Written by BDSRA Foundation President & CEO Amy Fenton Parker
Thanks to a travel grant I received from the National Organization for Rare Diseases (NORD), I was able to attend their annual Breakthrough Summit for the first time. It was wonderful to meet new colleagues and reconnect with those I haven’t seen for a while.
Amid the government shutdown that has disrupted healthcare, slowed research, and strained complex systems, I traveled to the NORD Breakthrough Summit with many questions and hope for ideas and answers. Many speakers from the NIH and the FDA had to be replaced, but NORD and those from the agencies who could present virtually made it work.
The resounding theme was, “NOW is the time to act!” With so many processes, procedures, and people not working in the way we are accustomed, now is the time for the rare disease community to help design the path forward. We have an opportunity to shape what legislation looks like and raise our voices for expedited approvals in rare disease.
Working to get the Rare Pediatric Disease Priority Review Vouchers (RPD PRV) renewed, restoring Newborn Screening, and Accelerating Kids’ Access to Care, which has bipartisan support, are but a few of the things we can push forward for resolution. Senator Amy Klobuchar, co-chair of the Congressional Rare Disease Caucus, surprised attendees with updates on proposed legislation and happenings from the caucus.
Visiting the various booths, I was reminded of two organizations that offer free flights for rare disease patients who must travel to get expert care. I spoke with Jill L. Pollander, RN, MSN, Vice President of Patient Services, about other programs available to our Batten families and how they work. I joined gatherings hosted by Rare & Ready and the Rare Epilepsy Network to connect with colleagues and share best practices and ideas for collaboration.
The Summit was a great experience, and I hope that Heather Dainiak, Director of Family Support, will attend next year. To learn more about what was presented and activities you can join in the future, click here.
PHOTO: Batten dad, Gudmundur Gylfason, from Iceland, found me for an introduction after meeting his colleague at the NORD Summit. His daughter had CLN3, and he told me that Iceland averages one child diagnosed with Batten disease every ten years. He was excited to learn about the Batten Disease Global Research Initiative (BDGRI).
