NIH Rare Disease Day: Hope Through Action
NIH Rare Disease Day: Hope Through Action
Each year since 2009, the National Institutes of Health (NIH) Clinical Center and National Center for Advancing Translational Sciences (NCATS) has hosted Rare Disease Day at NIH to participate in the global observance. This year, we attended the event and heard several inspiring presentations from a range of rare disease stakeholders. Dr. Christopher P. Austin, Director of NCATS, introduced the tone for the day with his statement “Hope is only maintained through action.”
As we listened to updates from stakeholders regarding their achievements and current initiatives, we found that the symposium was evidence that we all should continue being hopeful in research. It was clear that collaboration amongst stakeholders to raise awareness and drive attention to research is making hope possible. Here are some key messages from the event:
An Unprecedented Opportunity for Scientific Collaboration
Approximately 30 million Americans are currently living with a rare disease. There are more than 6,000 identified rare diseases, many others undiagnosed, and less than 500 of those diseases have any treatment. Dr. Petra Kaufmann, Director of the Office of Rare Disease Research, recalled a moment in the past year that inspired great excitement. After 10+ years of research, the FDA approved a treatment for a disease that causes muscle weakness. That led her to question how we can ensure that we are not only reaching a few diseases but the thousands of others that currently have no treatment. Her focus is that we have to work together – stakeholders need to share tools and best practices, integrate care and research, and utilize smart technology so that scientific findings can translate into health benefits.
Dr. Anthony S. Fauci, Director of the National Institute of Allergy & Infectious Diseases, echoed similar sentiments on the importance of collaborative research by connecting it to his study of infectious diseases. Infectious diseases, such as HIV/AIDS, always emerge as “rare.” However, scientific advancements since the early 1980s have transformed treatments for HIV/AIDS patients. Back then, available treatments could extend life as long as 15 months, but now there are 30+ drugs that can add many years of additional life expectancy. These advances have propelled this disease state from “rare” to “treatable” and given thousands of patients renewed hope.
Both NIH directors encouraged attendees to seize this unprecedented scientific opportunity for partnership and innovation.
The Face of Rare Diseases
One thing that really resonated throughout the day was the “Beyond the Diagnosis Art Exhibit.” This exhibit is a collection of intimate portraits of children with rare diseases – an effort led by the Rare Disease United Foundation. The Beyond the Diagnosis Art Exhibit’s aim is to put a face to every rare disease – particularly in children. For any direct stakeholder in rare disease research or patient care, it really leaves a powerful message that can’t be forgotten in our work – understanding the patient is critical. The hope visible in each portrait was a powerful reminder.
The Patient Perspective
The Children’s Inn at NIH gives families a home-like atmosphere to stay at while children participate in research studies. One patient who utilized The Children’s Inn shared his personal reflections of being a pediatric patient. He shared his top 10 list of things that got him through tough times – things like the support of family and friends, humor, kindness, self-reflection and attitude. It was a very impactful session and drove home the importance of considering the ways a patient is impacted so that we can really understand each patient’s journey. Understanding the day-to-day hardship that rare-disease patients deal with is imperative to clinical trial enrollment. This is especially important in studies with pediatric and caregiver components.
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.