Who do I see for porphyria?

Hi @duaine29 If you haven’t been tested officially for porphyria, your primary care physician would be the first place to start. Porphyria generally is an inherited disorder where the blood is missing some components. So if you remember your mom having these attacks, you’re having then and now your daughter is starting, it would be important for all of you and any siblings or other children to have a genetic test run. From the articles I’ve posted below, once diagnosed there are medications which can be given to help offset the potential events, which sound really debilitating! I’m sorry you’ve had to go through this.

United Porphyrias Association has a good website for patients with porphyria. In the upper right hand side of their main page there’s a resource guide including how to find a specialist.
https://www.porphyria.org/porphyria
Another resource for you:
American Porphyria Foundation: https://porphyriafoundation.org/for-patients/about-porphyria/treatment-options/finding-a-doctor/

Have you had a referral to a hematologist?

I have all the reasons that my lifelong incidents and symptoms point to acute porphyria.

The incidents started when I was in my late 20's... My mother had the same symptoms and was never diagnosed.
About four times a year I'm stricken with cold sweat, stomach cramps, nausea and loose bowel movement, simultaneous. Immediately, after, laying on the cool floor helps me restore to some normalcy. Then I am as weak as a kitten. My strength is slowly restored after laying down and napping. With in hours I feel my normal self. The attacks come on suddenly, causing me some embarrasing time. as a precaution I keep plastic bags in my home bathrooms. I have dealt with this for 6 decades and now my daughter is experiencing the first of the symptoms, weakness with the need to lie down till it passes. Can a general Physician get the urine tests and readings that are necessary for diagnosis? Is there anyone who can share their experience. Because of the rareness of proyphyria, physicians have never paid attention except to once calling it a panic attack.

Hi @azsbb3420 Just checking in with you… Has there been any news regarding your referral Mayo Clinic in Arizona?

@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!