Kickas.org Forums Ankylosing Spondylitis General Discussion #1 AS Web Support Group I tested positive for Porphyria (!?)

Yes, I am relieved to have a diagnosis - sorry if I didn't make that clear. Trust me. Very, very relieved.
I have a GP who diagnosed me... not really sure if I want to go back to some of my other docs. I have an apt with my GI doc on monday, and it will take everything in me to stay calm when I explain that her rudeness and unacceptable bedside manner last time were completely uncalled for (not to mention I came out of my endoscopy anaethesia on a stretcher in a very busy public hallway, by the bathroom doors, wearing nothing but a teeny hospital gown, and having random people staring at me?!? And then when Glen and I wanted to discuss the results of the endoscopy after the doc showed up, she said no because it wasn't private enough?!? What the?)
My neurologist I'm sure will be surprised. We've already been through all the neuropathy treatments available to me, so I think it'll probably be a case of better pain management. I think perhaps going to oxycontin rather than plain morphine would be a good idea.
Also a hematologist will probably have to make the call on the exact kind of porphyria have. I think. Not sure. Much to discuss with my GP next week.
Very happy to now be able to move on though.

slow burning carbs? i think i remember, the higher the fiber, the slower the digestion. also beans are probably the slowest burning if i remember correctly, why they are so good for diabetics, people with insulin resistance / prediabetes, like me. i know beans mess up some people's gastro systems, i've found lentils to be the easiest to digest. anyway, i'm sure you'll figure it all out.

as for talking to / sending a letter to that doctor. i've been tempted to do that with past doctors. not so much out of anger or "i told you so" but more in a helpful way, as you suggest. i haven't done it yet, but i've thought about it. i've even had a few good doctors who admitted they couldn't help me, but to please let them know how things turned out; they really wanted to learn from the experience. so i guess its your call.

Exactly! You said it so well, Sue. I don't want to do it out of anger (ok ya, maybe there's a part of me that would like to, but it wouldn't really accomplish much in the grand scheme of things).

I just want (hope) that the ER doc would take it as a learning experience, because it would kill me to know that he'd react the same way with the next patient with similar symptoms.

And I'd hope that my second GP would understand not to give up on a patient or tell them to quit digging for a single reason for all their problems.

I'm still struggling on what I'd say to my first GP I saw about this. The last time I saw him, he yelled at me, "THERE IS NOTHING WRONG WITH YOU". I left in tears and never went back.

Guess I just want something good to come of all this. And maybe prevent someone else from having to deal with the same. Maybe I'm just a dreamer. lol La vie en rose and all that. Lots of time to think about how to handle this.

About slow burning carbs - I'm learning that the neat thing is, they're all starchy. This porphyria/NSD thing isn't terribly compatible, so I think I'm going to have to learn to walk a very fine line between the two. There is a nutritionist at my clinic, so I think I should probably see her. Then again, some folks here on the diet forums are probably even more knowledgeable and wouldn't question why I want to stick to low starch.

Thanks Sue. I always really appreciate your replies. Hi to Mookie.

Hi Megan, it's bad enough dealing with PsA, but like you I have lots of CNS involvement. Until you mentioned Porphyria, I had vertually wiped it from my mind. I didn't realize it had anything to do with CNS. I new about having problem with many drugs (allergic to - low to no tolerance to - worsening daily). I new about photosensitivity, which has been very bad for many years. I was advised many years back to always wear a hat, and keep my arms covered at all times. The rashes on my arms, seem to be just below the skin, but worsen even under flouresent lights.

I have been diagnosed with MS twice (2005), Lupus (2008) once, but never diagnosed with Porphyria. Is it possible the doctors always missed the mark????

Guess it would not hurt to be tested again for Porphyria????

I read about how sleep apnea,restless leg, all the CNS, the unexplain elevated liver enzymes, high blood pressure and problems with the many drugs, are a part of Porphyria, all things I am dealing with.

I don't know where they sent my urine test in 1998, it's been 11 years ago now. Many of the symptoms I've had for many years before that. The CNS symptoms have gotten whole lot worse in the last 5 years.

I am going to the Psoriatic Clinic on the 16th, so I will ask that they test me again for Porphyria - if anything to rule it out for good.

I am hoping I am not dealing with MS/Lupus or Porphyria, but like you I have a lot of CNS involvement, and I want answers.

CNS Symptoms are

1) Auditory Processing Disorder - with other language skill problems
2) Sleep apnea with an occassional Central Apnea
3) Bladder problems
4) Involuntary head, mouth, eyes, arms movement
5) I stutter when stressed
6) Occassional no feeling in arms - always feeling like carpal tunnel
7) Not sure if this is CNS - problems with Adrenal/Thyroid
8) More dyslexic, dysgraphic problems

Does these CNS symptoms sound familiar.

Megan, I don't want MS/Lupus or Porphyria, but I want answers.

I am interested in hearing more about your diagnoses

Hugs
Gerri

So glad you finally got a diagnosis, Megan. I watched my ex, who did have a history of mental health issues, endure one incompetent doctor after another as they told her that "there's a very good chance that all this is just in your head, given your history and all." Every one of them--some of them female, for god's sake!--completely ignored what she told them about the physical pain she was feeling. In fact, those who had seen her full chart and thus knew a bit about her history were the worst, as I often literally sat there and watched their eyes glaze over or lose focus as they lost interest and drifted away the moment my wife would start talking. It was dang near criminal the way some of them acted, I tell you. Ever since then, one of my side causes when it comes to doctors and medicine is spreading the word about this unconscionable practice by so many doctors and battling to try to keep it from happening whenever possible. Too many men have no idea that their wives--sometimes their daughters--have such a hard time getting a doctor to take them seriously whenever they report symptoms that cannot be seen or discovered via testing. This is especially true when women report that they are experiencing some kind of vague or generic yet very real pain somewhere in their body, as too many doctors still instantly shift into "caretaker" mode and start issuing their empty platitudes . . . . "My, you've probably been working extra hard managing your job and all the housework, haven't you? That could cause some muscle pain in a very strong man, let alone a woman!"

Think that made up quote is an exaggeration? I only wish that was the case. I actually heard worse than that on several occasions while attending appointments with her. One of the most disheartening was when I took her to see my rheumatologist after she had struck out badly in trying to get her severe back pain diagnosed. My guy was the third or fourth doc she had seen, and I assured her that my doc was excellent and that he would get to the bottom of her problem. After all, he had been an excellent doctor in the several years I had been seeing him for my AS, as he had an excellent bedside manner, knew his field inside and out, and listened well.

As it turned out, he did those things only for men. As my wife explained the pain she was having, I could tell he wasn't paying full attention, and he hardly took any notes. When she was done, he did do a quick physical examination, but I was very unimpressed by it. At this point, I was baffled, but not upset. What the heck was going on? Was he having a bad day, or maybe it was something simple, such as he had already figured out what was causing her pain based on her descriptions? After the physical exam, he looked at the x-rays that had been taken in his office that day. With just one question, I knew the appointment had been an utter waste of time, and I felt both heartbroken for my wife and angry with my doctor. "How much do you weight right now?," he asked my wife.

Yep, that's right. He sat right there and looked at her x-rays and said they showed no real signs of disc damage, at least none out of the ordinary for a woman her age. No abnormal wear and tear, no signs of arthritis--hmmm, her problem must be her weight then! It's such a genius diagnosis in that situation because my wife was probably 50 pounds over her idea weight at that time, maybe more, and yet was unquestionably an absolutely beautiful woman, as she carried that extra weigth very, very well. Not that her appearance really matters in this case. By being lazy with the x-rays and his diagnostic skills, the doc had left himself only one out--her weight. Because yes, she was overweight, it was, of course, impossible for her to refute the diagnosis with any scientific fact behind her. She could have protested and told him that she had weighed roughly the same amount for four or five years at that point and that her pain was brand new and very localized in her back, while at the same time her knees and feet didn't hurt from the "excess" weight, but she knew there was no point. My heart broke when I looked over after the doctor's question and saw the tears form immediately (she wouldn't give him the satisfaction, however, and somehow fought them off until we were out of his office), and I also became angry.

She didn't even give an exact weight--she just told him bitingly, "That doesn't really matter; I know I need to lose some weight, but this pain is NOT caused by my "extra" weight--this is something much worse, and it's not in my head." (She knew that line was hanging unspoken in the air.) I jumped in too and told him that I had watched her since her pain and started and could see how severe the pain was, how certain actions--which she had told the doc--instantly triggered the pain. I continued by saying that falling back on her weight wasn't fair to her, nor was it the answer. He just kind of shrugged and said that nothing else was showing up, so he really didn't have any more suggestions. We'd heard enough, so we were out of there in a flash.

The end result? Less than six months later, after we had split for the first time and she was temporarily living with a friend with hers out of state, she saw a female doctor in her new location and, amazingly, received a correct diagnosis and total validation. While looking at the same x-rays my rheumy had said showed nothing, this doctor said that the x-rays, combined with the CAT scan she had ordered after seeing the x-rays the first time, showed very clearly that my wife suffered from a severe case of degenerative disc disease. So severe, in fact, that it was the worst she had ever seen and that it gave my wife the back of a 70-year-old (she was 30 or 31 at the time!). Lovely, eh?

That was the main event that made me realize I had to do my part to see that such travesties stopped happening--or at least happened less often--so since that time I have spread the word about the inadequate treatment of female patients whenever I can. Your story shows that the classic "it's all in your head" diagnosis (ie, brush-off) can be used any time, anywhere, and to blow off any set of symptoms, no matter how severe. The only requirement is that the symptoms in question represent a case that is harder to diagnose than the common cold, meaning they leave certain male doctors baffled and in need of an 'out.' These docs are usually older, white, card-carrying members in the Old Boy Club, but not always, as young males and even some apparently self-loathing female docs are helping to carry the torch. The worst instances of this abominable practice are the ones that happen in cases like yours, Megan, where the patient is actually experiencing symptoms that are part of an illness that could severely harm, or even kill, them with little or no warning. You desperately needed a correct diagnosis so you could feel safe and begin healing, but instead you kept hearing over and over that it was all in your head--heck, Megan, you just needed to take it easy and not work so hard around the house and not let the stress of your daily life get to you. After all, you weren't really sick!

Piffle. As I said at the start, I am so, so glad that you finally got the diagnosis you needed so badly. Now, I hope that you can put together a team that can help you fight off this disease in the best ways possible.

Brad

Oh Gerri, I knew you were going through alot, but this is REALLY alot. I'm so sorry you're dealing with this and still have so many questions. I completely understand not wanting it, but wanting to find out what's causing it all. I'm certainly the furthest from an expert on this, but I would think bringing it up with your docs again certainly wouldn't hurt, especially if it's been considered in the past. You deserve answers.

If you have a doc willing to work with you on it, get a urine test done when you're having an attack. I'm not sure if you have episodes of it? In the past 3 years, I'd say every 2 to 8 weeks I get a "flare" of severe nausea and vomiting. Eventually the small fibre and autonomic neuropathy occurred because I guess my attacks were completely uncontrolled and unmedicated. Going low carb (unintentionally) and fasting probably didn't help matters. With my worst vomiting flare, my urine was almost red (sorry, too much info), and I wasn't able to keep down even sips of water for 2 days (ended up in hosp). I was always limited in that all my lab tests were normal (minus an acute infection and markers for another unrelated disorder) until I got the results yesterday.

My neuro symptoms are only deep, severe leg pain (that's the small fiber neuropathy) mostly in my thighs, and sometimes severe burning feet pain. There's also probable damage to the nerves of my stomach (causing gastroparesis, pain, and vomiting). I use gaba and morphine every day for that, and zofran most days for the vomiting. Oh ya, and I have chronic telogen effluvium (diffuse hair loss on my noggin), and it won't grow longer than an inch or two.

The weird thing is, my nerve pain stops when I go to sleep. I know. Weird. Getting to sleep is sometimes a challenge, but it very rarely wakes me up. And I usually get an hour or two in the mornings free of leg pain. I don't understand this one bit, but there it is.

I've just recently read (can't find the page now...) about alot of psychological and neurological symptoms associated with a bunch of different types of porphyria. Do you have a helpful neurologist by any chance? I wonder if they would be able to help figure it out.

And I hope you figure it out. It just sucks wondering what's going on when you have symptoms that won't let you live the life you want.

Hang in there Gerri. Loads of hugs

No neurologist on board - will be asking for referral to one at Toronto Western, on the 16th. I will go threw my Rheumy, as she is at Toronto Western.

As your talking I can see my symptoms vary from yours. I have lots of gut problems, burning ankles (gout was mentioned), no uncontrolled vomiting, hair loss (use to have it long until - it started falling out in clumps). Have trace blood always in urine.

I use Seriphos to help me get to sleep. I wake often, or move around alot because of pain.

If only I had answers. I know I won't be getting much medicine help for pain, depression any other health issues.

Maybe my urologist was right it's MS.

Thanks for writing your symptoms - they help me understand about Porphyria - Glad your doctor finally gave you a diagnoses, you have been through a lot. There is lots of meds a person with Porphyria can take - just not me. My sulfite allergy will be problematic and my Rheumy is concerned.

Hugs

Gerri

brad,

thanks for sharing that

Oh Meggy..... lost for words as there is a lot there to take in but so pleased that at least you know now - that doc has come through for you. We all knew it wasn't in your head.
Read your comments re wanting to let that a*rse of a doc know, as well as Brads post (way to go, BTW, your poor ex...). There are a couple of docs I'd like to update in the hope that they'd be interested and learn something...

Big fluffy hugs heading your way. Hope you get a treatment plan sorted soon.

This is an example of how having knowledge is power and you are doing just that...knowing what you're dealing with allows you to dive into research to help you help yourself in treating this. Curious, did any previous dr run tests for this and if not, what made your current dr decide to do so? Best wishes to you!