I first found out about Kennedy’s Disease when I was around six to seven months pregnant with my son, who is now four. It was obviously a very hard thing to hear, particularly given I found out because my father was diagnosed.

Up until that point I had been very fortunate and I’d had a very good pregnancy, everything had gone normally, our son had hit all the benchmarks… So, it was a big shock for us to find out that there is a 50 percent chance that he could have this disease and to know to a certain extent that his life was possibly being curtailed before he was even born. For a mother, that’s hard to hear – you know, you’re growing your baby, you’re trying to protect them, and yet already there’s something you might not be able to protect them from.

I needed to feel a sense of control, so I wanted to know more information. We went to a specialist, who told us a bit about it and who advised strongly against us testing our son at that time, while he was in the womb, to find out whether or not he had the gene. Even though she advised this, partly because she said that it’s important maybe that he has the choice himself as to whether or not he wants to test when he’s older, I myself really, really wanted to do it. I knew I could probably try and push to get these answers but I just really felt I needed that sense of control and to know the information so I could then make a decision, plan for the best for my son. We thought about it for quite a long time and I found out that as more time went on, and I began to process the information, that my thoughts around that changed as well.

It’s occurred to me that, if we did find out he had the gene, we would have to live with that. We probably wouldn’t want to tell him, particularly when he is young, so if he had it then we might end up feeling like we were lying to him for years. We might make, unknowingly, decisions about his life that otherwise we might not make. We would take away that choice so if, when he was older, he didn’t want to know then that would no longer be feasible. It might stop him from doing certain things that he wanted to do so, with that in mind, we decided to wait and at least reconsider it after he was born.

When he was born, he was perfect, the most perfect child you can imagine – energetic, physical, out there, you know happy, an absolute brilliant, amazing child… And, to be honest, all of the feelings that we had, all the worries and concerns that we had around Kennedy’s Disease, sort of disappeared. We weren’t thinking about them. We had a newborn child, you know everything was amazing, and the most perfect child you could imagine.

And, to be honest, we don’t think about it all anymore. I contextualise a little bit now, as well. We’ve had other family medical concerns, other things come up, but I kind of realise now that everyone has medical issues. No one has a family history that doesn’t, you know, have some degree of medical problem and risk associated with that. And just being a mother day after day, Kennedy’s never really touches my thoughts at all. In fact, I probably haven’t thought about it at all this year apart from right now, so the idea of testing him now just doesn’t seem necessary. But also, I think, because of that we do want to give him the option when he is older to make that choice himself.

So, yeah, my reasons have changed. I also think it would be great if when he does find out we can say “look there’s a cure, this is not a certainty but if you have this, a big if obviously, then you know there’s things that can be done to mitigate it or maybe even cure it”.

As for whether or not we will or when we will tell him, I don’t think it is something we want to do soon. We don’t want to lie to him, say if he asks about it I don’t think we wouldn’t tell him the truth, but equally we won’t be presenting the information either. I don’t want to tell him in his teenage years. I’d rather wait maybe until I feel he’s mature enough to understand and process it. Maybe mid-twenties but we’ll see. But it would be brilliant obviously if, as I say, we could come to him with positive information about there being a cure or something that he can take to mitigate it if he does have it.

So that’s where we are right now, it’s obviously never easy but I think we’ve come to terms with the situation as a family and I suppose the best thing I can say about the whole process that we’ve gone through is that, actually, it doesn’t feel that bad anymore. It doesn’t feel like a big deal. You know, we’ve got the most beautiful son who I’m convinced is going to have a wonderful, amazing life and, sure, this might be a challenge that he has to face but I don’t think it will be an insurmountable one.