Genes: Can’t live with them, can’t live without them….

We all have them; they make us unique, but we also share parts of our uniqueness with our children. A long time ago with very dodgy methodology, Alice’s Daddy and I came to the conclusion that having two ANSD children was our 1:10,000,000 moment. We’d prefer winning the euromillions but hey ho…..

So little Ollie was our defining moment and we decided to actually see if we could answer the final piece of the puzzle. Over 60 genes have been identified (so far) as causing deafness and over 40% of kids with ANSD (most commonly Otoferlin or Pejvakin mutations) have a genetic cause. The numbers increase almost daily, but still a large proportion of clearly genetic conditions haven’t yet been discovered. So in the interests of science and family we wanted to get our genes checked.

To get your genes tested you have to be referred to the genetics consultant in your region. He’s usually friendly and has a caring manner ( think of the number of awful conversations he must have to have). He’s a Jack of all genetics and clearly not a master of deafness, but hopefully he is one page ahead of you in the textbook. Hopefully.

The NHS doesn’t do testing for ANSD. The NHS doesn’t know where to do it and doesn’t like spending money.

The deaf community needs to help each other, so we blagged the contact details of a lady in France who can. How ridiculous is the system where parents know more than doctors?

Ollie’s blood was taken in October. In December we were told that not enough had been taken (red blood cells contain no DNA, so the vast majority of the blood sample is useless) in April. Alice donated 5ml during her last surgery and since then we have waited.

Last week we were invited in to see the Genetics Consultant and dared to dream of closure……But no…mis-filed forms, lack of family connection between the two Campbell ANSD tests and………wait for it……… Alice’s blood is still sitting in Tooting. So thanks – that’s rubbish, bureaucratic, lack of cohesive thought, rubbish…..thank God Ollie’s surgery wasn’t waiting on it.

But here’s the rub. If the cause of ANSD is genetic (err yes….) you know your child won’t grow out of it; they are stuck with it for life. Implanting at one instead of two becomes appropriate; it saves thousands of pounds in pointless audiology appointments and testing and gets good sound into our children earlier, leading to better implant outcomes.

So come on the NHS: Spend the money, get your proverbial arse in gear and start testing the ‘well ANSD babies’ like Ollie and Alice. While you’re at it, could you deliver a vial to France, otherwise I’m on a day trip…?

Let the Countdown Commence…

So we have a date in about 8 weeks time. There are few words to sum up how we feel but generally it’s ‘sh1t’ – on so many levels…. and even between the two of us (and of course anyone who has met us knows we agree on everything………..well publicly at least).

I’m not usually potty-mouthed or a writer of profanity, so why that particularly word? Any parent who has been down our path will understand, but for the rest of the world, here goes:

Ollie doesn’t have to have the surgery. His life will be different, but he could grow up in a world without sound and we could sign and in many ways it would be a rich and fulfilling life. This was the only choice open to parents like us decades ago. Make the best of what you have and do your best. In that sense, the surgery is optional. It is not a life-threatening condition, merely a life-altering condition. But we want him to hear. We want to approximate the life we thought he was going to get.

Ollie doesn’t have to have the surgery now. Alice was two when she got her first implant and I think we could all agree that she has certainly made a success of it. At two you have a much more developed brain and a better understanding of the world. But current research shows that progress with a cochlear implant is a bell curve (and as a good statistician I know) you can have outliers, you can have fairly fat curves but those implanted before one have the best outcomes. At one Ollie will have less of a speech and language delay; his brain will still be elastic enough to mold itself to aural not to visual language and frankly a one year gap is easier than a two year gap; the smaller the gap the less hard we have to work.

It’s a big operation. He’s tiny – well not for an nine-month-old, but nine-month-old babies are still small. He’s around 8kg and his tiny head is still small enough to sit in my hands. He can’t look after himself and won’t understand why he can’t eat, why there’s a big bandage, why he’s wobbly and being sick. We can’t imagine waving our little boy away for anywhere between five and eight hour’s of surgery and praying that it all works out. We don’t like leaving him for a second; seven hours (probably with going under, testing and recovery) is far too long not to hold him and know he’s safe. I can not imagine how we will fill the time without him. I think it boils down to this. We know surgery is the right option and the right thing to do. We know he will benefit from it and it will open up the world to him. I just wish it happened yesterday, so that I don’t have to deal with it.


Let’s all wish him well. We know his big sister will be holding his hand through it all……

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