Couple’s joy as 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 delighted 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 “gobsmacked” when they realised Opal could hear without the need for a cochlear implant.

Opal now loves slamming her cutlery on the table to make a 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 is the current gold standard treatment.

Opal Sandy, who was born completely deaf because of a rare genetic condition (Andrew Matthews/PA)PA Wire/PA Images - Andrew Matthews

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

“Although Nora and Opal passed the newborn hearing screening, which picks up the majority of deafness, when Opal was a newborn she went for the additional testing and we found out she was deaf when she was four days old,” she said.

“Nora had her cochlear implants on both sides fitted at 15 months old and following that comes quite an intense rehabilitation process of speech and language therapy and audiologist appointments.

“She’s done really well learning to speak and has managed to close the language gap with her peers.

“So, hearing that Opal was deaf – of course there was a grieving process that we went through the same as when we found out that Nora was as well – but Nora had set the bar really high and we knew what was possible with lots of hard work and support from lots of 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 knew of Professor Manohar Bance’s work and that he was running a trial using a gene therapy from biotech firm Regeneron at Addenbrooke’s Hospital in Cambridge.

Opal Sandy, who was born completely deaf because of a rare genetic condition (Andrew Matthews/PA)PA Wire/PA Images - Andrew Matthews

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

She said: “We were quite nervous to go down a different path to one that we knew had already worked so well for our eldest daughter. But it also sounded like a really unique opportunity.

“We sort of had a relatively reliable safety net that, even if it didn’t work, Opal would still be eligible to have a cochlear implant in her other ear six months down the line.

“So that was like a really good sort of safety 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 fitted in her left ear to ensure she had hearing.

There was then a tense wait to see if the therapy had worked, but it became apparent quite quickly that Opal could hear.

“It was about three weeks post-surgery, which was about a week after her implant had been turned on,” Mrs Sandy explained.

“So we were sort of in the routine of testing quite loud sounds like banging, clapping, wooden spoons on saucepans, that kind of really intermittent loud noise.

“I was testing that with her implant on and hadn’t realised that her implant had actually come off, and she turned to pretty loud clapping. When she first turned, I couldn’t believe it.

“I thought it was a fluke or like a change in light or something that had caught her eye, but I repeated it a few times.

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

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

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

She added that “there is no way in a million years I thought that Opal would be able to turn to sound without wearing an implant”.

Some 24 weeks after surgery, in February this year, tests in Cambridge showed Opal could also hear soft sounds such as a whisper.

“The audiologist played back some of the sounds that she was responding to and they were ridiculously quiet sort of sounds that in the real world wouldn’t catch your attention during a conversation,” Mrs Sandy said.

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

Mrs Sandy said: “Without an implant, she can understand basically the same things that she can understand when it’s on, so ‘Opal, where’s your nose? ‘Where’s daddy?’ ‘Who’s at the door?’ ‘Bye bye’ …sort of basic language acquisition, that she can understand just as well with her implant on and off.”

Mr Sandy said he noticed a “massive” improvement in the 18 to 24 weeks post-surgery and the “big moment” was hearing from the team at Cambridge University Hospitals that Opal had near-normal hearing at 24 weeks.

Mrs Sandy added: “Certainly since February, we’ve noticed her sister waking her up in the morning because she’s running around on the landing, or someone rings on the door so her nap’s cut short.

“She’s definitely responding more to sort of what we would call functional sounds rather than just sounds that we use to test her.

“We were told she had near normal hearing last time – I think they got responses at sort of 25 to 30 decibels.

“I think normal hearing is classed at 20 decibels, so she’s not far off. Before, she had no hearing whatsoever.”

Opal has also started speaking in the last six weeks.

“She’s good at all your common first baby words, so ‘daddy’ is a favourite, ‘uh oh’, ‘bye bye’,” Mrs Sandy said.

As for playing, Mrs Sandy said both Nora and Opal like “seeing who can make the most noise”.

She joked: “I always said I’d never get annoyed with them making noise and I do get annoyed with them making noise.

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

“She’s started becoming more interested in books, so like lots of lift the flap books, ‘where’s Spot?’…those kinds of really interactive books, she really likes.

“She loves slamming her cutlery on the table asking us where her dinner is.

“Nora got into music quite recently and (Opal) likes put her arms up and does little dances in the kitchen.

“So they like dancing together. Nora likes reading to her, they like fighting, they like jumping off the sofa.”