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Celebrating Rare Disease Research Advocates: Strong Together

Research is making and continues to make a difference in the lives of individuals across the US and around the globe with rare diseases. Advocates are essential in amplifying that impact, as the featured guests discussed at a reception hosted by Research!America in partnership with the EveryLife Foundation for Rare Diseases and Horizon Therapeutics. The event, “Celebrating Rare Disease Research Advocates: Strong Together”, held February 26, 2020, at the W Hotel in Washington, D.C., featured a panel of powerful advocates who shared what led them to work toward a better future for individuals confronting rare diseases.  

Research!America Vice President of Policy and Advocacy, Ellie Dehoney, moderated a brief, interactive conversation about rare disease R&D, caregiving, and advocacy. She talked about meeting with two individuals, both parents of children with rare diseases, who so compellingly articulated the human toll of those diseases that Ellie became both a professional and personal advocate for their causes.

Supra Verma, MD, medical director overseeing and assisting with drug development programs in rheumatology and rare disease for Horizon Therapeutics, discussed the toll of rare diseases and the unmet need for rare disease treatments that drives Horizon’s efforts and helped give shape to the multi-faceted challenges presented by rare diseases, saying, “Rare disease patients are global, but specialists are not. There are fewer of them and of the centers of excellence for treatment and research.” He emphasized that patients and patient advocacy groups have contributed tremendous knowledge to researchers as well as assisting with patient recruitment for clinical trials. The patient-industry relationship is essential to finding new treatments, he explained. “We use patient perspective, we use these stories, and we need to know about your challenges when going through the drug process. This is the reason why we come to these groups, we want to hear your voice.”

C. Grace Whiting, JD, President and CEO of the National Alliance for Caregiving, discussed her passion for ensuring caregivers receive the support they need and how her commitment to this cause evolved. One anecdote she shared: While working for an association focused on home health issues, Grace was given the opportunity to visit the White House. She was talking to others at the event about the “surreal” experience of being in the White House when the caregiver of a seriously ill spouse told her that all she could think about was her husband and how he was doing without her. Grace then remarked “Caregivers would move heaven and hell to care for the person they love. Who is caring for them?” She emphasized, “I would not undervalue the contributions that you make. All the work you do behind the scenes is the backbone of our health system.”

Laura Lewandowski, MD, MSc, a Shulman Scholar in Translational Research studying pediatric lupus at NIAMS within the National Institutes of Health also addressed the group. As a trained pediatric rheumatologist, she described her experience treating a young patient with lupus. She recounted there was “something about being there in that moment with that patient, that family grappling with this.” She then turned to the question, “why?  Lupus is really severe in kids and kids of color — why?” Dr. Lewandowski explained that researchers and scientists do work, study, plan, and ask questions and test. “If the answer is yes, great. If the answer is no, you have limited time and limited money. But what’s really interesting is the ‘no, but…’ Good science takes time. Although the yes’s are really gratifying, the aha moments come from the “no, but”. And that’s why funding is so important.”

In closing out the evening, Dehoney turned the microphone over to the audience for attendees to share their reasons for advocacy. One parent, mother to a daughter with spinal muscular atrophy, spoke to the frustration of misdiagnosis and no course for treatment, explaining, “Out of anger I started raising money for research. I didn’t want anyone else to spend a year not knowing what’s wrong.” Panelists clarified that it is this anger and pursuance of justice that helps advocates engage. The mic was then handed to Karen Smithwell, who discussed her search for a diagnosis for her son. After many attempts to secure a diagnosis, she found a physician just five and a half miles away who recognized the symptoms and was able to identify her son’s illness. She remarked, “I can’t help but think about all the people who are just five miles away from their solution.”

As Dr. Lewandowski pointed out, good science takes time and it is essential that researchers continue to ask questions, seeking the ‘no buts’ and the ‘aha moments’, and that advocates continue to push for solutions. Research can turn ‘no’s’ into ‘yeses,’ and ‘yeses’ into treatment.

To see photos from the event, click here.