Genetic hearing loss: Ava’s story

genetic hearing loss

At four years old Ava’s parents notice something different about their daughter’s behavior. In addition to being quiet and withdrawn, Ava appeared to have trouble hearing. Ava was referred to U-M C. S. Mott Children’s Hospital. Her doctor was able to explain the cause of her hearing loss and, more importantly, treat it.

Steve and Diane began noticing something different in their daughter Ava’s behavior when she was four years old. In addition to being quiet and withdrawn, she appeared to have trouble hearing. “We were at a birthday party and we were having to talk to her so loudly,” said Ava’s mother Diane. “It was so clear to the others at the party that something was wrong.” That was the wakeup call they needed.

After almost seven months of seeing various physicians and specialists, a genetic test revealed Ava had inherited two different mutated genes — one from each parent — resulting in hearing loss.

Ava’s parents were shocked. There was no family history of any hearing issues, let alone genetic hearing loss. “We were carriers. But when you’re a carrier you don’t know that you have an issue, but you can pass that genetic code onto your children.”

Until recently, little was known about genetic hearing loss. U-M C.S. Mott Children’s Hospital is one of only a handful of hospitals in the world researching genetic hearing loss in addition to treating it.

“Originally we started out a different hospital because of our health plan,” said Diane. “But once the specialist there realized what the genetic results were, he immediately said, ‘I’ve got a perfect person that you need to see over at Mott Children’s Hospital. She’s a specialist in genetic hearing loss; that’s her passion; that’s what she researches.  “Which was Dr. Marci Lesperance.”

With the help of Dr. Lesperance, Ava and her parents were not only able to understand the cause of her hearing loss, but also how to treat it, which included getting hearing aids for Ava.

“Now she’s a lot more confident in social situations because she can hear what people are saying to her and respond appropriately,” said Diane. Her parents have even recently noticed Ava humming and singing along to the radio. “It’s sweet to hear her humming,” Diane added. “And it’s just fun to watch as a parent to see your child flourish.”

In addition to being able to hear, when it comes time for Ava to have a family, she now knows in detail what she carries and how it might affect her own children one day. As Diane said, “Now we feel armed with knowledge, and knowledge is power when you think about it.”