Rare Disease Day: 3 Local Siblings Diagnosed With Same Never-Before-Identified Genetic Disorder
PHILADELPHIA (CBS) -- Monday is Rare Disease Day, which aims to bring attention to the struggles facing millions of people who live with many unanswered questions and limited treatment options.
Three siblings from one local family have all been diagnosed with the same genetic disorder, one that had never been identified before.
They're still in search of better treatments, which is what Rare Disease Day is all about.
In many ways, the Shoener Children are just like most kids but they also happen to have a unique genetic disorder.
"They were the first in the world to be identified," mom Rachel Shoener said.
Each of the children -- between the ages of 7 to 11 -- had a variety of physical and cognitive issues that were a mystery for nine years.
"But not as frustrating as it was to be told we don't know what it is," Shoener said.
Finally, doctors and researchers at Children's Hospital of Philadelphia figured out what was wrong using a new kind of DNA sequencing.
"I believe that this and many other rare genetic diseases have been with us through human history and it's just now that we're identifying them," Dr. Andrew Edmondson said.
Edmondson says nine others around the world have also now been identified as having the same rare disease.
"It was exciting to have a label, but it didn't change anything about what we were experiencing," dad Rob Shoener said.
They're hoping Rare Disease Day will help improve funding for research leading to better treatments.
"When there's a rare disease and only a few affected individuals, it's hard to mobilize resources to convince government agencies, pharmaceutical industry and research enterprises to really study those rare diseases. But by pooling those individuals together we're able to show that having a rare disease in and of itself is not rare," Edmondson said.
It's estimated up to 30 million Americans, and 300 million globally, are living with a rare disease.
