Who do I see for porphyria?

Posted by daisy249 @daisy249, Aug 23 5:17am

Are there any doctors at Mayo Rochester , or in MN, that specialize in Porphyria? I’m lost, as it a rare disease. High urine porphyrins, all symptoms and acute attacks are severe.
To complicate things, I also have have nodal marginal zone lymphoma, sjogrens, pernicious anemia/b12 deficiency and other malabsorption/deficiencies. High kryptopyrroles indicating pyroluria , substantiated by b6 deficiency ( awaiting zinc and copper labs).
I’m not a dr, I can’t continue to find these things on my own at my own expense and once found, I certainly cannot treat.
Can anyone point me to some doctors with specialty these conditions?
I have specialists for Sjögren’s and lymphoma, the rest are positive tests, no official diagnosis and nowhere to turn.

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Hi @daisy249, and welcome. Given your multiple conditions and need for a multidisciplinary care team, I would encourage to seek an appointment at Mayo Clinic. You can self refer. Get started here: http://mayocl.in/1mtmR63

Here is more information about the hematology and rheumatology departments at Mayo
– Hematology https://www.mayoclinic.org/departments-centers/hematology/home/orc-20201280
– Rheumatology https://www.mayoclinic.org/departments-centers/rheumatology/sections/overview/ovc-20477132

Now back to porphyria. I'd also like to bring @wishingtobepain and @steeldove into this discussion. They have experience with porphyria.

Daisy, what type of porphyria do you have? How long have you been dealing with this?

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I am unsure if I have it, but have high corproporphyrin iii ( I think it was iii) in PBG test, I was not in any type of flare. I don’t really have the skin symptoms, so doubt its the cutaneous type.
Symptoms forever, always attributed to other maladies, but treatment of those things has not led to improvement. I thought the vomiting and diarrhea was from CPTSD.
I have a porphyria genetic test form , hopefully my gp will fill it out. I am established with rheumatology and hematology at Mayo, but getting appointments, transportation and a long enough appt to get questions answered is tough. They also subspecialize so they only treat specific issues.

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I have had porphyria in the Family. It took the Mayo to find for my brother. I have many symptons but it does not show up. I no longer go in but is gets pretty bad. Any ideas?

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Hi there,
just saw your question re Porphyria. My brother (now lives in seattle) has had it since he was a child. Severe reactions to sun and wind. swelling, pain etc. Parents thought is was a bad sun burn until he got blood confirmation years later. 2 of his children (in their 30's ) now have it. they have all been on an new experimental drug for a couple of years. actual and control placebo etc. it has worked amazing! his skin pigment has changed. are you interested in the name etc?
cheers

clive
vancouver Canada

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@clive1395

Hi there,
just saw your question re Porphyria. My brother (now lives in seattle) has had it since he was a child. Severe reactions to sun and wind. swelling, pain etc. Parents thought is was a bad sun burn until he got blood confirmation years later. 2 of his children (in their 30's ) now have it. they have all been on an new experimental drug for a couple of years. actual and control placebo etc. it has worked amazing! his skin pigment has changed. are you interested in the name etc?
cheers

clive
vancouver Canada

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Do you know which type on porphyria he/they have? you

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@daisy249

Do you know which type on porphyria he/they have? you

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Hi,
I will check!
Thx
C

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Hi,
I reached out to my brother . He says it is Eryrthropoetic Protoporphyria if that helps!
I can find out the treatment plan and meds etc if you like .
Cheers
Clive

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he in on the trial scenesse.
link in American porphyria foundation
for resources

he things Mitsubishi is exploring tablet forms soon. car-azy!

hope it all helps

clive

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@clive1395

he in on the trial scenesse.
link in American porphyria foundation
for resources

he things Mitsubishi is exploring tablet forms soon. car-azy!

hope it all helps

clive

Jump to this post

Thanks, @clive1395, for finding out more about your brother's type of porphyria and treatment, namely he was part of the trial for Scenesse (afamelanotide) for treatment of Erythropoietic Protoporphyria (EPP).

I also noticed that you wanted to post a link with your message. You will be able to add URLs to your posts in a few days. There is a brief period where new members can't post links. We do this to deter spammers and keep the community safe. Clearly the link you wanted to post is not spam. Please allow me to post it for you.

– Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP) https://porphyriafoundation.org/for-patients/types-of-porphyria/epp-xlp/

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@colleenyoung

Thanks, @clive1395, for finding out more about your brother's type of porphyria and treatment, namely he was part of the trial for Scenesse (afamelanotide) for treatment of Erythropoietic Protoporphyria (EPP).

I also noticed that you wanted to post a link with your message. You will be able to add URLs to your posts in a few days. There is a brief period where new members can't post links. We do this to deter spammers and keep the community safe. Clearly the link you wanted to post is not spam. Please allow me to post it for you.

– Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP) https://porphyriafoundation.org/for-patients/types-of-porphyria/epp-xlp/

Jump to this post

Great thx!
Best regards
Clive

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@clive1395

Hi there,
just saw your question re Porphyria. My brother (now lives in seattle) has had it since he was a child. Severe reactions to sun and wind. swelling, pain etc. Parents thought is was a bad sun burn until he got blood confirmation years later. 2 of his children (in their 30's ) now have it. they have all been on an new experimental drug for a couple of years. actual and control placebo etc. it has worked amazing! his skin pigment has changed. are you interested in the name etc?
cheers

clive
vancouver Canada

Jump to this post

Thanks for the info. Just found my way in. My trouble is getting it diagnosed. The Docs have all done one test and said no. That is not how it works as I have found out.

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@colleenyoung

Thanks, @clive1395, for finding out more about your brother's type of porphyria and treatment, namely he was part of the trial for Scenesse (afamelanotide) for treatment of Erythropoietic Protoporphyria (EPP).

I also noticed that you wanted to post a link with your message. You will be able to add URLs to your posts in a few days. There is a brief period where new members can't post links. We do this to deter spammers and keep the community safe. Clearly the link you wanted to post is not spam. Please allow me to post it for you.

– Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP) https://porphyriafoundation.org/for-patients/types-of-porphyria/epp-xlp/

Jump to this post

Hi, thanks for running this. I just found it. My brother had it for years, the acute kind. He would go to the ER with no luck. 30 years ago folks did not see it so much. His name was Perer R. Fisher and he ended up going to the Mayo clinic in the 80's where they finally found the reason. It was bad. Anyway, is the genetic test best?? I no longer go to the Doc but I need to get a grip on this at 64.

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