Couple’s joy when deaf daughter hears thanks to new gene therapy

The parents of an 18-month-old girl who can hear thanks to a groundbreaking gene therapy for deafness have said they are pleased with her progress.

Jo Sandy, a 33-year-old secondary school geography teacher, and her husband James, 33, who works in car manufacturing, said they were “stunned” when they realized Opal could hear without the need for a cochlear implant.

Opal now enjoys hitting her cutlery on the table to make noise and enjoys playing with toy drums, a piano and wooden blocks.

The family, from Oxfordshire, have an older daughter Nora, aged five, who has the same genetic form of auditory neuropathy as Opal and wears cochlear implants, which are the current gold standard treatment.

Gene therapy for hearing loss

Opal Sandy, who was born completely deaf due to a rare genetic condition (Andrew Matthews/PA)

Mrs Sandy told the PA news agency that the couple found out Nora was deaf when she was nine months old. The doctors said that all subsequent children would be entitled to additional hearing tests at birth.

“Although Nora and Opal passed the newborn hearing screening, which detects most deafness, Opal had additional testing when she was a newborn and we learned she was deaf when she was four days old,” said she.

“Nora received her cochlear implants on both sides when she was 15 months old, and then follows a quite intense rehabilitation process of speech and language therapy and appointments with an audiologist.

“She has learned to speak very well and has managed to close the language gap with her peers.

“So when we found out Opal was deaf – there was of course a grieving process that we went through, just like when we found out Nora was deaf too – but Nora had set the bar very high and we knew what was possible with a lot of hard work. work and support from many people.”

The couple first heard about the CHORD gene therapy trial from the ear, nose and throat surgeon at their local John Radcliffe Hospital in Oxford.

The surgeon was aware of the work of Professor Manohar Bance and that he was trialling a gene therapy from biotechnology company Regeneron at Addenbrooke’s Hospital in Cambridge.

Gene therapy for hearing lossGene therapy for hearing loss

Opal Sandy, who was born completely deaf due to a rare genetic condition (Andrew Matthews/PA)

“Our initial reaction was that we were very nervous,” Ms Sandy said, adding that it sounded “too good to be true”.

She said, “We were quite nervous about going down a different path that we knew was already working so well for our eldest daughter. But it also sounded like a truly unique opportunity.

“We kind of had a relatively reliable safety net that even if it didn’t work, Opal would still be eligible for a cochlear implant in her other ear six months later.

“So that was a really good kind of security blanket that we could fall back on if we needed to.”

Opal received a gene therapy infusion in her right ear during surgery last September. At the same time, a cochlear implant was placed in her left ear to ensure she could hear properly.

There was then an anxious wait to see if the therapy had worked, but it soon became clear that Opal could hear.

“It was about three weeks after surgery, which was about a week after her implant was put in,” Ms. Sandy explained.

“So we were kind of in the routine of testing quite loud noises, like banging, clapping, wooden spoons on pans, those kinds of really occasional loud noises.

“I was testing that with her implant on and hadn’t realized that her implant had actually come loose, and she started clapping quite loudly. When she first turned around, I couldn’t believe it.

‘I thought it was a fluke or a change in lighting or something that caught her attention, but I repeated it a few times.

“I picked up my phone and texted James and said, ‘I think it’s working.’ I was absolutely stunned. I thought it was a fluke.”

The couple had been told they might notice a change within the first six weeks, hence Ms Sandy’s surprise.

“I couldn’t really believe it,” she said. “It was… crazy.”

She added that “I never in a million years thought Opal could make a sound without wearing an implant”.

About 24 weeks after the operation, in February this year, tests in Cambridge showed that Opal could also hear soft sounds, such as whispers.

“The audiologist played some sounds that she responded to and they were ridiculously soft sounds that in the real world wouldn’t get your attention during a conversation,” Ms Sandy said.

Now Opal can hear perfectly well, even without the implant in her left ear, thanks to the gene therapy.

Ms Sandy said: “Without the implant she can understand basically the same things that she can understand with the implant on, so ‘Opal, where’s your nose? ‘Where is Daddy?’ “Who’s at the door?” ‘Bye bye’…a kind of basic language acquisition, which she can understand just as well with the implant on and off.”

Mr Sandy said he noticed a “massive” improvement in the 18 to 24 weeks after the operation and the “big moment” was when he heard from the team at Cambridge University Hospitals that Opal had almost normal hearing after 24 weeks.

Mrs Sandy continues: “Especially since February we have noticed that her sister wakes her up in the morning because she is running around on the landing, or because someone rings the doorbell, interrupting her nap.

“She definitely responds more to what we would call functional sounds, rather than just sounds we use to test her.

“Last time we were told she had almost normal hearing – I think they got responses of about 25 to 30 decibels.

‘I think normal hearing is estimated at 20 decibels, so she’s not far off. Before, she had no hearing at all.”

Opal has also started speaking in the past six weeks.

“She’s good at all your regular baby words, so ‘daddy’ is a favorite, ‘uh oh’, ‘bye,'” Ms Sandy said.

As for playing, Ms. Sandy said that both Nora and Opal like to “see who can make the most noise.”

She joked: “I’ve always said I would never get annoyed when they make noise, and I do get annoyed when they make noise.

“So Opal loves to play with her little musical instrument set… drumming, playing her little piano, tapping some of her wooden blocks and things like that.

‘She’s becoming more and more interested in books, so like a lot of flap books, ‘where’s Spot?’… she really likes those kinds of really interactive books.

“She loves to throw her cutlery on the table and ask us where her food is.

“Nora only recently started music and (Opal) loves to put her arms up and do little dances in the kitchen.

“So they like to dance together. Nora likes to read to her, they like to fight, they like to jump off the couch.’

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