I look forward to the NORD Rare Summit each year. It is a time to reflect on the work all of us do in the rare disease community−whatever area we work in, be it drug development, clinical research, regulatory compliance or patient advocacy. It’s a wonderful 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 rare disease patients, knowing that the patient is central to all our work.
This year’s Summit held in Washington D.C., Oct. 16-17, brought together hundreds of stakeholders including representatives from the FDA, NIH, orphan drug development industry, and most importantly members of patient advocacy groups.
Among the most powerful presentations of the summit was one given by Mike Porath who founded The Mighty, a digital health community created to empower and connect people facing health challenges and disabilities. The Mighty provides an open forum for people of all backgrounds to share their experiences and learn from one another. By focusing on the people rather than their conditions, Mike has helped build a community that is impacting the industry and affecting changes. Mike reminded us of the importance of amplifying the patient voice and being an advocate.
In his presentation, Mike shared a story from The Mighty about woman named Jean who, as a child, was misdiagnosed with spastic paraplegia and cerebral palsy. It wasn’t until later in life that she visited a new specialist and learned that she actually had a rare disease called dopa-responsive dystonia (DRD). When treated for it, she no longer needed the wheel chair she had been confined to for so many years. One pill completely changed the way she lived and significantly improved her quality of life. Based on her story, many others have become aware of their misdiagnoses. When Jean shared her story on The Mighty, she received messages from many others who told her that they had the same condition and had also been misdiagnosed. These patients are their own advocates and they find strength and empowerment from others in similar situations.
An Unprecedented Opportunity to Advance Care & Treatment
The summit concluded with an evening reception to celebrate the recent opening of the Children’s National Rare Disease Institute (CNRDI). The center is the first to be focused exclusively on advancing the care and treatment of children with rare and genetic diseases. Approximately 30 million Americans are currently living with a rare disease. There are an estimated 7,000 known rare diseases, many others undiagnosed, and only approximately 500 of those diseases have any treatment. Dr. Marshall Summar, Director of CNRDI, emphasized that the Institute is unique as it brings together scientists and clinicians across disciplines to develop and test new treatment options for patients with rare diseases.
The Face of Rare Diseases
For me, a highlight of the Summit was connecting with patients and patient advocates. For any direct stakeholder in rare disease research or patient care, it really is important to not only understand the patient, and their journey to diagnosis and treatment, but also to take time to listen to the caregiver’s perspective. Unfortunately, for many patients, it takes years and years to find a diagnosis. For many there is no diagnosis. We have heard the saying in medicine, “When you hear hoof beats, think HORSE, not zebra.” To a clinician, this means to look for the obvious diagnosis, not the rare one. But sometimes what we encounter is a zebra, not a horse. In this community, the zebras – or the rare – are common, but their experiences are very unique. Every patient and patient advocate I met had an incredible story, and I am proud to be an advocate for the rare disease community.
UBC’s Patient and Physician Services team works with patients and caregivers to assess the feasibility of clinical protocols and better understand small patient populations. We are on the ground helping alleviate trial-related patient and caregiver burden by coordinating travel to study visits through our concierge service and providing home health study visits. By working with patient advocates and utilizing social media, we are able to connect people who suffer from similar diseases and speed drug development by building awareness of clinical trials.
To learn more about our big solutions for small patient populations click here, and contact us to find out how UBC can help you do more for your rare-disease patients.
Rare Revolution Editor