The Missing Code

Before Alfie was even born, well, actually before I even fell pregnant, I was aware of a genetic ‘flaw’ that I could potentially be carrying. I tried to never let this bother me, I knew it wouldn’t change the fact that one day I wanted children, and decided long ago that I’d simply deal with it as it happened. There was lots of deafness in my family, closest to me was my Uncle Colin, my mum’s older brother. I’d never known him any different so grew up knowing how to communicate with him, key skills such as how to get his attention, how to speak clearly to him and even learnt to finger spell the alphabet when I was still at primary school. He wore a hearing aid, went to deaf clubs, and led a relatively normal life. I knew that there was a chance that if I had a baby boy, he would also be deaf and although I didn’t understand exactly why, I wasn’t desperately concerned to find out.

Alfie and his Great Uncle Colin

When we had our scan at 16 weeks and found out we were expecting a boy, my first thought wasn’t at all about the fact he could be born being unable to hear. I looked to my husband, and honestly, he was giving the Cheshire Cat a run for his money. He was so pleased we were having a boy, and in all honesty, so I was I. I think somewhere inside me I wanted a little girl, but as soon as the information sunk in, we were absolutely chuffed.

We mentioned to our midwife about the genetic link that could affect him, and she didn’t seem concerned. There was nothing we could do to find out before hand without some pretty invasive testing, so we decided to just let it be and roll with the waves when he was here. The main focus was growing a healthy, kicking, screaming, eating and pooping machine, so that’s what I did.

Now, I don’t do many things well, but I’m pretty damn sure that I’m awesome at growing human beings. Out he came, perfect little being. We quickly found out he was deaf, and had his hearing aids by 7 weeks old. (You can read that bit in more detailĀ over here.)

Fast forward just over a year after he was born, in May 2017 we were invited to meet a consultant geneticist in Southampton Hospital to talk through what we thought was the cause and both Alfie and I had blood samples taken for tests. After all, being able to prove this genetic flaw would put our minds at rest that there was no other underlying problems to worry about.

The geneticist was a wonderfully lovely and gentle lady who welcomed us with open arms, and as Alfie acquainted himself with her office, mostly pulling bins over and trying to set off fire extinguishers, she began to explain that she’d made a list of things to possibly check for that could cause deafness. She was a bit taken-back when I pulled out a research paper that my Mum had sent me, which detailed an investigation into my family, starting with one of my Great Uncles (who was deaf). The paper outlined our family tree, and detailed the genetic trail all the way down to my Mum, Uncle and Auntie. It also described the EXACT location of the genetic deletion, which essentially, just made the consultant’s job a heck of a lot easier. All she had to do now is check that both mine and Alfie’s blood samples showed the same deletion.

A few weeks later, the results came back confirming that both Alfie and me have a deletion in a piece of our genetic coding, specifically, the POU3F4 gene which causes hearing loss. In short, it means that if I have more children in the future, and have another boy, there is a 50% chance he will also be deaf. If I were to have a girl, there is a 50% chance she will carry this gene too, and could pass it down to her children. Of my two ‘X’ chromosomes, only one of them has this genetic deletion, which is why it’s only a 50/50 chance. IĀ could pass down the good one, but obviously I have no control over that!

We feel it’s a blessing to be able to explain why Alfie has a hearing loss, as many families never know ‘why’, or ever know what caused it, it can come completely out the blue with no prior family history at all. Although it’ll always be a shock to anyone coming to terms with the fact their baby has a ‘disability’, being able to prepare yourself emotionally before hand makes it much easier to deal with some of the barriers that you’ll face in those first few years of their lives.

So. Alfie has a

“Congenital X-Linked sensorineural and conductive bilateral loss”

which is pretty wordy, right? Here’s the break down…

Congenital: This means it’s something that was coded into his DNA from the second he was created. It’s nothing I did in pregnancy, nothing happened to him, he didn’t have an accident, it’s simply how he was made.

X-Linked: The gene that causes Alfie’s deafness only affects males. Looking at my family tree and starting at my great grandparents’ children, there have been 7 males born with the same deafness spanning every generation so far. Females carry this gene, too, but are not affected by it.

Sensorineural: This means there’s a problem with his inner ear. This could be either his cochlea or his auditory nerve, we’re not sure yet.

Conductive: This means there’s a problem with his middle ear, and the little bones which help conduct sound through to the inner ear.

Bilateral: Quite simply, this means it’s in both ears.

So there we are. Alfie’s hearing loss is a genetic problem with his inner ear and his middle ear.

Alfie’s hearing will not (as far as we know) improve, and we have a long way to go on his journey. One thing we both want for Alfie is for him to be able to talk loudly and proudly of his hearing loss, and be able to explain it to people in a way they will understand. People always ask questions, it’s part of human curiosity, so instead of Alfie taking offence to the stares and not knowing what to say when people ask “why?”, he and the people around him (you guys!) can explain nice and simply the what, why and how with ease.

 

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