The NORD Rare Disease Summit is something I look forward to each year. It is a time to share and discuss all that we each do in the rare disease community−whatever area we work in, be it drug development, clinical research, regulatory compliance, or patient advocacy. The Summit offers a unique opportunity to collaborate as a community, truly learn from one another, and most importantly return to our work with a renewed focus and passion for advancing treatments for patients with a rare disease. These connections help me to keep the perspective of patients and families front and center. They are the reason why I go to work each day.
This year’s Rare Disease Summit held in Washington D.C., Oct. 15-16, brought together almost 700 stakeholders including representatives from the FDA, NIH, orphan drug development industry, and most importantly patients, families, and patient advocacy groups.
I came away from the Summit this year with a clear vision of the impact patients and advocates are having in the new era of patient-focused innovation.
Among the most powerful presentations of the Rare Disease Summit was the keynote panel moderated by physician anesthesiologist and now NORD Education Advisory Committee advocate, Dr. Anita Gupta. Dr. Gupta reflected upon her journey as a rare disease survivor, “Nobody cares how much you know until they know how much you care.” The impressive group of patient advocate panelists moderated by Dr. Gupta spoke about the critical elements required to drive progress for the rare disease community. The common element in what each of them conveyed was the power of their “voice”. By focusing their efforts on education of rare diseases with determination these young leaders are helping to build a community that is influencing the industry and making impactful changes. Their reflections remind us of the importance of amplifying the patient voice and being a compassionate advocate.
Each year, the highlight for me at the Rare Disease Summit is the opportunity I have to connect with patients, their families, and patient advocates. For any direct stakeholder in rare disease research or patient care, it is so important to hear from and try to understand patients and the long road they have traveled to diagnosis and onward to treatment. It is also stunning to hear from caregivers and care partners. Their dedication to those they care for is astounding.
Dr. Gupta’s message was compelling, as a physician who was a patient at the face of a scary medical journey over her life, she indicated that “Investing in the human relationship with patients is so important. When doctors are empathetic, patient outcomes are better.” Dr. Gupta emphasized that doctors really need to take a step back and look at things with the eyes of the patient. Her message really resonated ─ each of us involved in advancing treatments and medical care in the rare disease space must think about the patient first. The impact at every touchpoint is a critical insight to really understanding the patient journey and engaging with them along the way. It is through education, awareness, and the tremendous work patient advocates do, that we can learn to understand the complexities of a rare disease. This understanding will allow us to effectively contribute and help advance new drug development for rare diseases.
At the Rare Disease Summit, I was also able to meet Ashanthi De Silva. Ashanthi was the first patient to successfully receive gene therapy at the National Institutes of Health (NIH). Ashanthi was only four years old at the time and affected by a recessive metabolic disorder, ADA deficiency, which made her immune system weak and vulnerable to nearly every virus. She lacked the ability to produce a key enzyme, which would ultimately lead to her death at a young age. She is now thriving and is deeply involved in educating the rare disease community in the work she does as the rare disease editor at The Mighty. Ashanthi noted, “It has been tremendous to see gene therapy come full circle in my lifetime…to see its ability to transform different disease communities, far beyond what we thought was initially possible almost three decades ago. Parents get to watch their kids play, or move in ways they never dreamed of, and listen to them laugh, and dream of a future for them. That impact is not lost on me.” She also reflected that “We must also recognize that because of treatments like gene therapy, patients are now living longer lives with conditions where we still don’t know the full progression. We have ushered in a new era, and therefore, the continuation of excellent care and creating a complex care management team is essential for these unique patients and families — not only for their continued health and well-being but for understanding the natural history of these previously life-limiting conditions.”
The importance of collaboration for industry and patient advocacy was apparent throughout the Rare Disease Summit. Nadia Bodkin, a trailblazer of rare advocacy, echoed this in a panel on “Patient Access, Recruitment & Retention,” Nadia noted, “Every patient community is different. Industry really needs to shadow patients to get that valuable perspective.”
In my role at UBC, I work with patients and caregivers to assess the feasibility of clinical protocols and better understand small patient populations. By being on the ground, I am able to help alleviate trial-related patient and caregiver burden by offering study participants the option of having site visits conducted at their home through our clinical trial nursing services; and by providing participant travel services to study visits using our concierge service. We work closely with patient advocates and cast a wide net utilizing social media to connect people who suffer from similar diseases and speed drug development by building awareness of clinical trials.