by The parents of an 18-month-old girl who is deaf thanks to a new gene therapy 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 realized Opal could hear without an implant. cochlear.
Opal now loves banging her cutlery on the table to make noise and loves playing with toy drums, piano and wooden blocks.
The family have an older daughter, five-year-old Nora, from Oxfordshire, who has the same genetic form of auditory neuropathy as Opal and wears cochlear implants, which are the current gold standard treatment.
Mrs Sandy told the PA news agency the couple discovered Nora was deaf when she was nine months old and doctors said any children after that would be entitled to further hearing tests at birth.
“Although Nora and Opal passed the newborn hearing screening, which most cases of deafness, when Opal was a newborn she went for further testing and we found out she was deaf when she was four days old,” she said.
“Nora was fitted with cochlear implants on both sides when she was 15 months old and after that comes an intensive rehabilitation process of speech and language therapy and audiologist appointments.
“She has done very well in learning how to speak and has managed to close the language gap with her peers.
“So when we heard that Opal was deaf – of course there was a painful process that we went through as well as when we found out that Nora was also – but Nora’s bar was high and we knew what was going on possible with a lot of it. hard work and support from many people.”
The couple first heard about the CHORD gene therapy trial from the ear, nose and throat surgeons at their local John Radcliffe Hospital in Oxford.
The surgeon was aware of the work of Professor Manohar Bank and that he was running a trial using gene therapy from the biotechnology firm Regeneron at Addenbrooke’s Hospital in Cambridge.
“Our initial reaction was that we were very nervous,” Mrs Sandy said, adding that it sounded “too good to be true”.
She said: “We were very nervous going down a different path to one that we knew had already worked so well for our eldest daughter. But there was also a unique opportunity.
“We had a pretty reliable safety net, even if it didn’t work, Opal would still be eligible to have a cochlear implant in her other ear six months later.
“So that was like a really good kind of safety blanket that we could fall back on if needed.”
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 had hearing.
There was a tense wait to see if the therapy worked, but it became clear pretty quickly that Opal could hear.
“It was about three weeks after the surgery, about a week after her implant went in,” Mrs Sandy explained.
“So we were sort of in the routine testing very loud noises like banging, clapping, wooden spoons on soap, that kind of really loud traffic noise.
“I was testing that with her implant on and I didn’t realize her implant had come off, and she turned around clapping quite loudly. When she first turned, I couldn’t believe it.
“I thought it was a puke or a change in light or something that caught her eye, but I repeated it a few times.
“I picked up my phone and texted James, and said ‘I think he’s working’. I was completely gobsmacked. I thought it was a puke.”
The couple were told they could notice a change within the first six weeks, much to Mrs Sandy’s surprise.
“I really couldn’t believe it,” she said. “It was… bonkers.”
She added that “there is no way in a million years that I thought Opal would be able to turn to sound without wearing an implant”.
Some 24 weeks after the surgery, in February this year, tests in Cambridge showed that Opal could also hear soft whisper-like sounds.
“The audiologist played back some of the sounds she was responding to and they were very quiet sounds that wouldn’t attract your attention in real life during a conversation,” Mrs Sandy said.
Now, even without the implant in her left ear, Opal can hear perfectly thanks to the gene therapy.
Mrs Sandy said: “Without an implant, she understands basically the same things as when it’s on, so ‘Opal, where’s your nose? ‘Where’s daddy?’ ‘Who’s at the door?’ ‘bye’
Mr Sandy said he noticed a “tremendous” improvement in the 18 to 24 weeks after the surgery and the “big moment” was to hear from staff at Cambridge University Hospitals that Opal had almost normal hearing at 24 weeks.
Mrs Sandy added: “Ever since February, we’ve noticed her sister waking her up in the morning because she’s running around on the landing, or someone bangs on the door so her sleep is cut short.
“She’s definitely responding more to what we would call functional sounds rather than just sounds that we use to test her.
“We were told she had almost normal hearing last time – I think they got responses between 25 and 30 decibels.
“I think normal hearing is classified at 20 decibels, so it’s not far off. Before this, she had no hearing.”
Opal has also started speaking in the last six weeks.
“She’s good at your first common baby words, so ‘daddy’, ‘uh oh’, ‘bye’ are her favourites,” Mrs Sandy said.
As for the play, Mrs Sandy said that Nora and Opal would like to “see who can make the most noise”.
She joked: “I’ve always said I’d never be bothered by them making noise and I hate them making noise.
“So, Opal loves playing with her little musical instrument … playing the drums, playing her little piano, knocking on some of her wooden blocks and things like that.
“She’s more interested in books, so like lifting up a lot of flap books, ‘Where’s Spota?’ … those kinds of interactive books, she really likes.
“She loves banging her cutlery on the table asking us where her dinner is.
“Nora has recently got into music and (Opal) likes to put her hands up and does little dances in the kitchen.
“So they like to dance together. Nora likes to read with her, they like to fight, they like to jump off the sofa.”
