In 2007, Marc Yale visited his optometrist for a case of what he thought was conjunctivitis (pink eye). After running some tests, his doctor could not determine the cause of his symptoms. Within days, Marc broke out in blisters across his skin, mouth, nasal cavity, and throat. The blisters, especially those in his mouth and throat began causing other problems, including jaw clenching and difficulty swallowing. “In the beginning, I didn’t realize my eye symptoms and the blisters had any relation,” Marc recalls. “I visited the dentist who thought the jaw clenching was from impacted wisdom teeth. I went ahead and had those teeth removed, but then the hole wouldn’t heal and began to blister.”
After several months of pain and discomfort and multiple visits with specialists, Marc saw his General Physician, desperate for answers. “At this point, the blisters were so painful I couldn’t shower, I had lost 40 pounds from struggling to eat, and was losing vision in one of my eyes as it began to swell and close,” Marc shares.
Marc’s doctor referred him to a dermatologist who referenced a medical textbook, believing Marc may have an autoimmune condition he had never seen in real life. One biopsy later, the dermatologist’s suspicion was confirmed, and Marc was finally diagnosed with a chronic condition, Mucous Membrane Pemphigoid.
“Finally receiving a diagnosis was such a relief,” Marc remembers. “I’ve learned since then, that this process of delayed diagnosis is common with rare diseases. Most individuals with Pemphigoid see 5-10 doctors before learning what condition they have and their treatment options.”
Treatment for Pemphigoid: Pandora’s Box
Although Marc was excited to finally have answers for his painful symptoms, reviewing treatment options for this condition opened a “Pandora’s Box” of new challenges. The mainstay therapy for Pemphigoid is corticosteroids given in very high dosages, which can cause many side effects. Other popular treatments include immunosuppressant medications, which can help suppress the autoimmune condition, but come at the risk of making patients vulnerable to secondary infections. Marc’s doctors recommended he begin treatment using a “stairstep approach”; trying the drugs that work the fastest in hopes that they would be effective. In Marc’s case this meant beginning a combination of corticosteroids combined with the immunosuppressant medication.
Although these treatment options may be the fastest, they still take 6-8 weeks to work. “While I waited to see if this treatment plan would be effective, my condition began to progress,” Marc notes. “My blisters caused constant bleeding, making tasks like sleeping and getting dressed challenging. The blisters in my mouth and throat felt like I was swallowing razor blades all day long. Eventually, my drooping eye fused close and I lost my vision permanently. I couldn’t see, so I couldn’t work or drive.”
Finding a Clinical Trial
During this time, Marc began to research if there was anything new available for patients beyond his current treatment plan. While there were very few clinical trials being held for Pemphigoid 15 years ago, there was one drug trial Marc found in France. “I knew getting into a trial was my best chance of remission and figured I would be a great candidate. My wife and I were ready to move to France for this opportunity,” Marc shares.
Unfortunately, Marc was not eligible for the trial and had to continue with standard care until another option was found. Eventually, when his doctors had exhausted their resources, Marc was sent to see eye and dermatologist specialists in Boston, who suggested he go on therapy for a trial happening for an off-label drug, not yet approved by the FDA. Marc was able to find a doctor who would prescribe this drug to him at home and began the new therapy. In the meantime, he continued his research online to find a community of other people experiencing this disease.
Barriers to Accessing Clinical Trials
In Marc’s case, as with many other patients, one major barrier for treatment and clinical trial access is a delay in diagnosis. “Our healthcare system is set up in a way that makes it difficult for patients to access the specialists who can diagnosis them with these conditions. Additionally, this is not a common condition, so many doctors have never seen it and can’t readily diagnose it,” Marc notes.
Another barrier for the Pemphigus and Pemphigoid community is the lack of standardized guidelines regarding treatment for this disease in the US. Treatment is up to the individual doctor and can vary greatly. Marc advocates for consensus guidelines for all patients and doctors to follow. Patients also must consider the financial burden of treatment, as the price for these medications is astronomically high.
“Anyone with a rare or debilitating disease will feel a loss of control in their life. Treatment should be made simpler and more available for patients,” Marc explains.
Patient Advocacy with the International Pemphigus and Pemphigoid Foundation
After looking around online, Marc found the International Pemphigus and Pemphigoid Foundation (IPPF), a site dedicated to spreading awareness and sharing resources for patients. After reaching out, the organization asked Marc to join and offered volunteer and advocacy work. Marc took on an outreach project to find doctors who specialized in these conditions across the country, as the site currently only had 30 doctors listed. Marc also helped form a peer health coach program, where patients were available to help other patients with managing the disease. These peer health coaches could help navigate newly diagnosed individuals through challenges, such as finding the right doctors, choosing a treatment, possible symptoms, and how to get involved in clinical research.
“I was happy to volunteer at IPPF because I found it rewarding to help others so they wouldn’t have to go through the diagnosis and treatment process alone like I did. I found mentoring very cathartic and used it as a coping mechanism to manage my own disease. During this time, I became passionate about advocating for the Pemphigus and Pemphigoid community,” Marc shares.
Although Marc was working part time as a volunteer at IPPF to start, after two years his condition went into remission and he was able to dedicate his time fully as a coach, and later as the Executive Director of IPPF from 2016-2020. Marc spent his time as a director building educational resources for medical professionals, students, and policymakers in Washington, DC. After he experienced a flare up, Marc made the decision to step down from his role and work on a volunteer-basis again, this time focusing on advocacy for the foundation.
Marc remains a coach in the peer health coach program today, staying in contact with others he has coached or met through his advocacy work. “It’s the best and worst part of my job. I love having the opportunity to build those relationships and help others, but it’s hard because I know what these people are going through. This is a truly devastating disease,” Marc reflects.
Marc’s advocacy has not only impacted the lives of others in his community but also his own. “Even with a support system, only someone who has your disease really knows what you’re going through which is why patient networks are so important.”
“I’m a serial advocate,” Marc jokes, “I can’t stop advocating because it’s part of who I am; it’s what I’m passionate about. The more people know about this disease, the more resources will become available.”
Today, with the help of Marc and many other volunteers, IPPF has increased their list of specialty doctors from 30 to 400, opened sister organizations internationally, and increased awareness and funding for the disease. Currently, there are 10 Pemphigus clinical trials running and 4 for Pemphigoid, a major jump from the single trial Marc found available decades ago.
Marc’s advice to patient advocates just starting out is to “Never take no for an answer. Be committed, persistent, and keep trying. Whether you’re a small organization, a newly diagnosed patient, or an advocate, you’re never alone. There are so many others out there wanting to make a change or difference just like you.”
Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | firstname.lastname@example.org