Kristin Smedley of Ivyland, PA has been named the Pennsylvania Ambassador for the Rare Action Network (RAN) of the National Organization of Rare Disorders (NORD). RAN State Ambassadors serve as official liaisons between NORD, their state networks, state agencies and officials working towards improving the quality of life of patients and their families.
Two of Smedley’s three children, her sons, Michael (17) and Mitchell (14), are blind due to a rare eye disease called CRB1-LCA. In 2011, Smedley co-founded the only patient organization in the world for this inherited retinal disease. The organization, the Curing Retinal Blindness Foundation (CRBF), is headquartered in Pennsylvania but funds worldwide research and recruits patients from around the globe. The CRBF also connects families to resources for raising blind children. Highlights from Smedley’s leadership of the CRBF include raising over 1.1 million dollars and submitting the first ever legislation in Braille in US history (H.Res 625). Smedley recently testified at an FDA Advisory Committee hearing for a gene therapy to treat rare eye disease (which achieved unanimous approval).
The CRBF is a 501(c)(3) organization dedicated to funding research to promote treatments and cures for CRB1 degenerative retinal disease and connecting patients to resources for living with blindness. The children in this foundation are blind or visually impaired due to mutations in the CRB1 gene causing a rare genetic disease, a degenerative retinal disease (Leber’s Congenital Amaurosis, Retinitis Pigmentosa, or cone-rod dystrophy) Some of the children have already lost almost 100% of their sight. Many of the children still have some useable vision, but it will deteriorate if nothing is done to stop the degeneration.
“NORD was instrumental in connecting me to stellar resources to launch the CRBF and make a worldwide impact in a very short time. Pennsylvania is a leader in the United States for advocacy and action for rare diseases. I am honored to serve as the Pennsylvania Ambassador for NORD’s Rare Action Network to further the excellent work for rare diseases in our great state.” Kristin Smedley
NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 260 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.
About Rare Action Network (RAN)
The Rare Action NetworkSM (RAN) extends NORD’s historic leadership in national advocacy to the state and local level. RAN connects individuals and organizations within states and provides the training and resources they need to become effective advocates for policies that support the rare disease community. Support is needed from all stakeholders to build a strong, sustainable and effective advocacy network on behalf of the rare disease community.