood glucose measurements) by up to 32% -- after you've eaten foods that turn to sugar." I like the sound of that! :) But i'm interested in the cinnamon as well. Are you taking that in pill form?

I watched an excellent presentation last night and i highly recommend it! - The Food Revolution - AHS 2011.
Avatar universal
I don't think anyone's ever mentioned it to me before.

I have had to pretty much avoid carbs altogether since I did the gluten trial. Before that I was fine with gluten-free grains and flours and the like. I tend to feel more crabby and light-headed on low carb but my stomach doesn't seem to process them very well anymore so I just bear with it.

Thank you, and thank you Aquarielle's friend for taking the time and energy to read my question despite being ill! I really do appreciate it :)
Avatar universal
Really interesting stuff!  You're inspiring me to look into a few things.  :)

And, to answer your question, yes I do take cinnamon in capsule form.  

I buy 500mg capsules of cinnamomum cassia (but would love to try the verum variety, if I could find it locally - right now, I'd have to order it online all the time), and take 3 in the morning, and 3 in the evening, for a total of 3,000mg/3g.  I tried 2g/day, but it didn't help with weight loss which, at the time, was why I tried it.  (I read that quite often, among PCOS women; 3g/day was the "magic" number for weight loss.)  Now I better understand the long-term health concerns of excess insulin production, regardless of BMI.  

Maybe once I get to a weight I want to stay at (soon!), I'll taper down to 2g, or even 2g every other day...whatever works.  I'm not the sort of person who "takes" anything (other than whole, mostly organic, foods).  The only reason I was willing to try cinnamon is because...well...it's cinnamon.  I read the possible contraindications, and was not especially concerned.  As minor as most of them are, I have not experienced any of the potential side effects of regular cinnamon consumption, mostly because they're usually the result of 6g/day or more.

As for your IR symptoms, I only share the belly fat.  (...Would love to grow more, though!  I'm only 5' 4".)  That's the curious thing.  I have lost over 30lbs, and haven't lost an inch from my waist.  (I did, recently, measure an inch loss, but it came back.)  You see, I always had a teeny, tiny waist.  Say, from age 18-22 or so, my waist was 18".  Yup!  18"!  When big, fat, mid-80s belts went out of fashion, it gradually went up to a more reasonable 24", and stayed there.  Now, my waist is 36".  That's A FOOT bigger around!!  Yikes!  And despite all my weight loss success, there's no change in my waist.  

My body image is (understandably) stuck on my appearance for most of my adult life, where I was practically invisible when I turned sideways.  Now I have a belly and it's foreign to me.  I do ballet, yoga, and pilates, in addition to weights and run-of-the-mill cardio (treadmill, cardio DVD's, walking) but..........nothing.  I joke with my husband, "Where did that 30lbs come from?!?"  ;)
Avatar universal

I empathize with you on so many levels.  I share some of your troubling symptoms, and I'm so sorry you have such a long list of devastating symptoms.  And yes, to me anyway, it is punctuated by the fact you're so young.

I'm sorry my own discussions have somewhat hijacked your thread.  I am also searching for answers, and finding most of the healthcare workers I've dealt with (not all, though!) to be dismissive, at best (offensive or insulting, at worst).  I'm so thrilled to find some area of commonality that I tend to jump on it, to see if there is even the tiniest bit of information that could help me.  There's an answer out there, somewhere, for me.

I dearly hope you find your own answers.  What you're going through is neither fun nor funny.  Good luck!  Keep fighting!  :)
1756321 tn?1547095325
Very interesting about the cinnamon. I think i will try that and the coffee bean extract together. I just found out from my glucose tolerance test have moderate glucose intolerance (in other words pre diabetic). My fasting glucose is in healthy range but rises to almost diabetic level on a two hour GTT test!  I forgot a symptom of insulin resistance - numbness basically all over. My upper arms feel cold in particular. Insulin resistance is one cause of abdominal fat but there are a few other causes...

Causes of abdominal fat:

High insulin
High cortisol
High estrogen
Low testosterone
Avatar universal
Btw, you can just consume regular, ol' cinnamon, too.  If you look at the history of how it was discovered, of the IR folks in a study, the ones who ate apple pie turned out to be less insulin resistant.  Eventually, it was discovered it was the cinnamon in the apple pie that was causing it.  Later studies confirmed cinnamon improves insulin sensitivity.

It's pretty well accepted, given the varied sources.  It sure worked for me, with almost no reasonable question.  I'd been actively trying to lose weight for months, and keeping both a weight chart and food & activity journal.  No matter what I ate (or didn't eat), and no matter how intensely I exercised, I continued to gain weight.  

Literally, from the day I started adding 3g of cinnamon to my diet, I started losing weight.  I lost almost 1.5lbs that day!  And continued to lose weight daily, 'til about the 20lb mark.  I was REALLY skeptical, initially.  But the proof of the pudding is in the eating, and no one can argue with results.  :)  I have also kept off all the weight I've lost to date.  Then I mucked it up by changing my routine.  My weight loss stalled, until I went back to my old routine.  

I exercise in my home gym for about an hour every day, and eat mostly raw, whole foods, and very few processed foods.  My BMR is likely only around 800cal/day, so I try to keep my total calories in the 1,000-1,300 range.  I know that's tight, but that's the unforgiving life of a PCOS woman, I guess.  It's the only combination of factors that've worked for me.

If I eat something with cinnamon (such as oatmeal or chai tea), I will decrease the amount of supplemental cinnamon I consume that day.

But I opted for capsules specifically so I could regulate the exact amount I consume.  I'd never want too much, while too little is pointless.

Good luck with your experiment!  :)
Avatar universal
I'll give your thanks to my friend!

   If you want to get some idea of how likely Porphyria is, in your case, you could try these things on your own:

-- While you're having symptoms, eat carbohydrates and see if that makes you feel any better. My friend often uses honey because it's high in calories and easy to digest.

-- Research the foods which typically must be avoided to reduce or stop symptoms and, if it's medically safe to try eliminating them from your diet to see if it helps, you could try that. They don't all affect each person. A main one is anything with grapes, including wine which is a big trigger for many.

-- Some types of Porphyria have symptoms triggered by light. This includes sunlight and regular lighting, even TV screens, computer monitors, and cell phone light. I watched my friend get burns on the top of her feet while we sat in the doctor's office for maybe 10 minutes; she forgot her socks. Light can cause rashes or burns, or just other symptoms (or nothing if it isn't a trigger for the kind of Porphyria a person has). Early on in the diagnostic process, she thought it was a bit much, so one night her husband held cell phone, with its screen lighted, near her skin  and she got an actual burn!! She has a very severe case.

-- This will sound weird, but it's true. Some Porphyrics' urine turns a reddish or purplish color after some time being exposed to light. Urinate in a glass and leave it in the sun for a while (I can't remember exactly how long, maybe a few hours, but I'm sure you could find out online). If it turns color, you should definitely look into being tested. Urine may also be strangely colored at other times, or have an odd consistency.

    The good thing about Porphyria is that making the dietary, light-exposure, and/or lifestyle changes will Greatly reduce the symptoms and sometimes the person may be symptom-free or close to it!! This leads to a very different kind of life, but it is one with less illness and pain. Even if the symptom-inducing factors are cut by 1/4 or 1/2, it makes a huge difference. The medical treatment involves medications for symptom management, such as diuretics when there is significant water gain-- and I mean potentially Many pounds. My friend can look very pregnant one day and very thin just a few days later. There are treatments for acute attacks, which often land people in the ER; it's hard to get the right treatment and expensive, so getting a diagnosis or dedicated doctor is important. Delayed treatment of acute attacks can lead to organ failure; some people die simply because there was no diagnosis to know the right treatment, or because treatment is delayed. There is information on the American Porphyria Foundation website, for Porphyrics, about going to ERs

     Obviously, testing would be ideal, but it's hard to get doctors to listen or even test for it, and even then it doesn't always show up or the lab messes up. One genetics doctor told my friend that he'd tested a few people for Porphyria before and they didn't have it, so he didn't see the point in testing her. Yeah. She eventually found a good doctor and got a positive test result.General blood testing may show abnormalities which point to Porphyria.

    If you think you have this,  find a dedicated primary care practitioner and they can start looking into it by reviewing your Full medical history and past test results. Diagnosis would probably require seeing a hematologist and/or genetics doctor. Many different types of doctors treat it because there are so many body systems affected, but hematologists are the most likely to be familiar with the disease and know how to test for it. The American Porphyria Foundation has a ton of useful information about both the disease and how to find the best doctors and testing locations. There's also information for doctors-- because it's such a rare disease-- and they even have doctor education programs.

    I hope you get a diagnosis soon, whatever it is!!!
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