Contributed by Anna Ellis
Every February 28, millions of people around the world participate in Rare Disease Day to raise awareness about the more than 10,000 identified rare diseases that affect an estimated 300 million people globally. A disease is considered “rare” when it affects fewer than 1 in 2,000 people. Although this adds up to millions of people globally, rare disease patients often find it hard to feel seen and heard in their diagnosis and treatment journeys.
Hear from a patient advocate in biotech about her experiences working in rare disease drug development, how she ensures patients remain at the forefront of conversation, and advice she has for others looking to raise awareness for rare diseases.
Anna Ellis, Associate Director of Patient Affairs & Advocacy, X4 Pharmaceuticals
Anna is a nationally recognized patient advocate regularly consulting with healthcare start-ups, life science companies, patient groups, and other organizations to incorporate patient values into healthcare design, technology, and policy reform. Shortly after being diagnosed with Systemic Juvenile Idiopathic Arthritis (SJIA) at age 11, Anna’s childhood was marked by barriers to obtaining effective treatments – the consequences of which ultimately shaped her access to educational and professional opportunities into adulthood. Today, Anna is the head of patient affairs and advocacy at X4 Pharmaceuticals where she works to ensure that the patient’s perspective is incorporated into decision-making across the full spectrum of drug development including coordinating educational webinars for members of the X4 team and the public.
Working in rare disease drug development has its challenges. What motivates you to keep moving forward?
At 11 years old, I was diagnosed with a rare autoinflammatory disorder. At the time, no approved therapies existed. This has thankfully changed since then but it took nearly 20 years to find the right combination of treatments to manage my condition and slow its progression rather than just treating symptoms. My personal experience motivates me to work towards possibly bringing new treatments to patients with limited options.
I have learned through conversations with patients, and my own experience, that obtaining a diagnosis is one of the biggest barriers that rare disease patients face. Many patients have been dismissed by healthcare providers for years before finding someone who seriously invests in their care. By the time they are diagnosed, they are physically and emotionally exhausted, and their trust in the medical system is fractured. Conjuring up hope for a treatment can feel impossible. These barriers continue to motivate me.
How do you ensure the voices of patients and families are incorporated across all stages of treatment development?
In my current role as the Associate Director of Patient Affairs and Advocacy at X4 Pharmaceuticals, I work to ensure that patient perspectives are incorporated into the decision-making process across the spectrum of drug development whenever possible. As an example, we regularly organize patient advisory boards to solicit feedback and generate insights into the patient experience. We take what we learn from these meetings and apply it to patient-focused programs, website content, educational materials, and clinical study design.
What advice do you have for others who are seeking to raise awareness and develop treatments for rare diseases?
Maintaining an open mind and understanding that the rare-disease patient experience is not a monolith is critical. Patient preferences for future treatment should be taken into consideration by whomever is developing the treatment. I believe that eliminating as many barriers to engagement as possible is equally as important – removing roadblocks helps ensure that diverse experiences are represented in educational materials, supporting content, and/or clinical study design(s).
