PDCD Provider Survey

The Hope for PDCD Foundation was founded on November 9, 2022, three months after Violet Pimentel was diagnosed with the life threatening disease known as Pyruvate Dehydrogenase Complex Deficiency. Violet's diagnostic journey lasted nine months and included medical gaslighting and harmful delays of care. Her parents, Jon and Frances Pimentel have joined forces with other PDCD parents, patients, and grandparents, as well as Dr. Rebecca Ganetzky (CHOP), Dr. Jerry Bedoyan (UPMC), Dr. Christina Tise (Stanford), Dr. Jordan Williams (Singular Genomics), and Dr. Martina DeSalvo (Amgen) to form the Hope for PDCD Foundation Board of Advisors. Our goals are ambitious. We want to:
• fund a multi-million dollar project for gene therapy research and first in human clinical trial for PDHA1 mutations
• we want to see PDCD to the newborn screen per Dr. Bedoyan's pilot study in Ohio
• standardization of care for PDCD
• a patient registry for PDCD
• and overall equitable access to diagnosis, care and treatment for patients with PDCD.