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Case study: Emma's story

Emma is mum to Isaac (5), who has a severe hearing loss and wears a hearing aid. She also has Ethan (6 months), who is hearing. Here she shares her family's experience of genetic counselling.

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

We were referred by our community paediatrician for genetic testing when Isaac was first born. They looked at the Connexin 26 gene and a negative result came back relatively quickly. We were then told no further testing would be done as this is the most common genetic cause of deafness.

We then moved to a different part of the country and to a new hospital who were much more proactive at helping us to find the cause. My son underwent CT and MRI scans and it was discovered that Isaac had Cochlear Dysplasia Type 2. As a result of these scans and this finding we were referred by our community paediatrician to the genetics department at Addenbrookes. We were then referred as one of the last eligible families to the 100,000 Genome Project in August of 2018.

When were you referred to a clinical genetics service?

We were referred back to our original hospital for genetic counselling by our paediatrician at Peterborough who then referred us to 100,000 genome project.

How long did the results take?

The Connexin 26 results took a couple of months and the 100,000 Genome Project results took just over 18 months.

Did any of the tests identify a cause of deafness?

Yes, the 100,000 Genome Project identified a specific gene which is very rare and is also present in my DNA.

What information did you get about how this causes deafness? Did you get any information 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 were called in to see a genetic counsellor and the results of the findings were explained to us. They explained how Isaac inherited the gene and how he could possibly pass on the gene to his own children going forward.

They couldn't be certain that this gene caused his deafness but they said it was very likely as they had such little information on this specific gene.

At the time of the appointment I was 16 weeks pregnant with our second child. The genetics counsellor explained the possibility for this pregnancy and how the gene may be inherited by the new baby. We were told if the baby was a girl she wouldn't be deaf but could be a carrier of the gene and if the baby was a boy it would be 50/50 as to whether this baby would also be born deaf. We were also offered DNA testing for the baby once they were born and given a form to store cord blood at birth which means we could make a decision on genetic testing at a later date.

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

Overall the experience was fine, but lengthy! We were lucky to get an answer at the CT and MRI scans stage. I do wonder if we hadn’t moved house whether we would have ever been offered these investigations and then the 100,000 Genome Project.

Ultimately the genetic results didn't stop us having more children but it’s so useful for Isaac to have answers for himself and the information should he chose to have children of his own. We now also have a ten-week-old boy who passed his initial hearing screening and although his cord blood was stored for testing, we don't need to proceed with genetic testing for him.

Emma has also very kindly written some Family Blogs, which you can read here: