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Case study: Gill's story

Gill* has a four-year-old son. Here she shares her family's experience of the genetic counselling process. 

Who organised the genetic testing and other investigations into the cause of your child's deafness?

We were referred to our paediatrics department at the local hospital and they arranged referral to genetics team. We were also asked at this point whether we wanted to be considered to be a part of the 100,000 Genome Study - which we agreed to.

You can find out more about this project on the Genomics England website.

When were you referred to a clinical genetics service (if at all)?

I think we were referred quite quickly, certainly within a few months of my son’s hearing loss diagnosis. We got the appointment through a few months after that.

How long did the results take?

It felt like the results took ages – it was at least 3-6 months. I also asked our local paediatrician to liaise with the genetics team following our son’s diagnosis of enlarged vestibular aqueducts after an MRI (as part of cochlear implant assessment) as I had heard and read that it was often associated with Pendred’s syndrome. This was ruled out within 1-2 months of my query.

Did the genetic testing identify a cause to the deafness?

No cause was identified.

How was this explained to you?

It was explained in a letter that there wasn’t an obvious genetic cause for his deafness. We then got the results from the 100,000 Genome Project via post. They were significantly delayed, taking approximately 18 months in total, due to an admin error which was frustrating but no genetic reason was identified via this project either.

How did you find the overall experience?

We were advised throughout the process that it was likely we may never know why our son is deaf and that a cause may not be found. I found this really helpful as it meant my expectations were always fairly realistic. I did still feel a little disappointed when we got the initial genetics letter advising no genetic cause had been found. I felt the same again when we finally got the results from the 100,000 Genome Project, but I’ve come to accept it now. 

Despite these results, I think if we have any more children, I won’t feel confident that they don’t have a hearing loss until they’ve had their newborn hearing screening. 

*Names have been changed at the family's request.