Non-syndromic hearing loss and deafness, DFNB1 (GJB2-related).

[ZealAndArdour]

Hi all,

Not sure if anyone will have any awareness or experience of this. Through 23andMe we have just found out that my partner and I both carry this gene variant, which the provided information states could result in a 25% chance of us having an effected child.

Non-syndromic deafness is present from birth, non-progressive and is a spectrum from very mild hearing impairment all the way to profound deafness.

I’m still just working through all my thoughts and feelings about it all, and was hoping to gather some other views to make sure my pondering on the subject is rigorous enough, really.

I feel like if we’d not known this information prior to TTC, and been presented with a deaf baby, we would have gone about our lives and done our absolute best for them and accepted it. But now that we do know of the risk, it feels ethically wrong to willingly take the risk of having a deaf child, in a world that is still not set up to cater to disabled people.

I think our next steps will need to be speaking to a genetic counsellor, I can access this privately if necessary, but will speak to GP in case going through the NHS would help access more options in terms of IVF/Embryo selection (don’t even know if this is an option at the moment), etc.

Please understand I’m not saying I’d hate to have a deaf or disabled child, I’m just saying that I’m aware that it’s a harsh and unkind world out there, and if there is some way that I can make sure that our future children don’t have to struggle then I would like to explore that. I’m a nurse by background, so I’m confident that I can navigate the system and do my best to advocate and care for a child if they were effected, but of course it would be better for everyone, especially a child, not to be deaf.

Music, gigs, playing in bands, etc are very big parts of both our lives, the thought of our child not having access to something we enjoy so much is really difficult to come to terms with.

Can anyone signpost me anywhere with more information? Do you have this gene? Do you have a deaf child and feel comfortable to share your experience?

Thank you.

My deaf child has a syndromic condition causing deafness (and it is caused by a de novo mutation in her rather than something we carry) so I don't have experience on that side of things.

But I think your comments about music in particular do show some (understandably) narrow assumptions about how deaf people can and do participate in music. Check out the Audiovisibility project, for example, or the CV of Eloise Garland, whom I've met and is very passionate about music and deafness.

(Just to mention as a side point that IME this particular protein tends to be referred to more often among non-medical people as connexin 26 than as GJB2, so if you're looking for parents or deaf individuals with experience it may help to use that term as well)

Thanks for responding, and I agree, I probably do have a very narrow view of what life is likely to be like for a deaf person in terms of music and enjoyment, thank you for putting me right and I’ll definitely check out those people you mentioned. Useful to know the terms to look for so we can read some more about it.

One of my cousins is partially deaf, it wasn’t found/fully noticed until he was around three or four. At the time a big thing was made that he may have bumped his head or something to cause it (I was only little at the time, so don’t know the full story) but it certainly wasn’t a big significant head injury that required hospital or scans or anything, I think just his parents wanting something to blame, maybe. Knowing what I know now, I wonder if he might have had this type of hearing loss too? I am not close enough to that side of my family to ask these kinds of questions, but he has led a totally normal life and despite his speech sounding different when we were younger.

I am totally naive about all of this, I don’t know anything about what genetic things would have to happen for this trait to be expressed in our children.

My husband and I are both carriers for neurosensory nonsyndromic recessive deafness, DFNB9. So not the same gene, but same chance (25%) of having a deaf child (but almost certainly profoundly deaf from birth in this case). We didn’t know this before having kids, and have no family history of deafness on either side.

Our eldest is profoundly deaf and has cochlear implants. It’s not without its challenges, raising a deaf child, but she’s amazing and I wouldn’t change her for the world. We’ve been great advocates for her (if I do say so myself!) so she has brilliant support at school, in extra curricular activities, etc.

We were told before TTC #2 that it was almost certainly a generic cause, almost certainly a recessive gene mutation we both carried. So we pretty much knew there was a 25% of our second child being deaf too. We wanted two kids, so we went with it, happily knowing that they could be deaf. He is hearing. Shortly after he was born we found out the genetic results.

I don’t want any more kids anyway, for many reasons, the main one being I am done! But knowing we both carry this gene does cement the decision somewhat!

happy to answer any specific questions

I am a Teacher of the Deaf and have a wide experience of children with hearing losses caused by a range of genetic causes ( 28 years!)

People sometimes think the word "deaf" means you can't hear anything but it is a very wide spectrum from mild to profound.

In the last year I have had 5 babies on my caseload who all have deafness caused by connexin 26. Two had a mild/ moderate deafness, one moderate/severe and the other profound.

The profoundly deaf child has recently been fitted with cochlear implants and doing really really well. The others have hearing aids and also doing well. Yes it's more work than perhaps a hearing child- more hospital visits for one thing ( impressions for ear-moulds have to be made weekly to start with!) and also being vigilant as little ones do have a habit of taking them off! Hearing aid/ implants technology is pretty amazing these days and is improving all the time.

With the right support from parents and professionals there is no reason why a deaf child wouldn't have the same potential as any other child ( although my experience is this is sometimes down to where you live- where I work the support is exceptional but that's not always the case. ) many of the pupils I have worked with in the past have done very well at school and gone onto university and fulfilling careers.

I always recommend parents contact the NDCS- there is a very good website full of info and also a helpline.

Thanks for responding everyone, you’ve made me feel quite a bit better about everything and given me some food for thought.

My partner is very much of the “it’ll be fine, we’ll be fine, the (theoretical) baby will be fine” mindset, but I can’t operate like that. I need to know all of the things and prepare myself in advance for every eventuality.

The parents of deaf children who has commented, how did you first find out? At the newborn hearing screening or later on?

Does anyone know if we have any entitlement under the NHS for genetic counselling/testing pre conception? Or is it a case of wait and see if your first baby is effected, and if there’s a problem we’ll check things out in advance of further pregnancies?

I know that HCP’s are likely to roll their eyes about how we’ve come about this information, or question it’s validity (understandably), but we can’t now un-know it. I googled for my local clinical genetics service and there was nothing mentioned on their referral criteria about Connexin 26 or congenital hearing problems. Is it not considered “significant” enough for access to those kinds of services?

We found out via newborn screening.

I believe that your GP could refer you for genetic counselling but there's likely to be a reasonable wait.