Making Every Doctor Visit Count When You Have Porphyria

When you have a rare disorder such as porphyria, it can be challenging to effectively communicate your concerns to physicians. Perhaps you feel your symptoms are overwhelming and need more information but aren’t sure how to ask. Here are some ways to make the most of your doctor visit.

Find a specialist doctor

It’s crucial that you have a healthcare team with expertise in porphyria, a disease that affects from 1 in 500 to 1 in 50,000 people globally. If you’re in need of a specialist, you can seek guidance at your local clinic, or you can check out these resources for help:

• American Porphyria Foundation
• Canadian Porphyria Foundation
• Canadian Association for Porphyria
• British Porphyria Association
• European Porphyria Network
• The Porphyrias Consortium
• Hepatic Porphyria Resources & Support (UCSF Health)

Be honest and upfront with your doctor

After you’ve found a doctor with porphyria expertise, be candid about your condition, and don’t hesitate to share details. Because you have a rare disease, you will likely require longer and more frequent doctor visits. Still, make sure your interaction is concise and to the point.

To a great degree, effective treatment hinges on how well you communicate with your doctor.

Ask questions about your treatment

Porphyria treatment depends on symptom severity and disease type. Doctors usually treat acute porphyrias with heme infusions. In severe cases, patients may require a liver transplant. Find out the severity of your case.

If you have cutaneous porphyria, for example, you’ll be advised to avoid sunlight as much as possible. Doctors may treat you by taking blood draws to reduce your iron levels. Ask what levels are acceptable.

Patients with acute hepatic porphyria may be prescribed Givlaari (givosiran). If you are prescribed the medication, be sure to discuss the side effects, such as nausea, with your doctor.

Panhematin (hemin for injection) is a medication approved to treat acute intermittent porphyria related to the menstrual cycle in women when carbohydrate therapy is ineffective. Here, too, ask about side effects, which can include headache and fever. Because the therapy can cause mild blood thinning, it’s important to disclose any other blood-thinning medications you’re on.

Do the prep work

Make sure to prepare for the visit in advance, so that you don’t miss key points during the discussion. You may want to list them beforehand and bring the list with you. Determine the goals you have for the appointment. If you need to better understand test results, for example, don’t hesitate to ask.

Keep good medical records

Maintain and take along your treatment plan with you. This should offer a summary of your treatments, current medications, and any test results. Such records are particularly handy during travel, in case you need medical care while away from home.

Consider recording the visit

If you want to ensure that you don’t miss or forget any important information, ask permission to record the visit using your cell phone or another recorder. That way, you can also maintain eye contact with the doctor instead of trying to write everything down.

Get a clinical summary

You may want to ask for a printed clinical summary of the doctor’s report. Such summaries are often part of the office’s electronic medical record system.

Ensure your specialists are in the loop

If you have multiple specialists — and you likely will — make sure team members are all interacting with each other and are on the same page.

Last updated: Aug. 25, 2020

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Porphyria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.