Three Takeaways from NIH’s Rare Disease Day

Three Takeaways from NIH’s Rare Disease Day

I had the opportunity to participate in Rare Disease Day 2016 while attending the National Institutes of Health (NIH) earlier this month in Bethesda, Maryland. I heard talks and saw presentations from the NIH Director, medical researchers, leading biomedical scientists, policymakers, patient advocates, and caregivers. The event gave me an even greater appreciation for how critical rare disease drug development is and the power of listening to patients to understand their experiences. Here are three key things that I took away from NIH:

The patient voice is a powerful driver in rare-disease research.
To really understand rare diseases, we must listen to the stories, the challenges, and the complexities surrounding rare-disease patients. One of the most moving parts of this event was the story of a woman suffering from sickle cell disease. She described her condition as “an octopus with many tentacles:” You see, she doesn’t just deal with sickle cell disease; she must also combat various related complications. Each month, she visits an orthopedic specialist, a wound care specialist, a pain management specialist, and numerous other healthcare providers. She described her situation like this: “It’s like the walking dead, living life through the motions. But my body is failing me.” Understanding the day-to-day hardships that rare-disease patients deal with is imperative to clinical trial enrollment.

We must truly understand the role of the caregiver.
Sometimes we forget that caregivers play critical roles and have unique perspectives on the diseases that their loved ones are battling. At NIH, Lori Wiener, Ph.D., from the National Cancer Institute, addressed the significant stress that caregivers face: “From the time a serious illness is suspected, there is disruption in daily routines and family life, changing caregiver or spousal roles, threats to employment and financial strain, and emotional challenges — all while continuing to care for non-ill family members and managing other responsibilities.” We need to understand the perspective of both the patient and the caregiver to effectively research and treat rare diseases. Whatever we can do to support these caregivers — helping them cope, coordinating transportation to study sites, or just saying “thanks”— can go a long way.

Rare Diseases are a community.
Mike Porath founded The Mighty, a website about rare diseases and disabilities. By focusing on the people rather than their conditions, he has helped build rare-disease communities, connecting people all over the world. One of the website’s stories highlights a woman named Jean, who was misdiagnosed with spastic diplopia as a child. 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. She was personally contacted by 20 people 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.

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 to 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.