Oxfordshire parents delighted with daughters progress after gene therapy
The parents of an 18-month-old girl who can hear thanks to a ground breaking gene therapy for deafness, have said they are delighted with her progress
Last updated 9th May 2024
Jo Sandy and her husband James, 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 Eynsham in 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.
Speaking about her daughters Mrs Sandy said: "Although Nora and Opal passed the new-born hearing screening, which picks up the majority of deafness, Opal went for the additional testing which found she was deaf when she was just four days old.
"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.
Speaking about the treatment Mrs Sandy said: "Our initial reaction was we were really nervous it sounded too good to be true.
"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.
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.
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.
"We were told she had near normal hearing last time we visited the doctors, 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."
Now, even without the implant in her left ear, Opal can hear perfectly well thanks to the gene therapy.