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Evansville teen diagnosed with rare genetic disorder

Evansville teen diagnosed with rare genetic disorder – News 8 at 10

INDIANAPOLIS (WISH) — Since she was a baby, Aly Edmondson dealt with a myriad of health problems, ranging from esophageal inflammation to cataracts, mouth sores, and hair loss.

Doctors also discovered that the Mitochondria in Aly’s cells weren’t functioning properly, meaning she was constantly fatigued.

“It was hard to do everyday things, and I was tired all the time and I couldn’t do as much as my friends,” said Aly.

Aly’s mom became concerned when, as a baby, Aly wasn’t growing or putting on any weight. The family went from specialist to specialist, but no one could figure out what was wrong with her.

“It was kind of these things in the beginning of her life where if we can fix this, then that will get better, then if we can fix this thing, she won’t have that thing, but nothing just ever got better,” said Aly’s mother Melissa Edmondson.

Aly’s family connected with Dr. Erin Conboy with the Indiana University’s School of Medicine’s Undiagnosed Rare Disease Clinic.

Conboy began working on Aly’s case in 2018. At first, she could not find a gene that matched Aly’s symptoms. Conboy said there are 20,000 to 30,000 genes out there, but only 6,000 are known to scientists.

Conboy stayed persistent, and in 2021, discovered Aly has an unnamed genetic disorder.

“With a little bit more digging and understanding, we found six other patients that were similar to her, and enough clinical overlap that we were able to bring the family back and tell them this was the diagnosis for her,” said Conboy.

Aly’s mom Melissa said doctors also discovered that treating Aly with vitaman B-2 helped reverse some of her symptoms.

“She says she has more energy, her hair is coming back, her esophagus actually has some normal skin cells in it,” said Melissa.

Aly is healthy, and like most teenagers, enjoys shopping and hanging out with friends. She is also taking dance classes.

“I just feel overall better,” said Aly.

After high school, Aly said she wants to get into the fashion merchandising business.

The Undiagnosed Rare Disease Clinic is holding a fundraiser to help support its research.