TOPIC: Featured News
On Monday, April 18, seven members of NORD’s Running for Rare team stretched their legs and put their sneakers to the pavement to take on the Boston Marathon! During the race, NORD staff members Jaime Pacheco, Ed Neilan, Julie Manus, Amanda Thomas and 36 individuals were present and could be heard loudly from the cheer section.
In addition to running,… Read More
TOPIC: NORDPod
Today on NORDpod, Matthew Zachary welcomes Phillip Bright, a senior at The University of Kentucky diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT) at a very young age and has lived an accelerated life facing this rare condition. HHT is a congenital dominant hereditary disorder in which some blood vessels do not develop… Read More
TOPIC: Patients & Members, Patient Stories
While in uterus, Zane had an abnormally large bladder that did not drain properly; however, no diagnosis was given at that time. The doctors monitored Zane closely starting around 20 weeks. He was suspected of having megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) in December of 2012 at six days old. Genetic testing began in January 2013, and official results… Read More
TOPIC: Press Releases, Registries, Members
Clayton, MO, April 19, 2022 —Today, April 19, 2022, The Snow Foundation for Wolfram Syndrome Research and the National Organization for Rare Disorders, Inc. launched the largest-ever study to research Wolfram syndrome, a disease that causes diabetes insipidus, diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders. Wolfram syndrome currently has no cure.
The new study,… Read More
TOPIC: NORDPod
Dr. Adrienne Hammill is Research Director of the Hemangioma & Vascular Malformation Program and Director of the HHT Center of Excellence at Cincinnati Children’s Hospital. Her path to becoming a physician started when she was eight years old when she read an article about retinoblastoma, which is cancer with a genetic cause. She decided then… Read More
