Who do I see for porphyria?

@azsbb3420 If you were given a referral to Mayo yesterday, it can take a few days to process. If you haven’t heard anything by next week it’s not a bad idea to call Mayo’s appointment department to see the status of your request. Here is a link to Mayo’s page.
It will have the phone number for the Scottsdale Mayo Campus. http://mayocl.in/1mtmR63

I’m so sorry about the passing of your father from ALS. At 56 he was so tragically young. That’s such an unfair disease.

I hope you get the appointment soon so that you can get on with your life! Waiting is so anxiety producing, isn’t it?

Yes my PCP is the one who ordered the first 24hr urine test.
I saw her yesterday and was given a referral to Mayo Clinic here in Scottsdale, AZ. It states a Neurologist referral.

She also gave me a several orders to be done blood & urine. I was advised to wait on those until I spoke with the onsite Labcorp tech & Mayo Clinic when they called. Im in a rural community and the Labcop technician did not have the materials to do a repeat urine ALA. So, I am waiting.

It's hard to think I have a rare genetic desease. My father passed away in 1987 from ALS. He was 56. He was diagnosed at The University of Washington. He went very quickly, maybe six months from diagnosis. I was his only child.

I appriciate the link and any other info you send over.

Hello @azsbb3420, While you’re waiting for other members with Porphyria to reply, I just wanted to welcome you to Mayo Connect.

From what I’m understanding, you’ve already had a ALA 24 hour urine test with high levels of Aminolevulinic Acid found in the results. Were you seen at Mayo previously or are you waiting for a callback from a referral?
Was your first ALA collection ordered through your primary care physician?

You may have already read this article but there is some helpful information about porphyria from Mayo Clinic: https://www.mayoclinic.org/diseases-conditions/porphyria/symptoms-causes/syc-20356066

What type of symptoms were you having that led up to your diagnosis of Porphyria?

I'm newly diagnosed with acute Porphyria and am waiting for Mayo Clinic in AZ to contact me for an appointment. They are wanting to repeat the ALA 24hr urine because my results were so high at 288. I have to wait to see what testing and where to get it done. I was in extreme pain during the 1st testing as well. Has anyone had similar results ? TIA

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.

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 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!

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.
https://www.mayoclinic.org/diseases-conditions/porphyria/symptoms-causes/syc-20356066
https://www.healthline.com/health/porphyria
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?

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.

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.