1. < Blood Cancers & Disorders

Who do I see for porphyria?

Posted by daisy249 @daisy249, Aug 23, 2022

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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timoteo | @timoteo | Sep 24, 2022
In reply to @clive1395 "Hi there, just saw your question re Porphyria. My brother (now lives in seattle) has had..." + (show)
@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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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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timoteo | @timoteo | Sep 24, 2022
In reply to @colleenyoung "Thanks, @clive1395, for finding out more about your brother's type of porphyria and treatment, namely he..." + (show)
@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/

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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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2 replies
Moderator
Colleen Young, Connect Director | @colleenyoung | Sep 24, 2022
In reply to @timoteo "Hi, thanks for running this. I just found it. My brother had it for years, the..." + (show)
@timoteo

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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Have you considered requesting a consult at Mayo Clinic?

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sherry26 | @sherry26 | Nov 25, 2022

All the women on maternal side have acute porphyria my one else out there experiencing aic?

REPLY
1 reply
Moderator
Colleen Young, Connect Director | @colleenyoung | Nov 26, 2022
In reply to @sherry26 "All the women on maternal side have acute porphyria my one else out there experiencing aic?" + (show)
@sherry26

All the women on maternal side have acute porphyria my one else out there experiencing aic?

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Hi Sherry, I moved your post looking for other with acute pophyria to this existing discussion so you can connect with @timoteo @daisy249 @clive1395 and others:
- Who do I see for porphyria?: https://connect.mayoclinic.org/discussion/who-do-i-see-for-porphyria/

Sherry are you also experiencing porphyria?

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1 reply
daisy249 | @daisy249 | Nov 26, 2022
In reply to @colleenyoung "Hi Sherry, I moved your post looking for other with acute pophyria to this existing discussion..." + (show)
@colleenyoung

Hi Sherry, I moved your post looking for other with acute pophyria to this existing discussion so you can connect with @timoteo @daisy249 @clive1395 and others:
- Who do I see for porphyria?: https://connect.mayoclinic.org/discussion/who-do-i-see-for-porphyria/

Sherry are you also experiencing porphyria?

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Sherri, you can contact the American Porphyria Foundation for a free genetic test.

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albertaeinstein | @albertaeinstein | Nov 29, 2022

Low urine pH and porphyrins
Hello. I recently underwent a urine test for porphyrins (GI suspects porphyria). There was a note on the test result indicating that the sample of urine had a ph >5 and, since porphyrins are not stable at low pH levels, the results should be interpreted with caution. What does it mean if porphyrins are not stable? Does low urine pH reduce or increase porphyrins? Thank you.

REPLY
2 replies
Moderator
Colleen Young, Connect Director | @colleenyoung | Nov 30, 2022
In reply to @albertaeinstein "Low urine pH and porphyrins Hello. I recently underwent a urine test for porphyrins (GI suspects..." + (show)
@albertaeinstein

Low urine pH and porphyrins
Hello. I recently underwent a urine test for porphyrins (GI suspects porphyria). There was a note on the test result indicating that the sample of urine had a ph >5 and, since porphyrins are not stable at low pH levels, the results should be interpreted with caution. What does it mean if porphyrins are not stable? Does low urine pH reduce or increase porphyrins? Thank you.

Jump to this post

Hi @albertaeinstein, It sounds like you received the results of your porphyrin urine test before you've had a chance to meet with your doctor.

I moved your message to this existing discussion about porphyria:
- Who do I see for porphyria?: https://connect.mayoclinic.org/discussion/who-do-i-see-for-porphyria/

I did this so you can connect with others like @timoteo @clive1395 @daisy249 @donnasa @sherry26

Alberta, when do you see your doctor who can interpret the test and discuss the results with you?

REPLY
daisy249 | @daisy249 | Dec 1, 2022
In reply to @albertaeinstein "Low urine pH and porphyrins Hello. I recently underwent a urine test for porphyrins (GI suspects..." + (show)
@albertaeinstein

Low urine pH and porphyrins
Hello. I recently underwent a urine test for porphyrins (GI suspects porphyria). There was a note on the test result indicating that the sample of urine had a ph >5 and, since porphyrins are not stable at low pH levels, the results should be interpreted with caution. What does it mean if porphyrins are not stable? Does low urine pH reduce or increase porphyrins? Thank you.

Jump to this post

I can’t answer your specific question, I’m sorry. But if you look up American Porphyria Foundation ( I think that’s the name?), Desiree Lyons is head and founder, they can connect you with a free porphyria genetic test. They will send you the info and request form , which must be filled out by your physician.
They are a great information resource
I just submitted my test. Awaiting results.
Best of luck to you.

REPLY
daisy249 | @daisy249 | Dec 2, 2022
In reply to @timoteo "Hi, thanks for running this. I just found it. My brother had it for years, the..." + (show)
@timoteo

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.

Jump to this post

If you have symptoms, connect with the American Porphyria Foundation. They can send you info and a free genetic testing form, but it does need to be filled out by a physician. Since it’s free, I don’t see why any dr should deny submitting it. They have a fb group as well.

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