Genetic hearing loss

[Headspace1983]

Hi I’m hoping someone can give me some information on genetic hearing loss, perhaps someone with experience in working in the genetics field. My son was born in 2018 with a moderate hearing loss. At that time we had no family history of hearing loss and he was given several tests including a blood test for the connexin gene which proved negative. We now have a daughter too who was born in 2021. She too has a hearing loss although hers is mild-moderate. For some reason she hasn’t had any genetic tests until now (the hospital lost her notes and she fell out of the system but that’s a whole other issue). My question is how worried do I need to be that the cause for their deafness is a syndromic form given that my sons connexin test was negative? I’m absolutely worried sick, I’m not eating or sleeping with the worry over what this could mean for them. To give this some context, when my son was tested back in 2018, we were falsely led to believe that the genetic testing he was having was comprehensive enough to discount the syndromic forms of genetic hearing loss and it’s only in the last week or so after doing some digging that we’ve discovered the lack of testing he was actually given. Feeling so let down and angry about it but just can’t stop worrying about their hearing loss being down to something more serious like Ushers. Please can someone help?

I saw your question was unanswered. All I can say is Ushers is extremely rare. When my daughter was diagnosed with hearing loss the last case diagnosed in our area was over 20 years previously.

I understand the grief that comes with it all though, I was on beta blockers for a while to help me through.

Sending you hugs xx

Thank you for your message. When you say your daughter was diagnosed, do you mean with hearing loss or with Ushers? I do understand it’s fairly rare but I’m just concerned that now connexin has been ruled out that the chances are their deafness is due to one of the rarer causes. I had made my peace with their hearing loss and that took a long time but now I have to deal with the prospect that there could be further health problems on the horizon, I’m finding it all too difficult

My dd does not have Ushers.

Why do you think their deafness is linked to another issue? Lots of children are deaf but do not have any other problems.

I don’t know really, I’m a real worrier by my very nature and I think a lot of it stems from the PND I suffered from after my sons birth combined with the concern and grief we initially had about his hearing loss. I think now we know the hearing loss hasn’t been caused by the connexin gene (which I understand is the major cause of genetic deafness) I’m worried the odds are more in the favour of it being one of the rarer (and scarier) causes. Not necessarily the most rational conclusion to come to I’m sure but I’m really struggling with the not knowing and the prospect of not knowing for many more months to come xx

I understand the grief that comes with a diagnosis of deafness, but I think you should stop looking for additional problems. They will present themselves if they are there. Busy yourself with supporting them. They are going to need additional support in nursery and school, and specialist equipment to ensure they reach their potential.

When I was at my lowest, someone told me to stop wallowing and pull myself together. They were harsh words but I needed them.

Hi OP
i am in the same situation with 2 out of 3 of my children. Connexin was ruled out as was any structural issues with an MRI. Therefore i automatically am assuming it will be usher syndrome based on that being the only thing that wasn’t tested on my eldest originally.
would you mind sharing me with now you got on?

Hi all, I was in a very similar position. My MH got so bad with the Ushers anxiety that we went privately (£2k) to have genetic testing and found that he has STRC related hearing loss. He has “deafness infertility syndrome”. As I understand it the infertility bit could be addressed with ivf if he wants in future. There is possibly another genetic cause which could theoretically affect vision but there’s so much uncertainty that we don’t want to go through the stress of additional testing now (would need to test parents). Really feel for you. It’s a lonely journey that few understand. @Headspace1983 @MyLimeFish

Hi. Thanks for your message. Would you mind sharing how you went privately? Is there a particular company or avenue you’d recommend?
I was initially concerned about Ushers but now I’m worried sick about other things too, including fatal conditions. Not sure I can cope with the waiting

@MyLimeFish so sorry I didn’t reply to this - my notifications weren’t set up. I went via The London General Practice. They are actually GPs but can order the tests and have geneticists who can advise further if needed. Hope you have answers by now xxx

Thank you that’s very useful.

yes we’ve had results back recently and unfortunately we have a confirmed Usher Syndrome diagnosis. Heartbroken and so worried for them

I’m really sorry to hear that. There are no words. I hope you can find other families in the same boat to talk to and that the initial shock passes soon xxxx