How I'm Using My Journey With Behcet's to Shine a Light on Rare Disease

My husband and I are urban explorers. We go into abandoned buildings – the saggy, unloved ones – and shine light in the dark corners. Our cameras find beauty and order in the chaos. We share the results with others.

It’s profoundly satisfying.

Now let’s make a few substitutions, so that “rare disease” is the focus of my efforts instead. Research and writing becomes that shining light, and a computer – not a camera – helps to create and distribute the final results. Welcome to my world: what I do with photography on weekends is a natural extension of my health-related calling over the last 20 years.

So what do I do? It’s a mixed bag. I’m a medical information “concierge” and advocate for people with a rare disease (I have Behcet’s disease) and for health care providers who have no time to research the unusual. I dig up the evidence-based materials and specialists that people need to move forward with treatment. I’m also a medical/health writer who can translate impossible medicalese into plain English. None of these jobs, though, are full-time. Instead, I make my living as a pharmaceutical case manager. I cram these other tasks into my “free time.”

I never expected to be an advocate for anyone. Becoming a medical information search specialist and a patient advocate was the direct result of being very sick, and being very sick wasn’t part of my life plan after college.

I was 23 when I started having health issues no one would want. But try explaining that to the doctors who thought I was looking for attention. In their eyes, I was too focused on my health. “Find something else to do with your time,” they said. I wondered what these doctors would say if they had to walk in my shoes for just one day. If they could walk at all.

What did I face? Uveitis. Oral ulcers. Genital sores. Skin lesions. Rashes. Pain.

I lined up specialists, but none of my specialists talked to each other. The U.S. healthcare system didn’t help: whenever I switched jobs and got new health insurance, I was forced to leave the few doctors who were trying to make a difference in my care. I had to start from scratch again and again as more symptoms kicked in.

Headaches. Superficial thrombophlebitis. Cataracts. Tachycardia. Vitreous hemorrhage. Peripheral neuropathy. Pain.

Add new health problems every few months. Rinse and repeat.

One PCP finally suggested Behcet’s disease as a diagnosis, but immediately dismissed it. “You’re white,” she said, “and you’re not from the Middle East. It’s too rare.” I’d researched online for years and already felt Behcet’s was the best option, but this diagnosis of last resort was always out of reach. I was continually shuttled into other categories that didn’t fit, but made the doctors feel more comfortable. They could send me for tests, believe they’d helped me and move on to other patients who had problems they could actually solve. I was an incredible time sink for people who had no time to waste.

After 17 years of frustration, I finally met with a worldwide uveitis specialist who was also an immunologist. I handed him my long list of symptoms. By then, I knew enough to keep my mouth shut and let him reach his own conclusions. Invariably, doctors never wanted to hear the name of the zebra bearing down on them.

“I know what’s wrong with you,” he said. “You have Behcet’s disease.”

The relief I felt was immediate and overwhelming – but at the same time, I was now the one who had no time to waste. How many other people were jumping over the same diagnostic and treatment hurdles I’d been facing for years? What could I do to help?

I joined the American Behcet’s Disease Association and started to put my writing and medical search skills to work. I’d always wanted to read about Behcet’s patients’ experiences, but a book like that didn’t exist. It was the start of my single-minded focus. I spent a year compiling and editing interviews I’d done with other BD patients. The interviews were eye-opening, especially when patients described interactions they’d had with physicians prior to diagnosis. For example:

“A doctor told me I was creating this illness because motherhood was not a challenging enough job.”

“One neurologist wouldn’t see me without my husband. Upon hearing [that I had just moved], he told me that my whole problem was relocation adjustment. Without examining me, he gave my husband literature on free-floating anxiety and told him this was the problem.”

I self-published the result of my efforts as the book “You Are Not Alone: 15 People with Behcet’s.” I was amazed by the response. These patients’ experiences touched a vital nerve in the Behcet’s community and opened a dialogue that was long overdue.

My first Behcet’s book was eventually followed by two more. The most recent – “Behcet’s Disease: MyModernHealth FAQs” – won a 2015 National Health Information Merit Award for Patient Education. I researched and wrote each of my evidence-based books carefully, with Behcet’s medical experts reviewing them prior to publication. While I wasn’t qualified to give medical advice to patients, I was still able to translate dense research studies into language everyone could understand.

Each positive email or social media post I received from patients, physicians and support groups gave purpose to my work. And now? Behcet’s is no longer the bane of my existence – it’s become a lifelong commitment to service.

I went back to school in my late 50s to earn a Patient Advocacy certificate from UCLA. My goal was – and still is – to help as many Behcet’s patients as possible. No one else should have to struggle for 17 years, as I did, without a diagnosis and proper treatment.

But here’s the good news: the tide is turning for patient engagement in rare diseases. The best health care providers are starting to listen to their patients, to accept personal experiences as learning tools. They’re realizing some patients have a depth of knowledge about their own disease that many physicians can only dream of. Some pharmaceutical companies are even reaching out to their patients for guidance.

Is there a way that you can shine a light on your own rare disease experiences? Maybe through writing? Social media? Photography? Public speaking? By helping with rare disease legislation?

Whatever you can do, now is the time. Make the most of it.

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