David
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David is 62 and before giving up his job, worked as a self-employed handyman and bicycle mechanic. He is married with two adult children, who are 27 and 29. Ethnicity: White British.
David lost his mother to MND as a teenager. After developing symptoms in 2019, he was diagnosed with MND caused by the C9orf72 genetic variant. David tries to keep up with research and hopes that having information will help members of his family make informed choices.
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David first experienced MND in his teenage years, when his mother developed the disease. He helped care for her during her illness, which was a difficult period in his life. In 2019, David noticed weakness in his right hand and foot. Whilst he questioned from “the very beginning” whether he could have MND, as he recognised the early symptoms from his mother, he spent the months that followed undergoing investigations into other causes, including peripheral neuropathy and a vitamin B12 deficiency. Although he had been told in the past that MND was not inheritable, he did some research and discovered that this was not the case.
Eventually, David was referred to a neurologist and was diagnosed with MND around a year after he developed symptoms. Knowing his family history, he also sent off for genetic tests, which identified his condition was caused by the C9orf72 genetic variant. He now believes that his maternal grandmother, aunt, and her son, who all died of early-onset dementia, could have also carried the gene variant.
David has used an ancestry website to study his family history and trace the disease through previous generations. He believes that knowing who could have been affected and who may be at an increased genetic risk will give other family members the knowledge to make decisions around genetic testing, including before or during pregnancy, which could prevent MND in future generations. He has spoken to his sister and her husband about talking to their own children, and plans to contact his extended relatives about the family history. Having such discussions is a “delicate thing”, and David wants to make sure that he does so in the most supportive way he can.
David has had conversations with his children about pre-symptomatic genetic testing and options around starting a family. He acknowledges that they are in a very different situation than he was, because they will spend much of their adult lives knowing about the possibility that they could develop the disease. He therefore supports their decision to have genetic testing, and feels that the 50% chance they could then live their lives knowing that they don’t carry the gene variant is “good odds”. If they receive a positive result, he is confident that gene therapies will be available by the time they may develop symptoms.
Although he emphasises that every person with MND is different, David has both personal and professional experience of caregiving and knows what is involved in this role. He feels that his family have yet to fully grasp what is coming. Whilst he is still able, he has started to make changes to his home so that areas such as his garden will still be accessible to him as he becomes less mobile.
David is hopeful for a treatment or cure for MND, if not for himself for future generations. Even prior to his diagnosis, he started looking into information on MND and the research around this. He uses various sources including talking to people he knows who work in relevant fields and reading scientific papers to keep up to date with progress in this area. Based on what he has found, he has sourced two medications already used to treat other conditions, which have been hailed as promising treatments for MND based on either pre-clinical or early stage clinical trials. He now takes these alongside riluzole and believes that he has maintained strength and even built muscle in areas unaffected by MND. He is seeking opportunities to participate in clinical research, and has joined an online research programme after attending a virtual symposium, which he found ‘inspiring’. David encourages people affected by MND to challenge the disease where they can, and to “keep going”.
Remembering how his mum had been affected, David had a sense that his symptoms could be MND. He did some research and realised that it could be inherited.
Remembering how his mum had been affected, David had a sense that his symptoms could be MND. He did some research and realised that it could be inherited.
So, to start with there were a few different things they were investigating, but was there a point at which you had a sense that it could be MND before the neurologist said that?
Oh, from the very beginning yeah, but I just convinced myself it wasn’t. I mean the first thing I thought was, “Oh, no, this is how it started with my mother”, foot drop on her right foot was how it started with my mother, so I thought, “Whoa, this to me could well be, but it could be other things”. So, I did what every neurologist would do, isolate all the other things it could be and then eliminate them, I was doing the same.
So, I got to the point of thinking, “I’ve eliminated everything else, all that’s left is a neurological disease and my mother had motor neurone disease and it might be inheritable”. So, then I researched it of course, on the internet, and of course yes, it is inheritable, so then I went, “Oh”.
David points out that there are many factors that influence how people are affected by MND, and it is important to treat everyone as an individual, with their own unique disease.
David points out that there are many factors that influence how people are affected by MND, and it is important to treat everyone as an individual, with their own unique disease.
And I would say one of the best things you can say to people - I was saying this to my wife last night - it’d be better to say, “You have a unique disease that is in the motor neurone disease field, but yours is unique, and how you respond and how you progress and what happens to you is you, it’s just you, and so we need to work with you as an individual.” I would say too, it’s a bit like, and I was saying this last night, we used to say people had autism, we now say people are on the autistic spectrum and each person is different, and I’ve worked with people on the autistic spectrum and they were all different.
We have a tendency to say, “You’ve got motor neurone disease”. Well no, what have you got? SMA, ALS, FALS, sporadic ALS, what have you got? Well even if you’ve FALS and its C9orf72 ALS or SOD1 ALS, it’s still your disease, it’s, it’s, it’s your disease, it’s not anybody else’s. It’s not my, I don’t have my mum’s disease; I’m not my mum you know. She got it within her 40s, she wasn’t as physically fit as I am, she hadn’t done the things I have done, her diet was totally different from my diet, there are so many factors affecting.
On the day David was diagnosed, MND was on the news. This helped him to share his diagnosis with extended relatives and talk to his family about what to expect.
On the day David was diagnosed, MND was on the news. This helped him to share his diagnosis with extended relatives and talk to his family about what to expect.
The Tuesday of my confirmed diagnosis we, we put BBC news on and on BBC news was, there were two people with motor neurone disease, and they were talking about possible money for a cure or a therapy for MND, and the main topic on the news was motor neurone, for the first time ever motor neurone disease was headline news on BBC news, and on the news were two people and one had bulbar onset ALS, so she couldn’t talk very well, and another person had spinal muscular atrophy, I remember that, so they were, they could speak okay and their upper body was fine, just the legs.
I think that really impacted my family. So I’d come home with my wife from the diagnosis, started, talked a bit over our meal about my diagnosis and then the news was on and blow me, if that’s going to be shock therapy for anybody, that was, because it was right in front of them, and then that allowed me to then talk to them about the different ways it begins with people, the way it happened with my mum and the end of her progression what happened, “So this is what you can expect, but it won’t be the same with me because I haven’t got bulbar onset ALS, I’ve got motor onset” because my, both of my… mainly right side as well.
So that gave, it was like an “oof”. It was like, was it a good thing to have that on the news on the day I was diagnosed? Possibly, because it shortcutted, it just basically went boom straight to the whole family, and family members were ringing up and saying, “Did you see that?” I said, “Yes, that isn’t what I have quite, but yes, I saw it”. So it opened up to the whole family, you know, the extended family, that David’s got motor neurone disease, “oh, this is what it’s like”, because it was on the television on the same day.
When sharing the results of his genetic test, David realised he had given his sister too much information too quickly, and that she needed time to process it.
When sharing the results of his genetic test, David realised he had given his sister too much information too quickly, and that she needed time to process it.
Maybe I’m daft but I naively expected because she’s a doctor and she’s quite clever, I thought she could work it out herself. But then I realised she didn’t and I said, “Well, there’s a high probability that you will, well there’s a 50/50 chance that you will carry the gene as well, and if you carry the gene then there’s a 50/50 chance that each of your children will carry the gene.”
So… and I said, “there’s all sorts of, you know, there’s in vitro fertilisation and embryo selection, so if any of your children are thinking of having a child, you know”. And I just thought, I touched a nerve somewhere in all this. She’s quite, she’s quite an Evangelical Christian so I just wondered had I may be gone too far and broached a subject that she wasn’t happy with. So, I realised then, “Just stop talking”, which is for me unusual, “Just stop talking and let her process it.”
For David, it is important to “keep challenging” the disease. He encourages others to try and find something in themselves to keep going.
For David, it is important to “keep challenging” the disease. He encourages others to try and find something in themselves to keep going.
But you know, if you have a, some sort of terminal disease, don’t think it’s going to kill you straightaway, and it’s not suddenly appeared and suddenly you’re dead, it’s progressive and there are things we can do that might slow its progress. And other things we can do like drinking two, work it out, three pints of extremely strong cider don’t help us [laughs]. So you know, make your choices and live with the consequences and don’t just think, “This is a terminal disease, woe is me, I’m going to fall over and die”. Keep challenging it, you know.
I keep challenging myself to go back on my exercise bike and rowing machine and cycle, you know, and I’m resisting getting an electric, an electric bike. My wife’s saying, “Buy an electric bike”, “No, if I can pedal, I’ll pedal as long as I can”. So, it’s just I think… but we all respond differently, but I would just encourage people, don’t fall over and think, “That’s it”, and collapse and spend the rest of your life in bed, try and find something in you to say, “As long as I can, I will keep going”.
David’s illness has made him re-think who he is, but he plans to find ways to continue doing things that are important to him, such as learning to sail.
David’s illness has made him re-think who he is, but he plans to find ways to continue doing things that are important to him, such as learning to sail.
It’s challenged how I see myself and it’s made me have to re-think who I am… When you’ve been, like I have just been, all my life I’ve just been able to do whatever I want to do. I don’t mean because I’m rich or anything, just if I want to learn a new skill, [clicks fingers] learn a new skill, easy, you know, anything. I wanted to, I thought I’d learn how to kayak aged 50, went on a course and learnt how to kayak, learnt how to roll the kayak, learnt how to control it, it’s great. I had planned to learn how to sail, you can’t tie knots, you know, so I’ll find somewhere, someone who’s got a yacht that’s adapted for disabled people and I’ll go sailing.
So I still try and cling on to bits that form my identity while I still can, accepting that I won’t be able to. So then who am I? Well I’m an argumentative, challenging person who wants to make things happen. I can still do that while I can still talk. When I can’t talk, my mum could still communicate what she wanted, so yeah, I could still communicate what I want. It’s how can I live without being too much of a burden on the people around me? I don’t think they quite yet understand fully what is coming.
As a teenager, David found caring for his mum to be emotionally and physically draining. He does not want his family alone to be responsible for his care.
As a teenager, David found caring for his mum to be emotionally and physically draining. He does not want his family alone to be responsible for his care.
I would imagine, well I know, there is more available now than there was 50 years ago. We lived in a fairly rural location when I was in my teenage years, and we do now, but I could pull in support from outside, as in from social services, if they’ve got any money left, or from the county council, and I don’t want it to fall all on my family to care for me. I had that and it drained me as a teenager, it really did. Physically and emotionally just drained me for five years.