Many years ago, I became one of the first people to be diagnosed with an ultra-rare vasculitis syndrome, a dangerous inflammation of the small blood vessels. My disease is so rare that I had a much better chance of winning the lottery, but instead, I ended up sick. The story of how I was finally diagnosed is as unlikely as my disease, but it also speaks to a few broader truths about the importance of understanding the patient journey.

Soothing the symptoms

When I was in my 30s, I woke up one morning with a giant red welt on my thigh. I assumed it was from some unknown irritant, or perhaps my husband had kicked me in his sleep. But two days later, my coworker looked at me with alarm, interrupting our meeting to tell me, “Carolyn, something’s going on with your face!” In the restroom, I found that my cheek and lower lip had ballooned to elephantine proportions. I went immediately to the emergency room, where it was confirmed that I had angioedema—but no one could offer an explanation as to why.

For the next six months, I experienced horrific, painful welts all over my body, which would come and go at random. As I became more and more convinced that something was seriously wrong with me, I saw doctor after doctor. While all of them treated my symptoms, prescribing soothing creams for the welts and numbing drugs for the pain, none of them tried to determine the underlying cause.

Although several physicians suggested my welts were likely due to a household allergy, they also declined to give me an allergy panel. One doctor bluntly announced that they’d never be able to figure it out, so the best I could hope for was learning to cope with the symptoms. It wasn’t going to kill me, after all.

Advocating for testing

Ultimately, I decided to do my own investigative work. At the time, I was an IT director at a high-tech company, so I was familiar with deep internet research. I am also the daughter of a nurse practitioner, so I understood some medical terminology, and I used a medical dictionary for the terms I didn’t understand.

Eventually, I found a woman in Australia with the exact same symptoms. After friending her on Facebook, I learned how she was diagnosed. Finally, I knew the name of the lab test that would either confirm—or deny—my hypothesis. However, when I asked various doctors to order this test, it was clear they thought I was unhinged. Each told me the test wasn’t clinically necessary and they wouldn’t order it, even though I was willing to pay out of pocket.

Fortunately for me, one wonderful rheumatologist suggested reaching out to the head of the allergy and immunology department at a local university hospital for more input. Instead of calling, I decided to just show up and wait a few hours until this doctor could see me. We met and discussed my symptoms, and I told him what I was looking for: access to a specific lab test that could potentially give me a diagnosis.

Essentially, I sold him on the idea of advocating for me. I promised that if my results were positive, I'd serve as a case study for his class, as it may be the only time his students would come face-to-face with this disease. I even volunteered to be named and photographed as the subject of a clinical research paper. Whatever he wanted, I would do—but first, I needed that test.  

Receiving a diagnosis

And that is the long story of how I became one of the first people in the United States diagnosed with Hypocomplementemic Urticarial Vasculitis Syndrome (HUVS) with leukocytoclastic vasculitis (LCV). It turns out that I was having an autoimmune reaction to my own blood plasma; the vasculitis was causing the lining of my blood vessels to deteriorate, and plasma was leaking out into the surrounding tissue.

For the next year, I was on a powerful chemotherapy cocktail to stop the vascular deterioration, which consisted of the primary drug plus 12 to 15 others that counteracted its side effects. I ended up footing the bill for the initial treatment until I could convince my insurance company that I needed it to recover. While I was eventually reimbursed for treatment, I was never reimbursed for the initial testing or early specialist visits.

My rheumatologist retested me every year, using various tests that were thankfully covered by my insurance. After seven years, I was considered cured—or, more correctly, managed—and it has never returned.

Eliminating access barriers

When I look back on this experience, it’s clear that it kickstarted my passion for patient access. For the past eight years, I’ve been a solution consultant for MMIT, a company that provides patient access data and analytics to pharmaceutical and healthcare companies. Every day, I help manufacturers understand what patients go through on their long slog through the healthcare system.

In so many instances like mine, patients have to navigate a convoluted system of specialists, testing restrictions, and reimbursement hassles before they’re even diagnosed, much less treated. I’m proud of how I advocated for myself back then, but I also know that many patients are not as lucky or well-equipped as I was. Without my determination and makeshift clinical background, I’d still be swollen and suffering 25 years later, and likely on a host of ineffective drugs.

As a market access specialist, that’s why I continue to advocate for manufacturers to understand the plight of patients. When patients are at their weakest and most vulnerable, they shouldn’t have to fight for a diagnosis or help coordinate their own care. They shouldn’t have to file multiple appeals to a payer or manufacturer to help pay for their treatment.

Before launching a therapy, manufacturers should map the twists and turns of the patient journey to become deeply familiar with the existing access barriers. Which regions lack access to the right specialists? What are the referral patterns for this condition? Which biomarker tests aren’t being covered? How long must patients experience symptoms before they’re diagnosed? How many patients switch therapies due to bad side effects? What are patients paying out of pocket?

Integrated claims, lab, and market access data can reveal the answers and guide a manufacturers’ commercial strategy. By keeping the patient experience front and center, manufacturers can create targeted interventions to eliminate many of these barriers.

During my own treatment journey, it occurred to me that they call it the practice of medicine for a reason: even doctors have to continually update their knowledge to meet the needs of new patients. Pharma companies must commit to understanding the patient journey to improve access for all who need their therapies. 

Learn how MMIT’s integrated claims, lab and market access data can help pharma manufacturers smooth patient access to therapies.

About the Author

Carolyn Zele Solution Consultant Advisor, MMIT As a solution consultant at MMIT, Carolyn Zele helps pharmaceutical manufacturers simplify market access and prepare for launch success. Prior to joining MMIT, Carolyn spent numerous years in the payer/PBM space managing formulary teams and technology across both regulated and non-regulated lines of business. Carolyn’s patient access expertise has appeared in STAT, Drug Channels, BioPharma Dive, Fierce Pharma, and Pharmaceutical Executive.