Who do I see for porphyria?

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?

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.

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?

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

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

Hi,
I will check!
Thx
C

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

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

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/

Great thx!
Best regards
Clive