Anthony

Age at interview: 45

Brief Outline:

Anthony is 45 and works as a partner in an equine business. He is married and has three children who are 10, 7 and 4. Ethnicity: white British.

Anthony decided to have pre-symptomatic genetic testing after finding out about the C9orf72 gene variant in his family. He received a positive result, but tries to stay positive by following research developments around MND and taking part in studies.

More about me...

Anthony’s mother was diagnosed with MND after having problems with her ankles, which continued after an operation and physiotherapy. When she was diagnosed, Anthony discovered that her brother had also died of MND, and the consultant discussed the possibility that it could be an inherited form. Following a discussion with her family, she had a genetic test and was told that she had the C9orf72 gene variant. Anthony was glad that a gene had been identified, and that he had the option of having genetic testing himself. Anthony’s mum died in 2018, a year after her diagnosis. Anthony now knows that his grandmother’s death from frontotemporal dementia is also likely to be linked to the C9orf72 gene.

Anthony and his wife discussed pre-symptomatic genetic testing, and he decided that he wanted to have the test. He felt that it was better to know than to live with the uncertainty of whether he carried the gene variant and the ongoing possibility of testing. He emphasised that knowing meant he could “do something about it”, including making the most of life, and participating in research. Anthony also wanted to find out whether his children could have inherited the genetic variant, so he could plan how to share information with them in the future.

Before taking the test, Anthony had genetic counselling. The process took longer than he expected, but he understands that counsellors have to make sure that being tested is the right decision. A few weeks after having the blood test, Anthony unfortunately received a positive result. He was initially concerned for his wife, who was very upset, and for his mother, who was sad that she had potentially passed on the disease. Although he felt “deflated”, Anthony tried to keep in mind the reasons why he had the test.

Anthony appreciates the ongoing support from his genetic counsellor, who called a few weeks after he received his result, and again after a year. Anthony and his wife plan to tell their children about the family history of inherited MND, though they feel their youngest needs to be a little older in order to understand it and handle it emotionally. They are planning to seek support from their genetic counsellor when the time comes. 

Although it is difficult to think that he or his cousins may be affected in the future, Anthony tries to live in the present and focus on the positive developments in research, which he follows online. He emphasises making the most of life and tries to plan new experiences every year, such as skydiving, and spend more quality time with his children. He has set up a home business, which means he has more time with his family. Anthony is also conscious of his health. He tries to eat well, drink less, and take vitamins. He has completed a wellbeing course, which he feels has helped him manage his emotions. Anthony has been involved with online groups around inherited MND, and finds it useful to share information with others in a similar situation. 

Anthony is keen to participate in research. He is part of GENFI and has annual research visits which involve various cognitive tests, as well as lumbar punctures and skin grafts. Although he had complications with one lumbar puncture, he has had several since and is willing to help in any way he can. He has also taken part in the C9orf72 cohort study, and is involved in fundraising around MND. Anthony is hopeful for a treatment or a cure in the future and encourages other families to stay positive.

Knowing he has an increased chance of developing MND has made Anthony want to enjoy life as much as possible. He prioritises having new experiences and spending time with his children.

You only live once, basically. And if you’re going to live once for a shorter time, you want to make the best use of… enjoy your life as much as you can. So this, the whole me having the… does probability-wise mean I’ll live for a shorter period than I possibly would have done. They’re all possibles, but you never know what’s going to happen. But, so I’m much more proactive in booking things with the kids, so we’ll go to the Christmas theatre, and I definitely try and… it’s actually better now that I work from home, but I’m definitely more proactive in trying to have quality time with my kids based on… and when you look at, when you go on and see experiences of people with MND, and how quickly it does change, then it does focus your mind to do more now, basically. Yeah.

 

Anthony hopes that taking vitamins, eating a varied diet and drinking less will delay the onset of MND. Looking after his health is also about creating a “positive mindset”.

I think the way you eat is really important, and I think people, it’s changing now, but I think a lot of diseases are caused by what you eat. Because you are in your environment, and what you eat is what you actually put into your body. I think we do tend to eat a varied diet, more fruit, you know? Still enjoy your food but not have steaks every day, or whatever. Do you know what I mean? So we do, we definitely, yeah.
 
What’s your hopes for doing that? Is it staying healthy?
 
Yeah, healthy and delay any onset of MND, basically. People don’t know - I think there’s going to be big advances in what people eat linked to various diseases, and I suppose, a lot of it is like… you create a positive mindset. Yes, I am now taking my vitamins, I’m now eating healthily, I’m now drinking less, therefore I’m going to be healthy and... live longer. And that’s got to be a positive mindset anyway.

 

Anthony felt that having the pre-symptomatic genetic test would leave him “better off emotionally”. He wanted to move past the decision and on to the next one.

So when we found out it was genetic we talked about it and we were like, ‘We want to know,’ basically. My wife and I wanted to know, and it’s around the things we talked about … I’m better off knowing emotionally, from a probability point of view. To do the research, to plan ahead, to be able to know we need to tell the kids… I mean, the stage of life where, yeah, maybe we’re emotionally more equipped to be able to make that decision. I don’t know, depends on the stage of life you’re at. And I suppose, the other school of thought is if you don’t know then it doesn’t impact you. But for me, I still think it would impact you even if you didn’t find out, because you’d be constantly, ‘Should I get tested? Should I get tested? Should I get tested?’ and it’s… I don’t know.
 
For me, it’s better to know and just move past that decision and then on to the next one. And that decision itself causes a level of emotional stress, you know? And even when you get tested, you do have a 50% chance of it being lifted off your shoulders completely, but the other 50%, then you move on to the next course, basically.

 

The pre-symptomatic genetic testing process took longer than Anthony expected. He initially felt that he didn’t need genetic counselling, but found it was “worth doing”.

The process took longer than we expected, we had two meetings, I think, over a course of three months. So we thought it was a case of, ‘Well, we’ll get tested, then let’s get tested,’ but it was a case of you’ve got to go and see a counsellor, and it was like, well why do we need to? And then actually when we saw a counsellor, it was worth doing [laughs]. She asked questions around the kids and just finding out if you’re going to be able to cope with the decision you get. But we didn’t waver too much in that… if you do go backwards and forwards then it’s probably harder to make the decision for a start, because I did write down a list of why to get tested and why not to get tested, and actually the ‘why’ to get tested was quite convincing for me, basically.

 

Anthony felt that his genetic counsellors were almost resistant to him having the pre-symptomatic genetic test. He had to be very firm in explaining why he wanted it.

And I think for me, the counsellors were pushing for me not to have it, but I can see that for everyone, they push and push not to have it…  push is the wrong word, but they were, ‘Are you sure? Are you sure?’ and it’s all questions, but they had to make sure. They have to be 100% sure that you want to do it. But I did feel that they were possibly going too far into not having it, if that makes sense, and we had to be very much, ‘I want to have it.’ And I, you list the reasons out, but that’s just my own personal viewpoint

 

Anthony felt “deflated” when he was given the news, but tried to focus on the fact that he was well in the present, and on his reasons for pursuing pre-symptomatic genetic testing in the first place.

And can we talk, if you don’t mind talking a bit about what happened when you received your results, and your feelings at that time?
 
So I mean, yeah, you go in there, even though you go in there and you’re dead set to have it and you think you’ve got it, you’re still deflated when you’re told. My wife got very upset, so I was more concerned about my wife really, at the time. 
 
But you have to focus your mind and not, you know… there’s nothing wrong with me at the time and hopefully now, fingers crossed. And then you’ve got to look forward, basically, and even though you are, it’s not… you’d rather go in there and be told you haven’t got anything wrong and you carry on and you be elated, but you do get a lot of things in life where you get bad news, and a lot of those things are worse than being told you have a genetic disease, that you might get something in the future, yeah. So for me, it wasn’t the worst conversation I’ve ever had, by a long way.
 
But after the initial shock, then you have to go back to why you got the test in the first place, yeah, that’s where we’re at.
 

Anthony is open in sharing his experiences of inherited MND when taking part in fundraising events. He feels with more awareness, there is a greater chance of a cure being found.

If I do my fundraising, so this Prudential 100, I will probably put on Facebook that I have the gene and I’m raising money for MNDA for that reason. And it’s part of who I am, basically, so it’s not, you know… I’d rather the more people are aware, probably the greater probability of a cure being found. Even if it’s one, two, three, it multiplies up.
 
Like public awareness?
 
Yeah, yeah. I don’t think… there’s no, I don’t see the reason not to, if you’re having a conversation and you know, ‘I’m doing this, raising this money,’ I don’t see why you wouldn’t just say, ‘I’ve got the genetic default,’ you know? I mean, if you see the interview with Doddie Weir and stuff, it’s quite emotional when they talk about it on the BBC, so you know, I think… and my awareness course, you’ve got to let your emotions out and live in the present, basically. Even though, yeah, I’ve probably bottled things up in the past, I’ve got no qualms about saying what I’ve got [laughs].