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

I know you are glad to have a diagnosis. I am just sorry that you needed one. I wish we didn't have a need for a forum like this but then I wouldn't know all of you.

I don't know what Porphyria is so I will have to Google. I wish you the very best.

Hugs and Blessings.
Possi

OK I Googled it. I am so sorry you are so sick. That is a lot to deal with. I will be praying for you.

Aww Brad, Thank you so much for writing out that reply. Glen and I both sat here and read it, and I have tears in my eyes for you. And your poor ex. I shake my head at what you two have been through. How awful for you guys, and totally unnecessary. I would love to sit down with you and have a drink and talk about this. Bet we could go on for hours. I know I could! I think Glen and I (and no doubt, alot of other readers here) really identify with your story. It's still shocking, in this day and age, with all sorts of medical advances, some doctors still resort to the old "must be psychological" diagnosis. True, some disorders may in fact be psychological, but until every other single possible cause is factored out, I don't think anyone deserves the "all up there" talk. Seriously, I don't understand why doctors can't admit to simply not yet knowing, and just saying that they need more time to investigate it, run more tests, consult a colleague, refer to a specialist, etc. That doc in the ER had known me for maybe a couple of hours before I had my headcase diagnosis. (Btw that was the first time I've ever seen my rather verbose boyfriend completely silent!) Is it a pride thing? If they don't know, do they feel inferior or something? Maybe, like you suggested, in his mind he'd just decided he was no longer interested in figuring out a difficult case, and that was his "out". That simple. And no consideration to the ramifications of his remarks is what shocks me. I would not be able to sleep at night, if I were him. I think we would all agree that "I don't know" would be much easier to digest than "it's in your head"... but then again maybe some doctors find that harder to dish...
May I ask... did you ever see that rheumy again? Just curious.
Thanks again Brad. I hope your ex was able to get proper treatment and recover.
Lots of hugs

Hi Gerri, there is a huge list of medications that induce attacks of porphyria, and sulfa drugs are on the list. I'm reading that porphyria can cause a huge range of symptoms, kind of like MS or lupus. It's not difficult to test for, so maybe it's worthwhile just to check. Although I really hope you don't have it, I really hope you get some sort of answer. I'm relieved to hear you can get referred to a neurologist - sounds like that would be really helpful in your case with all those CNS symptoms. That's got to be challenging to deal with all of that.
I'll be thinking of you, so please update me with any news.

Em, thanks for that. I keep thinking about you! How is everything regarding your iron levels and such? Does your doc have any more ideas? I'd love to hear how you're doing.
Lots of hugs back your direction!

hi Megan,

It's awful what I've beenreading . You have had the worst trial of diagnosis. I know your experience with the inept doctors, same happended here. But a keep trying and you did. On several occaisions I felt your same releif when a diagnosis was finally found and made. It felt like a weight being lifted and being given a chance to now know what IT is and work on making it better.

I hope you can soon and get some needed releif sooner than later. All my very best wishes you make it through the next phase with greater than past results.

Lucy

Megan honey - thank goodness for a certain diagnosis! And this is something I can actually learn something about - one of my best friends has it, her mom had it, and my mom's next door neighbor has it, so I have a few people I can interview. I don't know too much about it at the moment but I'll have some first-person accounts soon.
This is way doable. It's not the most awesome thing ever, but it's doable. Not harder than AS. (once you know what it IS, at least lol)
thank goodness. I've been so worried about you! amyloidosis sounded scary . . . I know porphyria isn't a walk in the park, but now that you have a dx you can work on it.

. . . "a high-carbohydrate diet is typically recommended" . . .
I'm curious what you want to do about that.

I'm researching. obviously not medical papers like you have, but research nonetheless

hug
Bridge

Hi Megan,

Here's what the haematologist husband had to say:

Having HS would mean that you would have low grade haemolysis ALL THE TIME. If you have a problem with the porphyrin metabolism pathway (liver enzymes) this is gradually going to cause you a problem. He says that you can get a 'cascade' effect on haemolysis (with HS) from simple things like stress (yah - like there's none of *that* in your life...) sunburn, getting a cold etc. Of course, getting on a plane is likely to make it worse, too...due to the surface tension of the RBCs in HS and the reduction in the atmospheri9c pressure.. Having the Gilbert's will compound the whole situation.

This will cause you to have a mini haemolytic crisis, thus the 'cascade' event and the much larger amounts of porphyrin that your liver has to deal with. He says that the 'port wine urine' is CLASSIC and a donkey should have heard the alarm bells go off with this one - how does a loopy chick make her pee go red for goodness sake??? All in the head - yeah, right!

He said all sorts of other things about porphyrin degradation pathways, big long words - sounded like he was swearing in "medical", so I said - "Good, thanks..."

He says that you MUST get yourself SOON to a specialist haematologist. It may be hereditary porphyria, but he also wonders whether the porphyria is a result of something that is triggering these 'cascade' events in a person with Gilbert's and HS. Only a Very Clever Doctor (aka: specialist haematologist)can figure this stuff out. Lots of specialty blood tests, and plenty more pee in the cup, I would imagone...

It's not really his area of interest, (he's a leukaemia and lymphoma man) but once he got going - well, let me say it was a long conversation! He has pointed me to a textbook, but it probably uses more swear words than he did!

Hope you get some answers to the mystery soon, and that it's not too late to reverse some of the nerve damage.

to you - come to Oz for a holiday, and you can continue this conversation with him. Hey, what will I cook??? Dunno how to do high carb NSD!!! Oh well, back on the learning curve, I guess...

Hi Megan,

Glad you and Glen got the value out of my post that I hoped you would. As I said, it is definitely one of my pet causes and one that I am willing to campaign wholeheartedly and, if needed, militantly in order to bring about even the smallest change. One of the things I am proudest of in this area is that on two occasions now, the talk I had with two female friends before they went to doctor's appointments with mystery symptoms ended up leading to far better appointments than they would have had if they hadn't talked to me first. In both cases, their doctors were clearly in full blow-off mode, but because they were ready for this, they blew right past the doctors' blow-offs and kept peppering the lazy you-know-whats with questions until they were able to convince the doc to prescribe additional tests (or, in one case, visits with a specialist) while admitting that there must be some kind of real problem that was not just in their heads. Because they knew what to expect, and because they took it to heart when I explained to them how, in every interaction with a doctor, WE are the boss and THEY are the employee. they refused to settle for inadequate service that they felt was clearly based on their gender. When telling me about their ultimately successful appointments, both said that being told that they were the boss every time they walked into any doctor's office opened their eyes and for the first time left them feeling empowered when they went in for their appointments. Hearing all this, I was SO happy that both had managed to avoid bad appointments and being added to the "it's all in your head" club, and I felt very satisfied that I actually HAD made a difference in the on-going battle to end unequal treatment received by female patients from doctors of all types. Knowing I made a difference for those two is what makes me talk about the topic here when I can, and it also makes me keep my ears open whenever my female friends discuss medicine in any way--I'm always up for giving my "you're the boss and your symptoms definitely aren't in your head!" pep talk!

Thanks also for your concern and kind remarks about the medical struggles that both my ex and I went through when we were together. The sad thing is, I've really only scratched the surface here when it comes to writing about some of the things she has gone through in the years since we first met in 1996. It was sadly ironic, actually--she told me when we first met that she had been extremely healthy her entire life and had nothing worse than a common cold when it came to physical ailments (she was always open and honest about her mental and emotions struggles, as was I when it came to my AS). For about the first two years of our marriage, that was still the case, but after that, things really unraveled quickly. In recent years, her type 1 diabetes and DDD have worsened and she has really gone through some tough stuff. Because we are still good friends, I continue to help her out when I can, and it still breaks my heart to watch her suffer so much.

As for me and my status with that rheumy, funny you should ask. I did actually intend to continue seeing him, as it had taken me years and years to find a rheumy who I trusted and who really knew a lot about AS. This even included alternative treatments--he didn't believe in all of them, nor did he put much stock in the NSD, but he at least followed any and all new information that had any implications for AS patients, which is far more than I could say for any other docter I'd had before that. I did talk about it with my wife before I made my decision to stay with him, and while she was obviously completely unimpressed with him, she understood why it would probably be a good idea for me to stick with him given my age and the severity of my AS.

When I called his office several months later to make my next appointment, however, I learned that, as Depeche Mode has noted, sometimes God has a sick sense of humor. I was told that the doctor was on extended medical leave and would no longer be seeing patients, at least for the foreseeable future. That's all they could tell me, of course, but it was obvious that something serious must have happened--I was thinking maybe heart attack (he was in his late 50s, early 60s, although he wasn't overweight and seemed to be in good shape) or cancer given the fact there was no date given for his expected return. I agreed to see another doctor in his practice, and I also ended up liking her and have been with her ever since.When I later went to see my primary care doc, I finally learned what had happened to my rheumy, as the two of them had been friends for some time, had once worked for the same hospital/network, and attended the same synagogue. While he didn't give me specific information, seems the doctor was hit hard by some kind of serious heart disease--I've come to suspect congestive heart failure--and was in very bad shape (he had almost died at one point). This was quite a few years ago, and I just assumed the doc had ultimately passed away, although my doc had never said that, nor had their ever been any kind of announcement from his practice in case any of his former patients wanted to attend the funeral. In fact, he is still alive and still battling whatever heart condition he has; at my last visit with my primary care doc, his name somehow came up and I was told that he is in fact alive but had deteriorated to the point that he needed a heart transplant very soon or he would not survive much longer. Sad news, for sure, as I do know he helped me and undoubtedly did help other patients, even if all of them were male.

I'll add you (and Glen) to my long and continuously growing list of AS kickers with whom I'd love to sit down and have a drink (or two) someday!

Brad

Glad to hear you have a GP with a clue. Now you can start treating it appropriately now that you know what "it" is.