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…?
You are absolutely right, can’t live with or without these genes which have many important functions in our body.
I really do hope that someday we will be able to knock out the bad genes and replace them with the normal ones so that individuals won’t have to suffer.
Thanks for sharing your views.