porphyria?

[mopinko]

never heard of it till the other day when my baby- aged 20, was told that she might have it. the kid has been sick since she was 9, dx'd w/crohn's, and had the strangest collection of symptoms/problems/dx's that there ever was.
she was sent to an allergist because she was breaking out from the sun. after looking over her whole medical record, which is about 2 gig, and looking at her skin, etc, said she thought this might be it. after her looking into it, she also found several oddball things that finally made sense.
they are waiting for her to break out again, and they will biopsy the bumps. after that probably genetic testing.
her older sister and i are both almost as messed up as she is, and we have figured for a long time it is genetic.

i have read the wiki, and know that sometimes it can kill you, and that is about it. and the only real treatment is a liver transplant.

anyone know anything about this?

[Warpy]

1. Get a name, find the foundation

http://www.porphyriafoundation.com/about-porphyria This will certainly get you started.

[womanofthehills]

2. I've heard of some vets having porphyria

http://www.publichealth.va.gov/exposures/agentorange/conditions/porphyria-cutanea-tarda.asp

from exposure to pesticides, herbicides and agent orange. Sounds like it can be inherited or be caused by chemicals. I had Multiple Chemical Sensitivity from pesticides sprayed by the city of Albuquerque, and all the symptoms were wierd. Yrs ago I was in MSC support group and porphyria always came up in discussions. Many people pee in a cup and put their urine in the sun or under lights and if it turns certain colors it might indicate porphyria. People who have the disease, say the wierd pee color thing only happens when they are having an attack.

[mopinko]

3. yeah the root word is purple.

pee turns purple or dark brown in the sun.
that "only when you are having an attack" part is what makes this so hard to find.

but kiddo had a lesion biopsied the other day, so hopefully we will know soon.
the bad part is they told her she would have to go to mayo clinic for treatment. that is not so terrible except that she was there last year, and we were not happy. both of us thought that they treated her like it was "all in her head" once they saw she was on psych drugs, and been hospitalized.
i suspect that is pretty common for sufferers. if the disease doesn't get you, the docs will.

[MADem]

4. She has a diagnosis now--it's not the most common thing in the world, but not impossibly rare either

She won't be getting the "all in her head" crap from now on out, particularly if she's seeing specialists.

[mopinko]

5. nothing like a biopsy.

that will go such a long way. she has fought so hard since she was just a little kid.

[MADem]

6. I wish her a return to health and a cure for her condition.

Being chronically ill sucks.

[freebrew]

7. My daughter has Acute Intermittent Porphyria.

Had stomach pains for a year, then a scope. The drugs used during the scope made things worse.
Her form of the disease, and mine, isn't a skin problem, it affects the nerves.

The doctors here wouldn't believe her when she complained, they couldn't find anything wrong. Accused her of being bulimic. She was 5'3" and 130 lbs.
She had a massive seizure, so they took her gall bladder out, more drugs and anesthesia causing worse problems.

We took her to a children's hospital, and after fighting the doctors and insurance companies, got to the bottom of it. A genetic test confirmed it. She had several doses of panhematin and is OK now. But a tragic 7 months.

[mopinko]

8. tests came back negative

they biopsied a couple skin bumps, and said that wasn't it.
so, back to square one.