INDIANAPOLIS — Thursday is National Rare Disease Day.
These diseases affect 25 million to 30 million Americans, nearly 10% of the U.S. population, according to the National Organization for Rare Disorders (NORD).
IU School of Medicine’s Undiagnosed Rare Disease Clinic (UDRC) is helping families in Central Indiana uncover the mysteries behind their unknown genetic disorders.
The Indy-based clinic fills a large gap in the region — the closest north is in Rochester, Minnesota and the closest south is in Nashville, Tennessee.
Aly Edmondson spent her whole life wondering what was wrong with her health.
Cataracts, mouth sores, esophageal inflammation, skin rashes and hair loss were her normal.
“It was really hard because I love my hair," the now 17-year-old said.
She spent 16 years going to countless doctor’s visits, making trips to the hospital and working with specialists, with no concrete diagnosis.
“She was constantly sick, she couldn’t swallow, she couldn’t do a lot of things that were normal and couldn’t figure out why," her mother Melissa said.
That’s until Edmondson sought help at URDC.
Director Dr. Erin Conboy says the clinic uses advanced genomic testing, extensive research and collaboration with experts worldwide to solve complex cases like Edmondson’s.
A process that can take months and even years.
“It takes time, effort and a research team to determine that there’s a suspicious gene that might be the cause of a patient’s disorder, find other patients with that same gene, get a large cohort of patients together, make sure they have the same symptoms, same congenital anomalies," Dr. Conboy said.
Edmondson’s diagnostic odyssey finally came to an end this past summer.
“My initial thought was shock. That’s something I never heard before was ‘we found other people that have these same symptoms that Aly has,'" Conboy said.
Edmondson was diagnosed with a rare genetic disorder caused by a mutation of the MBTPS1 gene.
She is one of only nine people in the world with the same disorder.
“This particular gene is important in the mitochondria and it’s important in B2 metabolism," Dr. Conboy said. “When we gave the family our results and what we found we also suggested trying high dose B2.”
Edmondson says taking the supplement has improved her quality of life.
It’s opened up doors for the high school junior to enjoy the things she loves — dancing, hanging with friends and jamming out to Taylor Swift.
“I feel more energized and less tired. And more normal I guess," she said.
Families referred to the URDC pay nothing for the team’s genetic sleuthing, which often spans years.
Riley Children’s Foundation has established a special fund for the clinic to help make their work possible.
