I genuinely have, like I have faith that that will be the outcome for C9orf72. Yeah, I feel quite, I feel quite… I just, I can’t believe that they’d be where they are today in 2021 and by 2041 they haven’t, with all the other technologies and things that are already starting to emerge will probably… it won’t be what they’re working on now that is the cure, it’ll be something that comes to fruition in the next few years.

But what I hope for now is that there’s some positivity and it does something, whether it just slows it down, but it can help those because I’ve got 20 years but there are all those many thousands of people that are living it today, tomorrow, next year. So I feel fairly privileged in that, in my position that I’ve got time on my side, and I really feel like – and I don’t know if these are probably more my husband’s words, but like he said, he said it to me today because obviously with this coming up, yours and my chat, like we were talking about it over lunch and like he was like, “All we need is time” He, “I’m confident that if we’ve got enough time there will be a cure by the time you need it”, basically.

We’re not done with our family, we’re not. It’s something I feel incredibly passionate about; I don’t want my son to grow up as an only child, particularly knowing what we know about me, right? Like I don’t want him to be on his own going through something like that if that is to be my fate and I want him to have the support that I’ve had of my sisters, which oh, is just like nothing else really.

So I feel very strongly I want to have a second child. We, [husband] and I, [husband’s], my husband’s eldest of four and I’m youngest of three; it’s a, we always thought we’d have a big family. We kind of both had three in our heads and this has completely changed our, you know, we’d just be really, really grateful for another one. I know it seems selfish maybe to some that, you know, we’ve already got one and maybe be happy but I don’t know, growing up with siblings, like those, those relationships are, are just special. They’re important in so many ways in you know, from the fights you have to the beautiful moments you have, I think all of it is shaping you as an individual and I want that for my son.

We’ve gone through one round of IVF and it didn’t work. We didn’t even get to getting it to the lab to be tested for the genetics; everything kind of fell apart on day three of the IVF process, so. That was a pretty devastating blow because we went into it naively thinking we’re two fertile people, I got pregnant with our son within three months of trying, no issues, and we sort of thought we’re ticking boxes here, we’re just making sure that we rule out that gene. I really, really thought it was going to work. I didn’t think we – I thought we’d breeze through it and really, really naively. And we’re about to go through our second round, I’m just waiting, crudely, for my period – not crudely – but basically we’ll be starting in the next week. And I have a healthy dose of realism attached to our next go at it. What is also very difficult, and I understand they are trying to change it, but this is costing us about £12,000 each time we do it because we have our son and we are not eligible for NHS funding.
 
We don’t know whether our son has the mutated gene or not, because it’s not ethical to test him. But that we thought was in our favour for still getting funding because we don’t know, we can’t rule it out, we can’t say that he doesn’t. It is something I understand they are trying to change because they see the unique circumstances that people are in, but it wasn’t something we were going to wait for. I was even told that there’s a bill waiting to be heard but we were like, you know… I’ll be 36 later this year, my husband’s a little bit younger than me, he’s 32, and I just feel I don’t want to wait much longer for our second child.
 
So we have been fortunate enough to financially be able to do it. We have family that very much want to help us, which is great. But it’s an added sting I suppose in all of this, but yeah, and particularly if it comes out with nothing. We’ll see, we’ll see, I’m trying to go into this with some positivity. I’m normally a very positive person but I was fairly determined after the last round that I would never go through that again. It was, the emotional toil was like nothing else, it was awful. It’s quite barbaric really [laughs]. But here we are, we are going to go through it again.
 
I don’t think we would do a third round. Our eyes have been really opened to just the complete randomness of IVF and two people that all their fertility figures are tip top and fine to go, to have the outcome we had on the last round… I mean all the doctors were really like… no-one saw that coming. And the amount of eggs that they got from the egg collection and the amount that fertilised, all of it was really positive and everything stopped on day three and it was just… what we were told was just really bad luck. And the majority, I think they said like 80% of people that had the picture that we had on day three go on to have at least two embryos at the end to then go to the lab to get tested.
 
So that was, yeah… time’s a great healer. As I say, when we found out there was nothing, I was fairly broken and didn’t think I could emotionally go through that again, not to mention the discomfort and the pain of stabbing yourself every day for ten days and then the discomfort of the egg collection… I’ve counted the hurdles between like now and getting to potentially a baby, or a transfer back and there’s like 11 solid crappy hurdles to get over [laughs]. And it’s just all so random and pot luck and it just – which is galling and it makes you angry. But trying to be positive because mental attitude is really important [laughs]. But IVF right now is our chosen way forward. There will be conversations if this doesn’t work.

So, as we know it there are three options to us: we can just go naturally and just forget about all of this and the child can get tested when they’re 18 and you know, fingers crossed; we can go naturally and at 12 to 13 weeks have an amnio-whatever test and they’ll test the fetus at that point. My understanding is that you are pretty much committing to an abortion if the test is positive; and then the third option is to go through IVF and PGT.

Having had our son, having the test at 12/13 weeks pregnant and then having to terminate is not something either of us feel we can do. I’ve having carried a child I, and the connection I felt to him by that point, I don’t think I could – particularly because you go back to their future, is just going – I know it will be so different to my mum’s experience. So, it’s just not, it’s not black and white and it’s – and it’s so much harder because it’s not – to make the decision.

I know that there’s parts of my family that think we’re nuts doing what we’re doing, and we should just have a baby and get on with it and not worry about it and what will be will be a bit. But everyone is being supportive vocally and, and this felt like the only option for us; we had to try, we both felt we just had to try and do the right thing.

When I thought about it… I remember feeling more frustrated because I was like “She told me six weeks”. And then when you’re told that, that’s what you fixate on. So I forgot about it until that six weeks, I was like, “There’s no point thinking about it”.

Then the six weeks came, and then you’re on edge and you’re nervous because you want to know because it has such a huge impact on your, on your ongoing life and you’re so hopeful that you’re going to be, it’s, you’re hopeful it’ll be negative and that you can move on and put it behind you. Remember through all of this time, this was the July of ’19, mum was just getting worse and mum died and then I’m grieving and then yeah…

So yeah, I think the time, that three months was, there was frustration when, and then I couldn’t get hold of anyone because getting hold of anyone in the NHS is really difficult.  And you know, you’d hear back a few days later after you’d tried to find out and that’s, you know, “Oh, no, they’re still in the lab, they’re still testing”, and you’re like, [sighs] “Okay”.

So it was – I’m probably dulling it down because, you know, your mind does a wonderful thing of softening things but I, there was nerves and anticipation and apprehension at the inevitability. You know, we’d started something and we had to find out the answer, and although I wanted the answer because I wanted to know, I almost didn’t want the answer because you don’t, you know; ignorance is bliss, right [laughs]?