Adam

Age at interview: 27

Brief Outline:

Adam is 27 and works full-time as a writer. Ethnicity: British-Persian

Adam’s mum was diagnosed with MND in May 2020, which he discovered to be caused by the C9orf72 gene variant. Since finding out, Adam has been made aware of some symptoms he is experiencing and is currently undergoing investigations himself.

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Adam’s mum was diagnosed with MND in May 2020, around two years after her sister died of frontotemporal dementia (FTD). Adam started to do his own research on MND, to find out about the disease and how to support her. He joined an online forum and pieced together the genetic link between MND and FTD and the fact that there could be an inherited condition responsible for what had happened in his family. He went to his mum with some questions, and she told him that she had tested positive for the C9orf72 gene variant a year before developing symptoms. It came to light that his grandad and great-aunt had also died of FTD and MND respectively, and Adam was told that he had a 50-50 chance of inheriting the gene variant in the family. Adam is adapting to life as a caregiver. He and his brother are supporting his mum with daily activities.

Finding out about the family history of MND made Adam reconsider symptoms he himself has been experiencing, in particular muscle weakness, wasting and twitching. Adam has been frustrated by how difficult it has been to get an appointment regarding these concerns, which he attributes to both the pandemic and his age. He decided to see a private neurologist in order to be seen more quickly and is currently undergoing investigations. Whilst the tests have so far been inconclusive, Adam finds it hard to deal with the possibility that he may struggle with the disease one day himself. 

Adam talks about the sense of doom that he has experienced since finding out about C9orf72 in the family. In everyday life, MND “doesn’t really go away”. As well as adapting to a changing body, he is forced to face questions around life and death and has found that his priorities and perspectives on life have changed. He considers more carefully how he spends his time and tries to optimise his health in terms of diet and quality of life. He finds he is accelerating his plans for the future and feels an urgency to meet his career and family goals. At the same time, he is grappling with what a diagnosis could mean for his hopes to settle down with a partner and have a family, but also with the fact that his mum may not be around when these things happen. He emphasises that the only way to live is in the present, focusing on what is going well in the everyday.

Adam has decided to have genetic testing and has seen a genetic counsellor, which he found helpful. For him, the question is when to have the test; he is aware that a positive result would not provide certainty on his symptoms, as this cannot predict when he would be affected, or rule out other causes. Nonetheless, he plans to pursue genetic testing when he gets some more answers from the clinical tests he is having. Regardless of the result, he thinks that knowing his genetic status would be beneficial when considering his options around having children and preparing for what he wants to achieve in life. He feels that not knowing would “fill me with more fear and anxiety”.

Adam has found it helpful to connect with others online, particularly younger people and other carers. He values talking to people who can understand and finds that they can offer more thorough answers to his questions. Adam encourages families dealing with inherited forms of MND to maintain open, honest and caring communication. He encourages healthcare professionals to bring warmth and a human touch to their practice, as this is so important to people’s experiences and outcomes. 

In Adam’s experience, FTD seems more “overtly scary” than MND. He finds it “overwhelming” to think that they can develop at the same time.

So I think whilst observing MND and its form is incredibly tragic and it’s incredibly sad to sometimes have to observe and obviously have to cope with knowing that a loved one is having to endure that, FTD seems to take on its own kind of life. I do feel like it’s a bit more overtly scary, but that’s just in my case, you know? The way that my auntie presented was quite odd, and you don’t know what’s going on, you don’t know what they’re thinking, you don’t really know how they’re processing what you’re saying, you don’t know if you can communicate basic things to them. Whereas MND, you do feel like you’re resonating or certainly your words are being received okay, even if they can’t respond or they’re, you know, they’re losing track of thoughts because they’re focussing on their symptoms physically.

So, I think there’s those kinds of differences, but obviously, you know, they can both happen at the same time or concurrently. So, thinking about that, although I haven’t known a relative [knocks on the table] who’s had that, thinking about possibly developing FTD and MND combined is obviously, given the aforementioned, quite intimidating and again, very overwhelming to think that that could possibly happen comorbidly.

Adam thinks that once you know the facts about inherited MND, it doesn’t really help to keep looking up information. For him, it’s more important to “live in the now”.

“Don’t cross the bridge too soon because you’ll pay the toll twice,” you know?  You can research into all this stuff but it’s not going to, it’s not going to help, you know? You know the facts, once you’ve read the facts, it tends to be best to just kind of stay away from that information. I don’t think it really helps once you know, obviously, the main points, I don’t think you should keep looking for things that affirm or deny anything you might think. Just kind of live in the now and do all the things that seem fairly trite but are very true when you’re dealing with such severity.

Although his mum’s progression hasn’t been as quick as they expected, Adam explains, “You always feel like you’re fighting the clock, because you have no idea of the timeline.”

It’s been straightforward in the sense that we know what we have to do when we need to do it, and I think you can develop a schedule quite quickly when you’re dealing with it and you take the advice of the specialist quite seriously, and you find the equipment that you need. So I think in my case, the progression of my mum hasn’t been rapid and touch wood it won’t, it won’t develop at a rapid pace. But I think you’re always, you’re overthinking a lot, so if it is potentially not as severe as you thought it might be at the stage you thought it was going to be or when the specialist estimated, I think you do overthink. You still question and you try and find answers sooner rather than later, you always feel like you’re fighting the clock because, again, you have no idea of the timeline.

Although he sometimes finds himself “mourning the future that isn’t going to be”, most of Adam’s sadness has been in seeing his mum lose the things she loved doing as her symptoms progress.

When someone very close to you could be dealing with, you know, well they are dealing with a terminal illness, it means that they’ve got only a certain amount of time. You know there’s certain things you’re not going to be able to do, unless you get to them today, so… yeah, it’s incredible sadness and almost you’re mourning the future that isn’t going to be, and a future that you’ve lost. That’s definitely sad.

But I think it’s just day to day things, you know? That’s quite painful to watch because, you know, you’re dealing with things that once were helpful to someone’s wellbeing and now they’re in a more challenging sight than they ever were, and things that they once used as crutches for their own wellbeing, you know… if you’re having a stressful day, if you’ve come out of a relationship or you’ve had a row with your partner or something and a walk around the park gets you by, you can only imagine that person that’s dealing with a terminal disease now and now can’t do that thing that once helped them, it’s 100 times worse, it’s a tragedy. So there’s those little moment to moment things that are all forming, there’s obviously the future thing. As I say, you don’t really think about the future things unless prompted.

Inherited MND is a “sensitive” topic in Adam’s family. He tends to talk to people in a similar situation online, rather than causing stress to family members.

I know the way that it affects intergenerationally, so it’s more the worry of how many of us could potentially develop it, and I think a lot of people are quite sensitive to the topic. So I think I only really engage with individuals who are prepared to talk about it. I don’t try and push it on them. And generally, it’s quite futile to do so anyway because it gets a very emotional topic and they’re not, they’re not in the know, so it’s not, there’s not too much point in doing it and it just causes stress. So, I tend to just kind of talk to professionals or people who are in, a part of the community who are willing to talk about it.

Adam sometimes assumes that if he were to develop MND, he might not meet a partner or have a family. There is a worry that partners might not “stick around”.

There’s almost an inference that I believe that if I was to develop symptoms, all of those plans are over. Which isn’t necessarily concrete truth. But it would make things a lot more difficult, I think practically. But I think also on a kind of social level, the fear is that if you get this disease, if you aren’t already in a very stable, long-term relationship, then potentially you aren’t going to find a partner or if you do, you know, or you’re in the beginning stage of a relationship, the person won’t stick around. And I think as someone who’s quite well versed in how MND manifests, you wouldn’t blame them because it’s quite a traumatic ride, certainly one that’s filled with adversity and kind of a struggle, it would be quite difficult.

So yeah, I think you do kind of presume that those plans are over, especially if you aren’t already engaged or in a relationship in the context, you know, talking about marriage, talking about children. Or just having, you know, a happy, satisfying relationship, I think you generally come away with a feeling of, “Oh, well if I’m not in one, I’m probably not going to find someone who’s going to accept the fact that their partner has MND and the toils that come with that.” Even if you are in one, hopefully one that’s stable and healthy, are they going to stick around?

For Adam, it is important to have open, honest and caring communication. MND brings enough challenges, so “you need the simple things to be simple”.

I wondered if you had any advice or messages for other people or families who are in a similar situation, who have been affected by inherited forms of MND?

Just to communicate openly, honestly and caringly. And if you don’t do all of those things, if you do one or the other more than the other, I think you’re going to have more hurdles than you need to have. It’s a challenging time enough, and I think without that communication, it’s going to become a lot more difficult and you really need things to be easy. You need the simple things to be simple because the difficult things, such as the MND and the way it, you know, affects people, they’re always going to be difficult. So if you make the simple things complicated then you’ve got, you know, you’ve got dozens more problems to have to deal with before you even get to the largest one, the scariest one.

So just to simplify by communicating very openly, I think because, you know… talk about feelings, talk about what you fear, what you want to happen. Speak about hope as much as you can because you don’t always, you don’t really feel that a lot. That would be, that would be probably my advice.