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

IT'S NOT IN MY HEAD!!!

Oh wow.

What a crazy, emotional past year.

And after SO many docs literally telling me to my face, in those words, "It's all up there." While I have so much pain, and the weirdest array of symptoms. I was honestly beginning to think, at times, that I was losing my mind. It has been absolute hell at times. I lost faith in myself. All the tests were coming back very much normal, until today.

I tested positive for Porphyria. I *just* got the call from my GP. I was out going for a walk when he called, and I literally dropped the phone and almost fell over.

I have alot of research to do - my doctor is doing alot as well, as he admitted I'm the first patient he's had that's tested positive for it. We want to re-run the test again, just to be sure on this, and then he'll refer me on to the appropriate specialist(s).

What this means, I have no idea. Right now I'm so relieved that I can start taking the next steps forward!

(Lisa, thanks for being there so much for me in the past year... love you!)

Not sure to say "That's great - an answer!" or not Megan...but it could explain all the puking and the neuropathy and pain!!!

I will have to pick my hubby's brains tonight - he's a haematologist.

About all In know about porphyria is the story of the "Mad King George" who apparently had it...

to you,

Louise

Megan, it sounds like you will have some answers, some relief and I am pleased for you... I hope this will help you to get proper treatement and care and that things will look bright!!!

However, I am *repulsed* to hear of yet another story of a young woman with physical pain and symptoms being told or having implied "it's in your head" aka "you're crazy"...

Plying young women with antidepressants, anti-anxiety meds, like myself and WAY TOO MANY OTHERS has become FAR too commonplace and this has got to stop. I mean really, how many hypochondriacs are out there, really?? MDs love statistics, maybe they can apply some here, along with some common sense.

If there is one area of improvement and change in culture NEEDED in the healthcare field, it is to STOP assuming people are imagining symptoms for attention or just to ANNOY our doctors. I don't know where this method of thought by MDs originated, but something NEEDS to change. When someone seeks out health care, they should not be treated as though they are mentally ill just because there is not a blinking sign on their forehead with a diagnosis. It is inexcusable and I pray for an end to this ill advised, irresponsible culture.....(ok, now I leave my soapbox)

Bless you Megan.
Jess xo

WOW my Sweetheart!

I think this is totally awesome! It all makes sense now..the low white counts, the horrible pain, nerve pain and all the horrible things you have been thru.

Now your best frined is going to be Heme right??? Make them do right by you girl, you so deserve this just like you deserve to be pain free.

Im so excited I just want to hop on the first plane and get to you and give you a HUGE hug!

Although I do want to remind you that I NEVER once thought this was just in your head..lol I have seen how much suffering you have done.

YEA!!!!!

Tell me what the next step is when you know and I would tell your Dr. I want an appt ASAP to start treatment, none of this months waiting crap!

I can't wait to talk to you!

Hugs,

Lisa

Oh Megan! You have been through so much!!!! At least you have a diagnosis. I look to my trust medical dictionary - wikipedia - and found two interesting sections in the porphyria section.

Treatment
Acute porphyria
Carbohydrates and heme
Often, empirical treatment is required if the diagnostic suspicion of a porphyria is high since acute attacks can be fatal. A high-carbohydrate diet is typically recommended; in severe attacks, a glucose 10% infusion is commenced, which may aid in recovery.

Hematin and haem arginate are the drugs of choice in acute porphyria, in the United States and the United Kingdom, respectively. These drugs need to be given very early in an attack to be effective; effectiveness varies amongst individuals. They are not curative drugs but can shorten attacks and reduce the intensity of an attack. Side effects are rare but can be serious. These heme-like substances theoretically inhibit ALA synthase and hence the accumulation of toxic precursors. In the United Kingdom, supplies of this drug are maintained at two national centers. In the United States, one company manufactures Panhematin for infusion.

Haem Arginate (NormoSang) is used during crises but also in preventive treatment to avoid crises, one treatment every 10 days

Any sign of low blood sodium (hyponatremia) or weakness should be treated with the addition of hematin or heme arginate or even Tin Mesoporphyrin as these are signs of impending syndrome of inappropriate antidiuretic hormone (SIADH) or peripheral nervous system involvement that may be localized or severe progressing to bulbar paresis and respiratory paralysis.

Symptom control
Pain is severe, frequently out of proportion to physical signs and often requires the use of opiates to reduce it to tolerable levels. Pain should be treated early as medically possible due to its severity. Nausea can be severe; it may respond to phenothiazine drugs but is sometimes intractable. Hot water baths/showers may lessen nausea temporarily, though caution should be used to avoid burns or falls.

All the best!!!!!!!!!!!!!!

Farinelli

Well gee, Megan, I always knew it wasn't in your head and I didn't have to spend years in med school to figure it out. What's up with the doctors?

Seriously, I don't know whether to be thrilled that you finally have a diagnosis that makes sense, or sorry that you have been diagnosed with a nasty disease.

In any case, an answer is a good thing because now you can go about getting appropriate treatment which can help you feel better.

Is the porphyria diagnosis in addition to AS or instead of AS?

I'm delighted that you are finally getting some answers, girl!

Karen

Finally an answer! But not a great one. I'm sorry Megan. At least now you can get some form of treatment.

I really don't know what to say. I'm truly sorry.




Chelsea

Louise! Oh... I wish you and hubby would really move to Canada now! I'd love to pick both your brains on all sorts of things. I also have hereditary spherocytosis, Gilbert's (also hereditary in my fam), and now this. So many blood disorders for one little person - and all inherited from my mom, who inherited them from her mom.
I just told my mom about the porphyria and she said "Now where on earth would you get another rare thing like that?" "Umm... probably YOU." lol I had to explain it's yet another autosomal dominant disorder. She also passed her lovely AS gene onto me as well.
Honestly, my head is spinning with all the things I'm reading right now (med library, not general internet stuff). It sounds like acute intermittent porphyria as I have no sun sensitivity. That's actually the reason I wrote it off in my first few searches of possible causes. I didn't realize there was one form that didn't cause sun sensitivity.
And it really, really explains why my mom has so many of the same symptoms. She's had bouts of severe abdominal pain for years, without tests showing anything abnormal. I'm not a betting woman, but I know exactly where I'd put my money on this one.
Wow, I sure hope I don't end up crazy like King George III. I just read the story. That's just great. So if Glen tells me I'm acting crazy, maybe he's right? lol I don't think I've lost it just yet... but there's always hope. Ha!

Hey Megan! Here are a few other sites that may be of interest! I did see in the mayo clinic article that certain diets can trigger the condition in genetically susceptible people. One main treatment is glucose. If glucose and carbs in general are the treatment could a lack of them be a partial cause? Could the NSD play a role?
http://www.mayoclinic.com/health/porphyria/DS00955
http://www.porphyriafoundation.com/

Hi Jess. Thanks for that. It sounds like you too might have heard the all in your head thing too many times. I'm truly sorry if that's the case.

You're right, doctors should know better than to just excuse a patient just because they have strange subclinical symptoms. If my previous doctors (let's count them now: 3 GPs, 3 neurologists, a gastro doc, and a rheumatologist, for a grand total of 8 doctors!!!) had taken the time to take the WHOLE PICTURE into consideration before my 2 year long episodes of vomiting turned into severe, probably irreversible peripheral and autonomic nerve pain, then maybe I could have prevented it all! There is a good chance I'll need around the clock morphine and high dose gabapentin for the rest of my life - because no one took a moment to address the patient as a whole. I could go on and on, I'm so livid....

Now who's on the soapbox!