Addi & Cassi Fund
Our names are Addison and Cassidy Hempel and we are 7 year old identical twin girls who live in Reno, Nevada. In October 2007, after a two year medical odyssey, we were diagnosed with a ultra rare and fatal cholesterol disease that affects only 500 people worldwide. The disease is called Niemann Pick Type C (NPC) and the condition is frequently referred to as “Childhood Alzheimer’s.” NPC is ultimately fatal in childhood and we are in a battle for our lives.
Office of Rare Diseases
The ORDR Web site aims to answer questions about rare diseases and the activities of the ORDR for patients, their families, healthcare providers, researchers, educators, students, and anyone with concern for and interest in rare diseases. The site provides information about ORDR-sponsored biomedical research, scientific conferences, and rare and genetic diseases. It also serves as a portal to information on major topics of interest to the rare diseases community.
A Mother’s Determination And Next Generation Sequencing
When Noah and Alexis Beery were diagnosed with cerebral palsy at age 2, their parents thought they at last had an answer to the problems that had plagued their twin infants from birth. However, that proved only a way station on a journey to find an answer to the children's problems that combined their mother's determination, the high tech world of next-generation sequencing in the Baylor Human Genome Sequencing Center (HGSC) and the efforts of talented physicians from across the country. When the twins reached age 4, it became apparent to their parents that the diagnosis of cerebral palsy did not match the problems
