Hi Ottooctopus

Thanks for taking the time to reply, I really appreciate it. 

Wow, 6-9 months, really? Sounds like the doctors we are dealing with are seriously out of touch with reality by giving us unrealistic expectations of several weeks rather than several months! Why does it take so long? Do you know? That's insane. We've been given so little information, I don't even know for sure what tests they are doing, as we have never had any communication with the genetics team, just the Paediatrician.

Which genetic testing centre are you with? We are with Southampton. Has your son had the connexin test already? Both my children have a mild-moderate loss and while we've been told that they don't suspect a syndrome to be involved, from what I've read at this stage a lot of other problems wouldn't present with other symptoms yet which is what really worries me. 

Would you mind updating me when you get your results? I really hope it's all good news for you guys and that you get some answers soon, you've waited long enough! 

Take care xx

Hi all thanks again for all your responses. Im not sure my original post was very clear, my daughter will be tested for the other causes of hearing loss as connexin has already been ruled out. That said, we have been given no visibility on what those tests are exactly or a realistic time frame within which to expect the results. As I said before, our paediatrician said 'several weeks' which we already know is unrealistic considering the connexin test results for my son took over four months. I'm concerned that we're in for an even longer wait this time. I am a natural worrier so i am trying to relax and not stress over it but it's very hard not to. Made the rookie mistake of googling all the things it could be (and convincing myself it's definitely one of the rarer (and scarier causes) and focusing on those rather than reality. I obviously have no knowledge of genetics but just can't understand why the wait is so long. Would be good if someone could enlighten me as to the reason why these tests take so long? It's the not knowing and fear of the unknown that I find hardest.

Many thanks again for your replies. Xx

Hi, 

I don't know where the bloods would have been sent but we are in Berkshire and they may well have been sent to Southamp or Oxford.

I should think that part of the delay is the number of things they test for - as I understood it there are nearly 100 known genetic causes of hearing loss, that not to say they are all inherited conditions, some are random mutations that are known to cause hearing loss. 
also I think that the genetic testing labs are few and far between and i Would guess a hearing loss panel isn't time critical unlike a test for a baby that is unwell and they need to find the cause. My son hasnt had the connexin test so this will also be tested for. 

i Also read that in 40% of cases they don't identify a cause for hearing loss so i may never know the cause. I think with some of the 'scarier' diagnoses the fact of the matter is that the testing might give us a headsup what might be coming, but also it's already written into our children's genes and I cant change that. He'll be the same little boy before and after the result. But it's also easy to say that when I haven't had any news yet and I've had a long time to think about what the test might show.

Of course I can keep you updated. My son has an appointment coming Up with ENT so I'll ask about the result (if its back yet) than x

Hi ottooctopus

How are you guys doing, have you had any news or updates yet?

Hope you are all doing well. No news or updates from our end yet unfortunately... x

Hi jerseymum

Yes, we had our sons results back in early June which was nearly 11 months after the blood was taken for testing. 

It showed an autosomal recessive mutation on one of the genes that has caused his reduced hearing level, and the mutation also spanned onto an adjacent gene which codes for something completely different which was unexpected

My husband and I have now been referred for genetic counselling however as it is likely that we each have one faulty copy of the gene, we are unsure whether having the blood test will actually be of any benefit for us. So we'll wait to meet with the team. 

Have you heard anything back yet? 

hope the wait isn't too anxious for you x

Hi,

Hope you have had an update by now. 

Our son is due to have blood taken for genetic testing in a couple of weeks. The paediatrician said the results are usually back within 3 months. This seems a lot quicker than other peoples experiences. I think they are being sent to Oxford then on to GOSH for analysi. 

It would be helpful to hear from anyone else who has gone through testing recently.

Hi Jerseymum, did you get your little ones results back? Hopefully you're not still waiting xx

Hi new mum

sorry for the late reply. I really hope you do get your results so quickly but my experiences with both my children is that in reality the wait is much longer. I was told to expect a wait of several weeks back in March, now several months later we still have no results. It's very frustrating as it gives us parents completely unrealistic expectations. My understanding is that our bloods were sent to Southampton and then on to Cardiff but I'm not 100% sure. Hopefully Oxford and GOSH are a bit more efficient xx

Thank you for replying and sorry to hear that. It's so frustrating that parents are given inacurate timeframes given the potential significance of the results. I hope you receive yours soon. I'll post on here when I receive ours incase it helps others to get an idea of the timeframe. 

Oh gosh I'm so sorry you're still waiting. that's so frustrating to have the goal posts moved over and over. As we were told 6-9 months I wasnt too surprised when it was nearly 11. I think ours went to southampton too so perhaps you won't have to wait too much longer! 🤞

Youre right in saying we were mostly relieved by the results for our son. The cause of the deafness is non-syndromic but because the mutation extends onto the next gene our son has another problem which will become more of an issue when he's older. Fortunately whilst it will affect his life it's not disabling, so we'll just deal with that hurdle when we get there. 

I really hope that there wont be much longer to wait for your results, and I hope they are give you some answes and peace of mind when they come back. 

Here if you need to vent or chat xx