Tom’s response to his genetic diagnosis

So once we settled in Exeter we had a very good relationship with Professor Hattersley. And he contacted us to let us know that there was a potential for a diagnosis, and that they felt that they had discovered a genetic root cause, if you like, for my syndrome.

Originally, I didn’t really know what to feel about this, because obviously, we’d been sort of shuttled back and forth from doctors for much of my life, really. And nobody’s ever really given any convincing argument or convincing case for, first of all, what this condition was, what it was named, what it meant for me in the future, was there any cure as such, or treatment plan for this condition? And then out of the blue, we heard this, oh, yeah, so you’ve got this. There it is. We don’t really know anything about it yet, other than the name. And there are a couple of other people that have it.

And that was the interesting thing for me, is that, on a day-to-day basis in my life, a diagnosis means absolutely nothing to me, because I’ve never been somebody who lives by labels. And it’s not something that, as I say, has an effect whether I have this syndrome or another syndrome on a day-to-day basis has no effect. It’s more about the treatment, and what, perhaps, this diagnosis may mean for me in terms of ongoing care, ongoing maintenance, what could potentially be around the corner. And at the same time, all of a sudden, there are now people like me, even if I never meet any of them, ever.

Obviously, I would like to. I have no idea if they would like to meet me. But if I never meet any of them ever– and we never have any sort of interaction or contact– obviously, again, it’s not really going to change my life either way. But just knowing that there are other people out there, and that we share this genetic root cause, if you like, is quite– I wouldn’t say it’s comforting– but it’s quite reassuring to know that they are out there. There are people who potentially may be struggling with many of the issues I do. And more importantly, that gives you a tremendous body of information and a body of knowledge.

And it may be that, in future, as relations develop, we might be able to say, well, hang on, I’ve got very sore feet. Do you have sore feet? And they might say, someone in Venezuela– I think there’s someone in Venezuela– might say, yes, actually, I do have sore feet. And I go, what do you do for your sore feet? And it may be that he’s discovered, I don’t know, calcium tablets, or some bizarre, completely inconsequential trick or hack. And that’s the term that they use nowadays, isn’t it– life hack– some life hack that he’s discovered that actually helps him manage that aspect of his condition.

And then I might try it and go, actually, because we’ve got the same genetic root cause– we have essentially the same condition– that improves my life. And then maybe you can pass it on to someone else. And before you know it, all of the little tribe, if you like, have shared their knowledge and essentially benefited as a whole from simply just knowing that there are other people out there with this condition.

In terms of my parents’ reaction to the diagnosis, I think theirs is quite similar to mine, in that it had less of an effect, simply because they were more interested in my treatment and ongoing care rather than an actual diagnosis or a label or a specific name for the condition. Of course, they were very pleased to have this diagnosis, so that we knew more about it. We had a name. So of course, the moment you name something, it means that now you can actually start investigating it, and researching it, and perhaps learning more about this condition, which obviously in future is going to, hopefully, benefit me a great deal.

But on a day-to-day basis, they were, like, good, there’s a name. There are other people– interesting. But that’s as far as it went, really. I do remember that Professor Hattersley was given permission to send me some photos of other people with the condition, which is very interesting, because we all look really, really similar. We’re like clones. And I certainly notice a similarity. But it was really underlined when my dad saw some of the pictures. And at first glance, he thought the picture of one of the chaps was actually me. And he didn’t realise that it was some chap in– I think he’s the Venezuelan patient, again. He didn’t realise that it was the Venezuelan patient. It wasn’t me.

And that’s what underlined the incredible similarities between us as a group of people. And I think that had more impact, really, on their understanding of the diagnosis than the actual diagnosis itself, because it really underlined, to them, they hadn’t done anything wrong as such. And the condition wasn’t caused by them or by their genome. They were in no way responsible for what’s essentially a spontaneous mutation. And seeing these other people who all are, if you like, struggling with the same issues I have, but living very happy, productive lives as far as you know– and I think in particular, I think that two of the patients are quite advanced in years now.

So it’s reassuring for my parents, more than probably it is for me, that we can live long, productive, healthy lives. And we’re not going to keel over at 40 or anything like that. Which whilst they would never, and they never expressed this concern to me, of course, it’s always been an underlying fear, is if you have something– you have the condition that people know nothing about, then obviously, you always tend to fear the worst. And just knowing that they’re out there, and they’re happy, and they’re healthy, and they’re still, at 65, getting on with their lives, then that’s obviously reassuring for them.