Genetic hearing loss

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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?

Hi,
i have no advice but I’m in almost the exact same situation with my two kids. Would you mind updating on how you got on with genetic testing? Did your DC get diagnosed with ushers in the end? Thanks

Hi there I'm sorry to hear you are still in the awful limbo of not knowing. It took about 9 months in the end to get a result for my youngest DD and then a further 2-3 months for carrier tests to be completed on me and DH and tests to see if my DS also carried the mutation. Thankfully it wasn’t Ushers, instead it was a very rare variant associated with autosomal recessive hearing loss, most likely non-syndromic. The relief was unbelievable when we found out but the waiting was absolute torture so my heart goes out to you. We did chase it quite a lot and politely made a bit of a nuisance of ourselves and I’m not sure if that helped to speed things up a bit (I think it did). Do you know which testing centre/lab is testing your DC?

@MyLimeFish feel free to message me if you want to ask any more questions. I know it’s easy for me to say as I am out the other side now but really try not to worry. Ushers is very rare and a non syndromic cause really is much more likely. I know how you feel as I automatically assumed it would be worst case scenario. Have you had other tests like retinal imaging etc? Have your children be seen/examined by a geneticist to look for any physical markers?

Really appreciate your reply and so pleased to hear you were relieved with your results, that’s excellent news. Will your children be monitored going forward or is it assumed everything is well unless you raise concerns?

my second child was born deaf in 2018, like you we had no previous family history of deafness, including my first child who was born with typical hearing.
our 3rd was born a few months ago with similar deafness to our 2nd.
like you, I was told that comprehensive genetic testing was done on my 2nd with no reason found for the hearing loss (including MRI scan). I asked specifically at the time about ushers but was told it was something they didn’t test for at the time (2019) and it would be up to our DD when she’s older if she wants to test for. I wasn’t happy with that at the time but felt my hands were tied (I couldn’t find any private testing available to us at the time either). I understand that they now do routinely test for ushers as part of the genetic testing.
DC3 was a lovely surprise as didn’t plan to have a 3rd! But when we found out that he was also deaf i immediately assumed it would be ushers considering it was the only thing I’ve been told wasn’t tested for on DC2.
DC2 has had various ophthalmology appointments over the years as well as regular eye tests but nothing else since her original generic testing.
I am only assuming that any non syndromic cause would have appeared in DC2s testing. I feel our genetic counseling really wasn’t very informative as now I’m left with all these questions.
DC2 has been re-referred for additional genetic testing and DC3 is still in the system waiting for initial tests.

I’m quite anxious and stressed as I’m aware that these things can take many months, like you said with yours. A year is a long time for a mum to worry! I know nothing can be done (especially if it is ushers) but it’s the not knowing that doesn’t sit well with me!
thank you again for taking the time to reply to my night-feed panic message! 🙃

@MyLimeFish as far as I know, we will have no further involvement from the genetics team unless something else becomes apparent or evolves over time. We will continue to have opthamology reviews etc. They have said we can call at any time if we have any concerns though. We went through the genetics team in Southampton and the lab at Great Ormond St. I have a good contact there (Southampton) if by any coincidence you are with the same team.

it sounds like we were in a similar situation regarding the genetic testing the first time round. I also raised my concerns re Ushers at the time (2018) and we were specifically told by our paediatrician that the genetics test had ruled out a genetic cause of the hearing loss, including those more sinister causes. We now know this to have been BS as it was standard to only test for connexin at that time, the only time other genetic causes of deafness would have been tested for was if there was a Dani out history or clinical indications to do so, for example physical signs of a syndrome. I think this is because at that time, they did not have the panel test that they now have which means they can test for lots of different things (over 100 I think) at the same time, they only had single gene tests which obviously would take forever and a day if they had to test for each potential condition separately. They just don’t have the resources.

But the way it was handled for us (and sounds the same for you) was really poor. We were dealing with the paediatrician as our first port of call and I think half the problem is that they just don’t have the same level of knowledge as the geneticist regarding genetic hearing loss and so often tend to fill in the gaps that they don’t know with what they THINK is the right answer rather than taking the time to find out. I honestly believe we were misled in 2018 because they didn’t want the hassle of dealing with our questions.

I would be very surprised if your DC2 had had anything other than the connexin gene test. As far as I know now, the genetic panel tests were not rolled out until 2020 and we have been told that unless there was a family history or clinical indication, then only connexin would have been tested for. You have every right to ask that question of your child’s doctor and they have a duty to give you a straight answer so please don’t be afraid to push for it. I hope this puts your mind at rest a bit as I think it makes it much more likely that Ushers is just one of many possible genetic causes, rather than the most likely one.

Sending you love and solidarity as I honestly feel for you and understand how you must be feeling. A year is an incredibly long time to wait and while we know we need to try and put it into perspective (my child’s doctor said that the labs prioritize cases with life limiting illnesses - and rightly so - it doesn’t mean that your child’s situation isn’t important and of course it’s your everything so the concern is absolutely valid). I’m here for you if you need anything x

It’s so refreshing to know I’m not the only one who has felt this way - I can’t thank you enough. My husband is much more relaxed about it and says we can deal with whatever may arise, which of course we can. But everything feels that much more emotionally distressing in the midst of early postpartum.

I understand what you’re saying. Honestly I don’t take for granted that all my children are healthy and happy and loved and I couldn’t ask for anything more - I am so eternally grateful. Agree that the labs must have much more urgent things to prioritize. But you’re right, these little humans are our worlds and we just want that reassurance. Before becoming a parent I never realised how much of a parents time would be spent worrying!

You inspired me to get a copy of what was tested for originally in 2019 and I was so surprised to see that it was only Connexin 26 & 30 that was ordered. Just those two from the original form - I still haven’t managed to get hold of a copy of the results as further proof so we must have only had verbal confirmation of results.
Obviously I am very keen to plough on with further DNA testing to see what we can find.

thank you for letting me talk through this with you and give me some slight relief. I can’t explain how much I appreciate it ❤Worrying really only does take away today’s peace. I would much rather just deal with whatever may be on the cards as and when we have to x

@MyLimeFish I totally get it. I was exactly the same. My husband was very rational and matter of fact about the whole thing too which looking back on, I can see was absolutely the best approach to take but at the time it infuriated me as I couldn’t believe he could be so relaxed about the possibility of something else being wrong with our perfect children. Those post partum hormones have a lot to answer for don’t they? He used to say to me, whatever it is we will cope and the main thing is they are safe, loved and we are doing all we can to get an answer and support for them. I wasted so many months worrying myself sick about it, it sucked the joy out of absolutely everything as it was all I could think about but I realize now just what a waste of time and energy that was. Worrying won’t change the outcome, that’s already been decided so all it is doing is ruining the here and now. I wish I’d been this rational a year ago 🙄I guess what I’m trying to say is, do really try if you can to keep it in perspective, as while it is a (fairly unlikely) possibility, Ushers is just one of many many things that could have caused your childrens hearing loss. Again, if someone had said that to me a year ago, I’m not sure I would have taken it on board so I totally appreciate you might be thinking I’m talking rubbish 🙈

I’m so glad you were able to confirm that your child has only been tested for connexin as it really does open up the field to a wealth of other possibilities rather than focusing on Ushers. It’s terrible that neither of us were given more accurate information at the time of the original genetic tests, I feel it would have saved me a lot of worry and heartache along the way had I known all the facts back then. I’m just happy to have been able to give you a bit of a hand hold, I remember being in your position a year ago, desperate and horrified at what I perceived to be the only likely outcome, trawling the Internet for information (terrible idea as you can make any signs/symptoms fit any given outcome if you look hard enough) and mumsnet for threads that could offer me a bit of hope. I know it won’t have totally alleviated your concern but hopefully our outcome will offer you a bit of reassurance that the likely outcome for you will be similar.

Message me anytime, if you have any questions or just having a wobble, I’ll do what I can to help. For now, try and enjoy your lovely new baby and your family as much as you can and park those worries if at all possible as I promise, no good will come out of letting them take over your life. Wishing you and your family all the very best and please let me know how you get on. X