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Case study: Leticia's story

Leticia’s daughter is three and a half and wears hearing aids, but is awaiting cochlear implant surgery. Here they share their family's experience of genetic counselling. 

Names have been changed at the family’s request.

When were you referred to a clinical genetics service?

We were initially asked if we wanted testing but we said no. Then, when my daughter’s hearing loss was identified as progressive we were encouraged to have genetic testing. We were referred by the ENT team to clinical genetics.

How long did the results take?

It took about eight months after our daughter was tested. They used the blood from her newborn heelprick. We were then contacted by clinical genetics, by phone as during the first lockdown, to ask if we gave permission to test our blood in order to confirm what they had found. This was very stressful as they wouldn’t disclose at the time what it was that they had found. We waited a further three months but hadn’t heard anything so I contacted them. I eventually had a conversation with the geneticist about the findings around 12 months after my daughter’s initial testing. 

Did the genetic testing identify a cause to the deafness?

Our results were complicated. They found novel gene anomalies in two parts of the MYO7A gene. This gene can cause either progressive hearing loss without other signs or Usher Syndrome. She’s inherited one anomaly from me and one from her father. The results are inconclusive - she could have Usher Syndrome or she could have progressive hearing loss. We’ll only know more when she gets older and does or doesn’t develop other symptoms of Type 1 Usher Syndrome. 

If it did, what information did you get about how it causes deafness? What were you told about how it’s inherited, what it means for your child in the future and any implications for other family members/future children etc?

We’re told that this is a recessive inheritance. In our situation we’d have a one in four chance of having another child with the same gene anomalies. We were told the implications if it is Usher Syndrome and we were also told that we would have the option of embryonic screening if we did want to have another child.  

Note: ‘Embryonic screening’ refers to the process called Pre-implantation Genetic Diagnosis (PGD). Find more information about PGD from the NHS.

If a cause wasn’t found, how was this explained to you?

So no definite cause was found, because they’ve never seen these two specific gene changes before so could not tell us whether they cause progressive deafness or Usher Syndrome. We were told that this isn’t because it doesn’t exist in other humans but that it’s never been recorded in anybody who has had genetic testing. 

How did you find the overall experience? Is there anything else you’d like to add?

The whole experience was long and quite stressful for a result that’s inconclusive. In all honesty, we’re not sure whether it’s good to know the possibility of Usher Syndrome or not. It’s difficult not to think about the ‘what ifs’ but we continue with life as normal and feel utterly blessed with the beautiful, clever and inspiring little girl we have.