Here’s what I’ve learned from seven years with rare disease – Iowa Capital Dispatch

In hindsight, I had warning signs. Six months in and out of hospitals around the Midwest could have clued me in. But I’ve never been the kind of person who expects the worst. 

“You’ll only hear from me if the test comes back positive,” the Mayo Clinic resident had said. After a week in the hospital, my gastrointestinal tract remained paralyzed, and I hadn’t yet slept. At this point, I wasn’t sure which was worse: a diagnosis of a complex, rare disease, or continuing my search for answers.

“Don’t expect to hear from us,” he assured me again. “Porphyria is so rare.” 

A week later, when I received a diagnosis of acute intermittent porphyria (AIP), I was stunned. 

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Leap day is also Rare Disease Day, the rarest day of the year. However, rare diseases are not rare. One in 10 people in the U.S. has one. 

What follows are some of the most important lessons I’ve learned living with AIP. While my experience is personal, it’s not unique to the experience of living with a rare disorder, invisible illness or chronic disease.

Doctors are ‘practicing’ medicine

My introduction to living rare was seven years ago, when I learned I had AIP after 19 years of misdiagnoses and illness. I hadn’t yet realized that even a health care provider considered an expert in porphyria, wasn’t specialized in my body or specific disease presentation. 

My diagnosis came with a list of expectations: I shouldn’t have another attack, I shouldn’t need more than a single dose of Panhematin, and I should be able to avoid variables that activate disease, in order to live a “normal” life. 

My Mayo Clinic doctors based their assurances on case studies and their understanding of metabolic disorders. I was the only person they’d ever seen who’d tested positive for the disease. With more than 7,000 rare diseases, no one provider can be expected to know them all. Doctors provide guidance based on available information and their best guess.

Medical trauma is the norm

I believed doctors when they told me my pain was due to toxic stress, and that my organs were paralyzed because of the intravenous pain medication. During my long road to diagnosis, health care providers stopped taking me seriously. It also became increasingly complicated for my friends to be supportive and for my family to understand. 

I looked like I was making it all up, and I became less convinced anything was biologically wrong. I started doubting my own symptoms. Most of us weren’t raised to question doctors. I certainly wasn’t confident enough to advocate for myself.

Undiagnosed medical post-traumatic stress disorder runs rampant in our community, and often providers won’t make mental health referrals unless we explicitly ask for help. Even though I’ve yet to meet someone with a rare or chronic disease who hasn’t experienced medical trauma, I know plenty who minimize their experiences.

No one will tell you to grieve

There’s a collective grief in the rare disease community over lost time, missed vacations, and life milestones that were somehow limited or neglected because of our bodies’ needs. Worse still, we watch more able-bodied peers experience them all. There’s no fast and easy way to grieve. The mental processing may seem crushing, but it’s necessary. 

I finally realized that when hard feelings rolled in, it hurt more to hold them in than it did to let myself feel. I can’t describe how difficult that was at first. But all of my feelings were valid. Eventually I learned to meditate and found a great therapist. Things didn’t change, but they were easier to accept.

Personal provider relationships are key

When there aren’t enough patients to know what medications are truly safe or what alternative treatments could be beneficial for symptoms, it’s crucial to try different things. Some will work better than others, and this experimentation can be scary.

Finding doctors with the time to get curious is difficult. The U.S. health care delivery system isn’t set up for this sort of doctor/patient collaboration. Yet, I have the direct emails and cellphone numbers of several providers.

When living with a rare disease, it’s crucial to have a point-person doctor who manages our local care and will stand up for us in sticky situations, like being questioned about our diagnosis when we’re in crisis at the emergency room. Mine is my hematologist, and we have a trusting relationship that’s taken years to build.

I average five doctor appointments a week, primarily with providers I’ve found through referrals from fellow rare disease friends. I need to be able to ask my providers questions, and have candid conversations about what’s been helpful for other AIP patients around the world. We can learn more from others in our rare disease community than any published research.

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This Rare Disease Day is more than an opportunity to raise awareness. It’s a chance to come together as a community to see how much we share in the rare disease experience. It feels lonely when you’re 1 in a million, but through connection and advocacy, we can learn from each other.