OT-Porphyria..anybody know about it? | Arthritis Information
Does anybody know anything about Porphyria?
My daughter, adopted when a baby, now 29, has just been diagnosed with this rare disease. I don't know which of the 8 types she has yet... more tests are being done today, but her blisters and dark purple urine are there. Her doctor is very concerned because her Lupus and Polycystic Kidney Disease has already caused serious kidney problems and this might aggrevate her fragile stability that took 2 years to achieve. She has just had her first solid year (since age 17) of feeling good so began walking outdoors. Sunshine is apparently very bad for lupus and this new thing, porphryia. I wish she lived closer to me than the 8 hour drive. If anybody knows anything about porphyria, I sure would like to know. It's confusing when just reading about it on the internet.
Lupus, Polycystic Kidney Disease, Porphyria are all genetic diseases. My sister wondered what kind of mess our Vanessa's biological family passed onto her. I had to remind her that nobody in our family has our diseases (me-RA+UC, sis-Diabetes), or at least as far back as anybody knows. My poor daughter lives on her own and just opened up her own business with a coworker-partner so needs to work hard for next few years. She has been researching fun adventure groups to go do something special for her 30th birthday, but what if now she cannot spend much time outdoors?
CathyMarie
I quickly googled and read on wikipedia... it says that this disease can mimic others and maybe she doesn't have Lupus?? and that all of them are not genetic. I wish the best for your girl, CathyMarie.
Given the many presentations and the relatively uncommon occurrence of porphyria the patient may initially be suspected to have other, unrelated conditions. For instance, the polyneuropathy of acute porphyria may be mistaken for Guillain-Barré syndrome, and porphyria testing is commonly recommended in those scenarios.[4] Systemic lupus erythematosus features photosensitivity, pain attacks and shares various other symptoms with porphyria.[5]
Not all porphyrias are genetic, and patients with liver disease who develop porphyria as a result of liver dysfunction may exhibit other signs of their condition, such as jaundice.
Cathy, I don't know anything about this, but you have my sympathy for what your daughter is going through. Nothing hurts worse than seeing someone you love so much suffer. She has really been through the mill, no? It is so much the worse having that distance between you!
You can probably help her best by doing what you are doing, helping her research and finding out how to best handle her Lupus and, now, Porphyria. All the best to you both and please, keep us posted.
Babs....she's had Lupus for about 10years, pos ANA, occasional episodes of bad mouth ulcers, asthma, 5months lasting pneumonitis, 2years of scary kidney disease, and last Jan more kidney and pneumonia problems but it only lasted 2months. Both kidneys have Polycsystic Kidney Disease and occasionally a cyst will burst, causing much pain & nausea. She's been doing so well since last March. I can't find any other disease that causes both skin blisters and dark purple urine besides this porphyria. I hope the newer, more thorough testing identifies it as the least terrible version. The others require big treatments ie frequent, ongoing transfusion or plasmaphoresis or IV injections. Maybe she'll only need to slather on the highest number (80?) sunscreen and wear hats and Coolibar clothes with sunscreen in the fabric. And that her kidneys won't respond badly to this added disease.
Waddie...yes it is very hard as a mother. My younger daughter was more cuddly, stay at home, mommy's little girl. This daughter, only 17mo older, has been sick with unusual things throughout her life.. for example, 4 annual episodes of Scarlet Fever with lab and every symptom in the book... we got pretty blase about it. She has also always been happy and very busy both with the family and with others; outgoing, extravert, happy, very very smart and talented in anything she does (a musician too) yet always cheering other people on for their achievements too (a good, effective leader). Once she went to college, I was no longer in-charge of her health so tried to keep tabs on it. I had to convince her that if she didn't tell me everything, I would worry so much and never believe her when she says all is ok. Luckily, there's no doubt when she's very ill; she wants me with her. It's a good thing she didn't need me this past year when I was going through my surgeries and 3-4days/week of PT. You are right, I do research for her. I also try to try to think of things as a whole picture, which as we here all know, can be hard with specialists. Later in the 2 years of kidney trouble, I told her that her mom insists her doctors review how much radiation she had from all the repeating scans, nuclear meds, xrays not only of the kidneys but the long illnesses of lung trouble and broken leg. They did and it alarmed them so much they banned her from more for at least 9 months... ultrasounds only allowed. Talk about being an advocate! After that I tried to be more vigilant, but it's hard when I'm not there. .... thanks for listening. Oh, by the way, stress in my life never makes my illnesses worse.. not even the bowel disease diarrhea. Odd, but lucky.
Cathy
oh my CathyMarie.
I feel so bad for your daughter...... that I should ever EVER complain is ridiculous with what she's endured in her young life...
she's blessed to have you as her advocate.
I will keep her in my prayers
Well you are both in our prayers. It seems to me that a family history of diseases should be required during the adoption process. These kids have a right to know what they are up against.
Keep us in the loop. I am sure they will soon find out what type it is. Genetic testing takes several months.
Her doctors wish they had her family history but she has never sought it. I gave her a copy of every paper from the adoption agency that would make the search possible. She asked for it all before her high school graduation, her college graduation, and when Polycystic Kidney Disease was diagnosed, but then never went further. She said she doesn't want to knock on the door and say Hi, I'm your daughter, I need you to be tested... or... Hi, I'm your daughter and I need your kidney! Ha! Luckily, she is not in need of anybody's kidney. Testing of the parents and also both sets of grandparents are necessary to 100% confirm diagnoses ie for Polycystic K D, and I guess this Porphyria.... not for any treatment decisions. If that's the only reason she would want to meet them, I can't blame her for not doing it. I have tried to reassure her that I do not feel threatened that she will bond with them instead of us... she is 29 years old and utterly devoted to us and we all know what's important about family.
Cathy
me again...
I was just thinking... if it ever came to it, would I be accepted as a candidate to donate a kidney? Does RA or the meds matter?
Cathy
me, yet again...
There is one type of Porphyria that needs bone marrow transplant. Can I donate that?
Cathy
CathyMarie, you and your daughter are in my thoughts. I have a godchild who has arsenic-induced porphyria (she too was adopted; from South Africa). Watching her struggles and progress through the years has been an inspiration.
As she nears puberty the main concern is for HCC (heptacocellular carcinoma). Although certainly not humourous in the normal cource of life, her urinary and fecal output has become somewhat of a running joke as to what purple descriptive can be applied today.
My very best wishes to your family, Shug
If you have RA I do not think you can donate bone marrow or anything else. Plus they have to find a match to who ever they get the bonemarrow from.
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