I attended the National Organization for Rare Disorders Breakthrough Summit in Washington DC last week. The focus of this year’s Summit was “Equitable Access to Innovation.” It was fantastic to spend time learning from and connecting with people linked by a shared passion to make the world better for the millions of people living with rare diseases. When I think of all the brilliant sessions attended and incredible discussions had, and when I imagine my own experience multiplied by the hundreds of other attendees all having their epiphany moments, I feel very optimistic that the future will be re-imagined for those impacted by rare disease.
It was so special to see and spend time with many dear old friends, meet people in-person, people I have only gotten to know virtually over the years but never met, and finally, it was meaningful to connect with new people.
What an honor to be at the meeting representing Congenital Hyperinsulinism International. I was part of the CHI and Exeter team that created the poster Genetic Testing Access and Results for Patients with Congenital Hyperinsulinism as Conducted through the CHI and University of Exeter Partnership, which I shared in the NORD Summit Poster Hall. I was glad that there was great interest in the Open Hyperinsulinism Genes Project, the subject of our poster. Many people were excited to learn that our program enables both access to genetic testing, which greatly benefits the individual patients who participate, and inclusion in genetic research, with people from 63 countries and five continents participating.
I am also a member of the New Jersey Rare Disease Advisory Council (RDAC), and therefore was invited to attend a meeting the day before the Summit began. This meeting was for RDAC members from 29 states. There was an excellent exchange of ideas about what can be done on the state level to increase access to resources and care.
