Genetic testing

[Rosie1984]

7 months ago I had a gorgeous baby boy. Unfortunately he was born blind. Since his birth we have discovered that this is due to a condition he has inherited from his father. We would love to have more children in the future but not if this is something that will likely happen again. Has anyone gone through genetic testing to find which genes have caused a rare disease? If so how long does the process take? We have an appointment in Manchester next month and I am curious as to how long it will take them to hopefully find the gene which has caused this.

Hi Rosie

I'm sorry for your son's problems. But being born blind, he may cope much better than you think as his other senses have much more chance to step in and help out.

As for how long the test takes, it depends. Has dad had genetic testing himself? Does the condition have a name?

If dad has been tested and they know what gene it is, testing shouldn't take too long (probably a few weeks). If your DS is the first family member to be tested, it could take much longer since the lab won't necessarily know what faulty gene to look for. If it's a named condition, it's more likely that they will find something more easily.

The worst case scenario is that you have a 1 in 2 chance of it happening again in another baby. Depending on the specific condition and what the gene test shows, it may very well be much less than that. And if the gene test identifies the faulty gene, then I'm fairly sure prenatal testing would be an option in a future pregnancy (if that was something you wanted to do - nobody could force you if you didn't).

Hope that helps at least a little bit.
Take care x

Thank you for the reply.
He has anterior segment dysgenesis, with glaucoma. His father had some clouding of his corneas when he was born but after after a few weeks it cleared up and his parents never thought anything of it again. It wasn't until our son was born that we started to ask questions. So he hasn't had genetic testing himself.
Apart from his eyes he's doing great, and I know there's so many things they can do these days so I haven't given up hope on his vision just yet. I just always imagined having lots of children so it's sad to think he could possibly be our only one.