Rare Disease Legislative Advocates (a program by the EveryLife Foundation for Rare Diseases) hosted Rare Disease Week on Capitol Hill from February 25th to February 28th, 2024. Rare disease week is a week-long event that brings together rare disease advocates from across the country to make their voices heard by their Members of Congress. A rare disease is defined as a disease that affects less than 200,000 people in the United States. Though individually rare, rare diseases are collectively common, affecting 30 million Americans.
The Webb research group, led by Bryn D. Webb, MD, FACMG, associate professor, Department of Pediatrics, traveled to Washington D.C. Webb has identified eight novel genetic disorders to date and has used mouse and stem cell models in her investigations.
Attending alongside Dr. Webb were Norman Liu and Sophia Salemi, two recent graduates of UW-Madison. Liu plans to pursue a career as a physician-scientist in clinical genetics and Salemi is an aspiring genetic counselor and one of three Young Adult Rare Representatives for Wisconsin. Both received travel scholarships to attend Rare Disease Week from EveryLife Foundation for Rare Diseases. The group held meetings with the offices of Representatives Pocan (WI-02) and Steil (WI-01) and Senators Baldwin and Johnson about a number of legislative issues surrounding rare diseases. Through the efforts of the advocates, Representative Steil joined the rare disease congressional caucus.
Liu advocated for the reauthorization of the Pediatric Priority Review Voucher. This legislation expedites the review process for new drug applications or biological license applications with the FDA, facilitating faster access to potentially life-saving treatments for children with rare disease. Since its inception in 2006, the Pediatric Priority Review Voucher program has awarded 46 vouchers for 35 different rare pediatric diseases, representing tangible progress in the fight against these often devastating conditions.
Salemi advocated for the formation of an Interagency Coordinating Committee for Rare Diseases. By sharing her own journey with a rare metabolic disease and experiences as a rare disease research specialist, Salemi described how an Interagency Coordinating Committee for Rare Diseases would serve as a vital resource. Such a committee would bring together stakeholders from various federal agencies to address the unique needs of individuals living with rare diseases, including increasing access to specialized care, shortening diagnostic odysseys, increasing research funding, catalyzing the development of therapies and educational resources for families. This agency would consist of patients, caregivers, clinicians, non-clinician providers, researchers, economists, rare disease organizations, and federal agencies such as the NIH and FDA.
In reflecting on the week, Dr. Webb notes, "Advocacy is not just about bringing attention to the individual struggles of rare diseases; it is about driving systemic change. It is about influencing policies that can improve the lives of millions who are facing these challenges daily. By joining forces during events like Rare Disease Week, we can create a collective voice that resonates with policymakers, urging them to prioritize the needs of the rare disease community."
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