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Getting to grips with genetic testing

Photo: Sisters Jessica and Penny share a special bond

When Jessica (9) was diagnosed as profoundly deaf at 10 weeks old, her parents were thrown into a whole new world. 

“It was a bit of a whirlwind,” says Jessica’s dad Oli. “We were bombarded with new information.” Oli and his wife Sarah were told that if they wanted Jessica to be able to hear, she needed to be fitted with cochlear implants.

“I was in shock,” says Oli. “We didn’t know anything about deafness and a lot of the information we were given was very medicalised. Sarah’s a GP, so perhaps they thought we could take it. Looking back, it felt like deafness was being articulated as a disease rather than a culture.”

As the family prepared for Jessica’s implantation surgery, they were told she would be genetically tested to find out why she was deaf.

“We were never asked, ‘Would you like to be tested?’ It was just another appointment which we got through the post. We thought it was part of the process.”

Sarah, Oli and Jessica all had their blood tested, and received the results during a later appointment. “We were given the results while Jessica was waiting to be fitted with earmoulds,” says Oli.

“It was so rushed, nobody really explained to us what the results meant.”

The test showed that Jessica’s deafness was caused by a mutation of the Connexin 26 gene. The mutation is non-syndromic, meaning it doesn’t cause any other medical problems.

“That was a relief,” says Oli. “I remember thinking that Jessica could potentially have other medical problems which the test might pick up.”

The results showed that the mutation was hereditary. Although Sarah and Oli are both hearing, they’re carriers of the Connexin 26 mutation. This means that any further children the couple had might also inherit the gene, although that didn’t put them off having another child. By the time Sarah became pregnant again, the couple had learned that the gene was more likely to be inherited if the child was a girl.

"When Sarah was pregnant with Penny, we were far more prepared because of the information we had from the genetic testing,” says Oli. However when Penny was born one month early, she had additional medical problems unrelated to Connexin 26.

“She had breathing problems which meant she was in and out of hospital, so that preoccupied our time.” Penny (6) was also diagnosed with cyclical vomiting syndrome, a rare disorder which causes bouts of vomiting and nausea.

“In and amongst it, we were prepared to be told Penny was deaf,” says Oli. “She was diagnosed when she was six weeks old. We saw a different audiologist, who sat us down and said, ‘I’m really sorry to tell you this, but your daughter’s deaf.’ She seemed quite surprised that we weren’t more upset!”

Like Jessica, Penny was also fitted with cochlear implants. “Our experiences with Jessica definitely helped,” says Oli. “We understood the surgery and what we had to do during the recovery period. Penny recovered more quickly than Jessica, she breezed through it. She was bouncing around the next day!”

Having a big sister with the same type of deafness is helpful for Penny, too. “They bicker like most siblings,” laughs Oli. “But when we’re out and about they stick together, because they experience things the same way. Penny will often look at how Jessica is responding to something and then respond similarly. They’re also going along similar trajectories in their speech and comprehension.

“I think they’ve learned from each other. They’ve developed differently but I think they have the same experience of deafness. For example, a few years ago Jessica asked if she’d still have to wear her implants when she grows up. It was heartbreaking. Recently, Penny asked the same question. They seem to be processing things in the same way.”

Although Jessica and Penny are doing well at mainstream school, Sarah and Oli are keen for them to be aware of deaf culture. The family is learning British Sign Language, attends deaf events and spends time with other deaf children.

“I want them to have the option to integrate with the deaf community in the future,” says Oli. “Although they have cochlear implants, they’re still deaf and I don’t want them to feel that it is a strange world to them.

“Looking back and knowing what I know now, I would have liked there to be more information about deaf culture in the initial process of diagnosis.

"I think it’s important for parents to understand that deafness isn’t just a medical issue, it’s a culture.”

Oli doesn’t regret having Jessica genetically tested, but thinks the results should be more clearly explained. “Genetic testing won’t define your child or their deafness, it’s just a test to see whether they might need any more help. For example, if the test results reveal your child’s deafness is part of a syndrome, there might be other things you can do to help them. It doesn’t change who your child is.

"For us, genetic testing didn’t change anything.

“Just treat it as another piece of information that you can use to make a better informed decision about what you want to do for your child and the kind of life you want them to have.”