Hi all.
One of the things that have been on our minds for the last six months since we found out about our little one is the possibility that she will be blind.
From the out set we’ve always said that it wouldn’t make any difference to us and it wouldn’t. This still doesn’t stop me especially being concerned.
With that in mind I’ve been doing quite a bit of reading on the condition that I have. It’s called Leber's congenital amaurosis. Click here to find out more.
Put simply, Therese a bunch of cells at the back of the eye which receive what the eye sees. In my eyes these cells weren’t formed properly. So there are not enough of them which do work to give me the full picture from the eye.
This is a genetic disorder. Trying to remember back to my biology lessons at school this is what I have found out and remembered.
For our little one to have Leber's congenital amaurosis, LCA, both Gem and I would have to be carriers of the gene it’s been linked to. As I have LCA I’m a carrier which is pretty unusual. I can’t remember where I read it but I read somewhere that only about 1 in 50000 carries this gene defect so the likelihood that Gem has the defect is very small. Remember you can be a carrier of the gene with out any signs. This is because the gene is a recessive gene.
This is where I start remembering back to my biology classes at school. A baby has 2 sets of genes, one from the Mum, one from the Dad. If there is a dominant gene and a recessive gene then the baby will have the dominant one.
The Gene responsible for LCA is a recessive gene.
Because I have LCA I am also a carrier of the Gene.
In the incredibly small chance that Gem Has the gene there is a 1 in 4 chance that our little one will have LCA.
This makes the possibility incredibly small but I still worry.
Blind people in today’s society have so many more opportunities than ever before. But I still wouldn’t want our little one to have LCA. Like every parent I want her to be perfect.
The end result to all this is that we’ll have to have the little one tested I think.
A couple of months ago I blogged about weather I’d have a cure or not. In that post I made the statement that there isn’t a cure so it’s all a theoretical discussion. That statement isn’t quite true. Take a look at this article from the fantastic BBC Ouch website. It now looks like a cure isn’t so far away.
Any way, I’d better get back to work as I’m posting this on my lunch break.
Take care.
Nick.