Rare Disease Day at the NIH

The final day of Rare Disease Week took place at the NIH Clinical Center last Thursday. Admission to the NIH was free, and participants had the chance to tour the NIH facility, connect with others in the rare community, and view presentations, panels, and poster exhibits from different patient organizations, researchers, lawmakers, and leaders in the rare disease movement.

The day began with a welcome from Christopher P. Austin, M.D., director of the National Center for Advancing Translational Sciences at the NIH, who was followed by NIH director Francis S. Collins. Collins shared the hopeful energy surrounding new rare disease advances.

As he put it, “Rare disease is on the list of some of the hottest science that is happening. Rare disease research is cool.”

Congressional allies from both sides of the political aisle, Representative Leonard Lance and Senator Amy Klobuchar, shared comments emphasizing the tangible effects that happen because rare disease advocates put pressure on their lawmakers to make a difference.

After remarks from James Gilman, M.D., CEO of NIH Clinical Center, who shared an FDA update from Katherine Needleman, Ph.D, who explained the current status of FDA programs focused on rare disease, the first panel began.

The panel focused on the first human trials for gene editing in MPS I (Hurler syndrome) patients, and collaboration that made it possible. Erica Thiel, a patient who was not diagnosed until age 21, shared a moving testimony of her experience. She shared how grateful she is to have received treatment, as well as the symptoms that she still struggles with, the work that still needs to be done.

“Most people see their families more than they see their doctors” said MPS Patient, Thiel.

The second panel covered the importance of collaboration between patient groups and researchers. Margie Frazier from Batten Disease Support and Research Association emphasized creating a community of radical acceptance in the rare disease movement. Marshall Summar, M.D., from NORD, discussed the vital role the digital era has played in advancing rare disease research, and the importance of communication between patients and doctors.

“Go to patients and they say ‘Here’s what I ACTUALLY need you to fix.” ‘It’s not a walk test or a stair climb.”‘

The next panel focused on Gene Therapy, and covered a range of varying perspectives. Panelists, such as Kristen Smedley, President of Curing Retinal Blindness Foundation, brought up intriguing questions and concerns. Smedley is a mother of children with retinal blindness, and she talked about while she is excited emerging field of gene therapy, she worries that the rare disease community will lose sight of their current needs because they are waiting for tomorrow’s treatment.

In the final panel, young leaders of the rare disease movement talked about the next generation of rare patient advocates. The panel included Shira Strongin, founder of Sick Chicks, Taylor Kane, founder of Remember the Girls, Maddie Shaw of Maddie’s Herd, and Tej Neaz Powell, patient representative from The Children’s Inn at NIH. The group of young advocates impressed the crowd with their eloquence and with the power they were claiming. Although each panelist struggled with different diseases, they shared a common message: you are never too young to take your health into your own hands.

Robert M. Long from Uplifting Athletes presented next, explaining the role of athletes in the rare community, and the day wrapped up with an update on NCATS ORDR from Anne Pariser, M.D.

Throughout the day, many fascinating booths and exhibits shared insight into different aspects of rare disease. The exhibits promoted support networks, wellness initiatives, and research updates. Patients, advocates, and researchers were given a chance to connect, share, and work towards a new phase of rare disease collaboration.


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