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Case study: Hannah's story

Hannah is mum to Emmie (3) and here she shares their family's experience of genetic counselling.

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

It was organised when Emmie was born, due to other issues she also had.

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

We were referred after Emmie was born, when she was still in the neonatal intensive care unit.

How long did the results take?

They took three months.  

Did the genetic testing identify a cause to the deafness?

Yes, a skeletal dysplasia was identified as the cause.  

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

As Emmie’s condition is so rare there isn't much information available but it was explained to us well by specialists that her genes affect her collagen which in turn affects her skeleton including bones and muscles in her ears and in her face.

How did you find the overall experience?

It was a good experience – everything was explained to us very clearly.