Harriet

Age at interview: 35

Brief Outline:

Harriet is 35 and works part time as a project manager. She is married with one child, who is two.

When Harriet’s mum and aunt were diagnosed with MND, she had pre-symptomatic genetic testing to inform decisions over having another child. She was told she carries the C9orf72 gene variant and is currently undergoing pre-implantation genetic testing.

More about me...

Harriet’s mum was diagnosed with MND in 2017, after experiencing problems with her foot. Her condition progressed over the next two years, and she eventually lost her mobility and speech. A couple of months after the diagnosis, Harriet’s aunt developed a bulbar form of the disease. The family realised straight away that there was likely to be a genetic link. They had genetic testing and it was discovered that they carried the C9orf72 gene variant. Harriet, her husband and their son moved in with her parents over her maternity leave, and she helped care for her mum. Whilst being able to support them was a “privilege”, there were also parts that were difficult. Harriet lost her mum and aunt within 6 weeks of each other. Other relatives have been affected by neurological disorders, which the family now consider as likely to have been caused by this gene variant. This includes Harriet’s grandmother who was diagnosed with Parkinsonism.

Harriet and her husband had recently had their first child when they found out about inherited MND in the family. Although she did not really dwell on the implications for herself, as her focus was on her mum, she decided that she needed to find out her genetic status in order to progress with her family; wanting a second child, taking the test was a “no brainer”. Harriet went to see her mum’s neurologist, who was satisfied that she had considered the decision. Harriet had the blood test that day. She was told that the results would take 6 weeks, but waited for 3 months. Harriet’s cousin Georgia Z has since received a negative result. This came back within 6 weeks, and was given over the phone. Harriet believes the testing process should be the same for everyone, regardless of the result.

On receiving her results, Harriet was told that she carries the C9orf72 gene variant. She felt empty and disappointed, and “life became difficult straightaway”. She and her husband did not want their future child to go through the decisions and discussions they themselves were facing. After further research, they decided to proceed with pre-implantation genetic testing (PGT). This uses a process of IVF to ensure that only embryos that are not carrying the gene variant are implanted. 

Although Harriet was optimistic, as she and her husband conceived quickly when having their first child, the IVF failed. This was “devastating”, and Harriet felt at the time that she could not go through the emotional and physical toil again. Harriet has since been through a second round of IVF, which again was unsuccessful. She describes how something that was joyful and easy became clinical, painful and difficult. There was an added financial burden as having had one child, they were not eligible for this treatment on the NHS. They have since decided to try for another child without additional testing, following research into therapies targeting the C9orf72 gene variant. They are more confident than ever that there will be a cure through genetic editing therapies to prevent the gene expressing itself, especially in their children. 

Although there are moments where she worries about the future, particularly when she drops something or trips over, Harriet feels at peace with her test result. She tries to maintain a healthy lifestyle, which she believes is important in staying well, and emphasises enjoying the life she has now. 

Although it’s a “nasty” way to go, Harriet remembers how her mum was able to have a good life and death with MND. Most of the time she feels “if that’s my fate, that’s my fate”.

My best mate’s a GP and she’s convinced that I’m not dealing with this properly [laughs]. And she’s convinced that I need to see a counsellor and I’m like, “Why do you say that?” she’s like, “Because you’re fine”, and I was like, “But why wouldn’t I be fine?” because rationally I do feel fine about this. Yes, I have the odd little like - but it’s not like I then sit for the, you know, I dropped something two days ago, it flashes, it doesn’t linger for any great length of time, and it’s certainly not debilitating so emotionally. So I do feel completely equipped to deal with life [laughs]. And I can see, I can see that possibly changing as I get nearer to my 60s and things aren’t moving as well as I thought they were going to move [laughs]. And I might fear for myself a little bit.  But I have a fantastic role model in how my mother dealt with this disease and I will, if that’s my fate, that’s my fate.

I do, there is a certain feeling of, you know… oh, I do not mean to sound cavalier at all about it, but we all do have to die of something and it’s, yes, this is a particularly nasty way of going but we were all able to tell her how much we loved her and she got to see a lot in that two years and wasn’t in pain. You know that’s… illnesses can have such dreadful pain with them and that’s a small blessing I think of MND. I, you don’t hear much about people having pain with it. So - maybe discomfort, sure, but it’s, yeah, I think that’s a small blessing to it.

Harriet saw the consultant and had her bloods taken the same day for genetic testing. She felt a bit “blindsided” it was so quick, but relieved because she was sure of her decision.

But yeah, so it was just a conversation with the consultant, and she just asked us why and seemed satisfied. I was told to go down the hall and took my bloods and we went home.

So how did you feel about that being the process?

I was a little blindsided. I wasn’t expecting bloods to be taken that day, I was expecting to have to come back again. I was a bit relieved, I was like, “Well, you know, it gets it done, we are sure about this”. I mean having the blood test I did kind of feel a bit, “Okay, right, that’s happening now”, like, you know, that we’re finding out.

After being told her pre-symptomatic genetic test results would take 6 weeks, Harriet put it out of her mind. She was frustrated by further delays and felt nervous and on edge.

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]?

The appointment itself is fuzzy, but Harriet felt disappointed and empty. Her pre-symptomatic genetic test results “changed the future” and impacted her immediate hopes of having another child.

I mean we were nervous, we were both sat in the hallway waiting and twitchy, and I bite my nails so they were gone [laughs]. And then it was pretty short, it was under half an hour. It was … I cried… [husband] asked questions, [husband] cried, my husband was emotional. It changed the future and the immediate future. Life became difficult straightway, which was disappointing.
 
… it’s a bit fuzzy, if I’m honest, I can’t really remember entirely the, I can’t remember the conversation really, but it was disappointing… Felt pretty empty walking away from there, but.
 
Did she give you any details or did you have questions you wanted answered?
 
Our questions were around… kids, and [husband] - my husband - asked questions… My brain went to, “Oh my god, I’m going to get motor neurone disease and I’m going to go through everything my mum has just gone through”; my brain kind of jumped a few decades and was sort of turning that over quite a lot.

 

Harriet explains the reproductive options available where a gene associated with inherited MND has been identified in the family, and why she has chosen to try pre-implantation genetic testing.

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.

Having a second child is something that Harriet and her husband feel strongly about. Knowing that she carries the C9orf72 genetic variant, they want their son to have the support of a sibling.

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.

Harriet describes the physical, emotional and financial strain of going through Pre-Implantation Genetic Testing with IVF. After the first attempt failed, she wasn’t sure she could do it again, but decided to try one more round.

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.

 

Making decisions over expanding their family has been difficult for Harriet and her husband, given the uncertainty of whether a future child would develop MND and the possibility of research progress.

I don’t know what we’ll do if it doesn’t work. It’s tricky, it’s tricky. The reason I think it’s tricky is because it is a, something that 50/50 may or may not happen, may or may not pass on rather, and beyond that it’s, you know, it’s - okay, I’ve been told it’s likely to express itself, but there’s that small bit that’s not, it’s a possibility, and we’re talking about something that doesn’t affect an individual until they are in their 60s or beyond. So - and on top of all of that, there are targeted therapies that are happening right now in trials on my specific mutation, which is amazing. So I’m not hugely worried for my future because of, because of that, and what they are doing and what could still happen in the next 20 years. And I don’t, in that respect if my son does carry the gene, I don’t, I’m really not worried for his future.

I think a big part of us wanting to stop it and by going through the IVF for PGT is so they don’t, they don’t have to go through what we’re having to go through. Because what you don’t want is you don’t want this to just be passed down and down, where we can stop it.  But for the sake of not having another child because of it, I don’t know, I don’t know. So I don’t know what will happen if this doesn’t work, but it’s conversation for us to have and get our heads round.

Harriet has faith that treatments will be developed to slow progression in inherited forms of MND and is confident that eventually there will be a cure.

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.