The 2016 Rare Disease Day Symposium is set for February 26-27 at Sanford Burnham Prebys Medical Discovery Institute in La Jolla.
“We have been the only academic, non-medical lab that primarily studied CDG (congenital disorders of glycosylation) and sought to bring doctors, researchers and families together. These efforts have enabled us to ‘research diagnose’ nearly 200 cases of CDG and aid in the discovery of 18 new genetic disorders,” says Hudson Freeze, Ph. D., organizer of the symposium and member of the Global Genes Medical Scientific Advisory Board.
“These families want answers. We are so pleased to be able to bring them together and give them the opportunity to meet with researchers and clinicians. There is strength in numbers, even if their child is only one of a few cases in the world.”
That weekend, 20 researchers and doctors will come to the San Diego area from all over the country to talk about advances they’ve made in researching and identifying rare diseases.
Now 20 patients, made up primarily of children and their families from all over the country will be there too, some with the hopes of turning these scientists into detectives to find out what is causing the developmental disability, during an intimate session called “The Doctor Is In.”
One of those families is from Linda Vista, California.
Damian Omler is 10 years old, in a wheelchair and needs assistance bathing, eating, and doing many other day-to-day tasks. He is on a cocktail of medications, and his parents are hoping the samples they sent to Dr. Hudson Freeze’s research lab will be deciphered to identify a genetic reason for the disability, and generate answers that may lead to a way to slow down the boy’s degeneration.
“We are hoping for a cure, or any medical advances made by researchers in the lab,” says Damian’s father Donnie. “We just want Damian to try to live a semi-normal life. We go day by day, and try to look on the bright side of things.”
Damian’s mother Gracie added, “The more people know about the kids who live with these rare diseases, the more money will go into funding research.”
Another family coming to the symposium is also from San Diego. Diana Papworth’s two children are in their 30’s but act like they are 7 years old. After 33 years, Diana FINALLY has a diagnosis for her kids, of the rare metabolic disease CDG, but now they are left with the question what can we do?
“My kids are amazing and super social,” Diana says. “I’m not sure if knowing what they have will help them as they live their lives, but maybe it will help other kids who are diagnosed.”
Find out more about SBP’s Rare Disease Day Symposium here.