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Case study: Julie's story

https://youtube.com/embed/YvA7cW-2NlY?rel=0&showinfo=0

Genetic counselling: Julie's story

In this video Julie kindly tells us about her family's experience of genetic counselling and explains how they found out their son, Joshua, has CHARGE syndrome. 

Julie and her husband James are parents to Joshua (2). Joshua is severely to profoundly deaf in both ears. He currently wears two hearing aids. Here, Julie shares her 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?

Audiologist

When were you referred to a clinical genetics service?

  • April 2018 – We had an initial discussion in a multidisciplinary team meeting where it was agreed that we would be referred.

  • Sept 2018 – We had an initial phone appointment with the genetics service.

  • May 2019 – We had our first face-to-face appointment.

How long did the results take?

The results came back in April 2020 – two years after the initial referral and 11 months after the face-to-face appointment.

Did the genetic testing identify a cause to the deafness?

Yes, they identified CHARGE syndrome as the cause of deafness.

What information did you get about how it causes deafness? Was any information offer on 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 given a brief description over the phone, which was followed up by a letter a couple of weeks later.

The genetic consultant explained the following:

  • We didn’t receive detailed information on how CHARGE syndrome causes deafness. We were told that CHARGE involves a change in a gene called CHD7, which in turn causes hearing loss. We understand that sensorineural hearing loss in CHARGE is usually due to abnormalities in cranial nerve VIII but this wasn’t picked up in detail in our son Joshua’s CT scan.

  • We were told that unless the parents have CHARGE the mutation normally occurs randomly. If the parents do have CHARGE then future children have a 50% chance of inheriting it as the mutation in the CHD7 gene is dominant - as far as I understand. Myself and my husband had parental testing following this, and found that we are not carriers of CHARGE.

  • In terms of implications for our child in the future, the signs and symptoms of CHARGE syndrome can vary a lot from child to child. Fortunately, our son Joshua only notably exhibits a hearing loss and delayed development (many other people with CHARGE also suffer from heart defects, growth retardation, kidney problems, eye problems etc). Since it’s early days, we were advised for our son to continue to be seen by the local paediatric team who have agreed to arrange appropriate assessments as he grows and provide the support he needs to achieve his full potential. As Joshua is only suffering from CHARGE syndrome mildly, it’s unlikely to alter the plan for his medical management.

  • With regard to implications for other family member, since my husband and I aren’t carriers of CHARGE syndrome, there’s only around a 1% risk that our next child will also have the syndrome. However, the risk of our son Joshua having a child with CHARGE syndrome himself is 50%.

How did you find the overall experience?

We found the process very long from start to finish and received our results in a quick phone call during lockdown. This wasn’t ideal but we understand why this was the case and that the experience would usually have been far more accommodating.

The initial phone call where they revealed the results only lasted around 10 minutes, but the geneticist was very helpful and left me with her contact details with the option to phone back with further questions at any time. After researching the condition myself, joining support groups and speaking to another parent whose child had the same condition (who our audiologist kindly put us in touch with), I asked for a further conversation and the geneticist then put around an hour aside to chat with me and my husband. This was really helpful and we were very grateful for this opportunity. She’s also been extremely supportive since by answering any questions I’ve emailed over very promptly and putting me in touch with a genetic counsellor to discuss my options to test for the same condition in my unborn baby when I fell pregnant again.

We are extremely glad we opted to go ahead with genetic testing for Joshua as this uncovered the cause of our son’s hearing loss. It’s helped us to develop a more appropriate support package for our son and be aware of risks for our future children and grandchildren.

Julie has also very kindly written a number of Family Blogs which you can read here: