The Importance of Seeing a PCP When You Have a Rare Disease

I met my new primary care physician (PCP) on a frigid winter morning. I sat in the waiting room clutching my partner’s hand, a file folder spread open on my lap like a security blanket. My history of toxic relationships with specialists had left me exhausted, terrified, traumatized.

I was courting a new PCP and coming in hot with a big ask upfront. I wanted her help in coordinating aspects of my rare disease. I asked her to learn about my disorder and to be able to advocate on my behalf if needed.

I lost sleep the night before, rehearsing conversations with my partner and anxiously running scenarios through my head. Would she believe my pain? Would I have to prove myself to her? Would she be a willing accountability partner in my care?

I have acute hepatic porphyria (AHP), a blood disorder whose symptoms span multiple specialties, from cardiology to gastroenterology. Before involving a PCP, my hematologist managed referrals for everything he couldn’t treat. It wasn’t working. I needed a generalist, a dedicated doctor who could provide referrals and regularly think outside the porphyria box.

Fortunately, I was anxious over nothing. The appointment went well and I left with a new physician advocate in my corner. Like many living rare, I’ve learned the hard way how to ask others for help, but I hadn’t extended this request to my physicians until recently. Managing specialists, referrals, appointments, and holistic care is a full-time job for anyone with a rare disease. Fortunately, when I asked my trusted doctor to play a bigger role, she lifted a burden from my shoulders.

How a PCP benefits my care

Last fall I wrote about how all my physicians and wellness providers came together like ingredients in a delicious soup. But it’s currently hot June, so I’m rewriting my doctor recipe for summer. Now it’s a smoothie!

I’ve found it critical to have a generalist for my doctor smoothie recipe. She gets less in the porphyria weeds and can provide a broader perspective for my symptoms, because they aren’t always porphyria-related problems.

I’m a high user of the medical system for a single disease, and the last thing I want to do is spend additional time in a doctor’s office for preventative care. With my PCP serving as referral coordinator, it’s easy to maintain a medical home outside of the hematologist’s office.

If my national porphyria expert is the almond milk, my PCP is the banana and my hematologist is the peanut butter. These are three essential ingredients in my favorite smoothie recipes and they work well together, but it’s still up to me to see that they are properly combined.

Communication between the three of them can be clunky. They work in different health systems and in different cities, an issue all too familiar for many with rare disease. To keep my PCP in the loop, I send her records of abnormal labs, hospitalizations, and any out-of-the-ordinary news from my hematologist’s office.

Using a chart to organize doctors

The day before I met my PCP, I drew up a family tree-style document for every doctor I currently saw and every doctor I needed to see. This chart was developed after consulting with people who’ve lived with AHP most of their lives, and after referring to countless medical studies. Because my PCP came highly recommended from a fellow spoonie, I was optimistic that she’d be willing to work with me. I even brought a printout and a pencil, hoping she’d help me fill in a couple of holes yet that day. She did.

My national expert and PCP live at the top of my chart because they consult with every other specialist. Below them, I’ve listed my hematologist, neurologist, pain specialist, gastroenterologist, therapist, allergist, and cardiologist. Making up the bottom row are wellness practitioners, including my chiropractor, physical therapist, massage therapist, and life coach.

I’ve made an interactive version of my doctor chart available online. It can be used for anyone whose complicated illness is difficult for a single specialist to manage.

This weekend, I have the honor of presenting on my doctor smoothie at the National Organization for Rare Disorder’s Living Rare, Living Stronger NORD Patient and Family Forum. I will be serving on a panel of fellow rare patients and caregivers, discussing how we share decision-making with our care teams.

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Note: 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. The opinions expressed in this column are not those of Porphyria News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to porphyria.