Who do I see for porphyria?

Hi I've been recently diagnosed but having issue getting in with a hematologist. I don't know what form of porphyria I have but my EPP blood test was high positive and so was my urine (uroporphyrin III). I'm having severe symptoms, especially in my nervous system. I can't find a doctor that knows what it is or that can help. Would appreciate any info/help/clinics that do telehealth, anything to point me in the right direction for help. The doctors closest to me don't have anything available for 8 months and I'm in constant pain daily.

Welcome to Mayo Connect, @brios Waiting 8 months for an opening with a hematologist is tragic when you’re having such severe symptoms from your porphyria. This has to be very frustrating and stressful for you.

It sounds like you’re in a limited area for care. If you’d like to request an appointment with Mayo Clinic, here is a link to take you to the home page where you can begin the process. A referral isn’t necessary but I’ve heard that it can help to expedite things.

Link to Mayo online request:
http://mayocl.in/1mtmR63

When you click on the site, just follow the prompts to initiate the request online.
Or if you prefer you can call the office most convenient for you.
Rochester, Minnesota 507-538-3270
Phoenix, Arizona 480-301-8484
Jacksonville Florida 904-953-0853

I’ve also posted a couple of information links for you.

There are several conversations in the forum with other members familiar with porphyria:

~~Who do I see for porphyria?
https://connect.mayoclinic.org/discussion/who-do-i-see-for-porphyria/

With members: @daisy249 @timoteo @clive1395 @sherry26

~~Treatment for mild porphyria
https://connect.mayoclinic.org/discussion/treatment-for-mild-porphyria/
With @verdawn, who was recently joined Connect.

@brios, you mentioned you were recently diagnosed. Was this through testing with your primary doctor? Is there no way to get a referral sooner to get some relief?

Thank you so much for the info. I was just diagnosed in July by my primary care provider. Originally went down the route of an autoimmune disease, like lupus, but that was negative and we finally found the answer with porphyria testing (which opened more questions). They have reached out to 6 hemotologists for a referral but as of yet we haven't had much luck. I'll look into the appt with the Mayo clinic, I wasn't aware that was an option! Thank you!

Good morning, @brios. It’s just crazy that your doctor has reached out to 6 hematologist and you’re left foundering? There should at least be someone able to get you in for an evaluation!

Yes, by all means initiate an appointment with Mayo Clinic. Either you or your PCP can do this. Make sure you mention that you’re not able to receive local care for this as it appears out of the ability of local hematologist. (Not that it is, but you’re not getting any care from them and you need help)

Other options: If you have a large, teaching hospital such as a university hospital you may have better luck than a smaller, local clinic at this point.

Also, I’m not sure where you’re located, but Mayo Clinic partners with selected medical facilities across the US who meet their qualifications for patient care.
Here is link to the map of these clinics.
https://www.mayoclinic.org/about-mayo-clinic/care-network/network-members

I truly hope you can find some assistance soon. Have you requested being put on a cancelation list for any of these hematologists?

Thank you for your support. My primary care is working on reaching out to more clinics (and cancelation lists) but seems everyone is booked numerous months out. I just wish I could speak with someone that knows this disease and could answer the many questions I have. I've read a lot about it but when it comes to what will help it seems I need to know which one of the 8 types I have and I don't know how to do that without a providers help.