Louisa

Brief Outline:

Louisa is in her 30s. She is married and has one young child. She works as a healthcare professional. Ethnicity: white British.

Louisa’s grandma died of MND when she was a teenager. Her mum recently developed MND and frontotemporal dementia caused by the C9orf72 gene variant. Louisa hasn’t yet decided whether to have genetic testing; for now, she emphasises making the most of life.

More about me...

When Louisa was a teenager, her grandmother died of MND. In the years that followed, she was involved in fundraising around the disease, but didn’t think about it as something that would affect other relatives. In 2018, Louisa noticed her mum had slurred speech. As a healthcare professional, she was concerned. She encouraged her mum to see a doctor and after waiting for various referrals, she was diagnosed with MND. At this appointment, she was offered genetic testing, and had the blood test. Louisa’s mum has also been diagnosed with frontal lobe dementia, a condition which has a genetic link with certain forms of inherited MND. 

Following the diagnosis, the family had an appointment with the neurologist over a video call. At the end of this call, he asked to speak to Louisa alone and told her that the genetic test had shown that her mum had the C9orf72 gene variant. Although Louisa has shared the genetic testing results with other family members, she has decided not to tell her dad as she feels it would be too much of a strain on him. 

For Louisa, finding out about the gene variant in the family has been difficult. She has found it hard to know what to do with this knowledge. While there are days where she feels able to cope, there are also times where it is at the forefront of her mind. She describes a sense of guilt over the possibility that her daughter, who was born before her mum’s diagnosis, could be affected. It is important for Louisa to get to a place where she can manage this information; she does not want it to impact on her mood or relationships. She has considered seeking professional help, but after mentioning how she was feeling to her mum’s nurse, this conversation was never taken forwards. Louisa would like to see support offered to families affected by inherited forms of MND. 

Whilst Louisa initially felt that she would like to pursue pre-symptomatic genetic testing, she is now undecided on if it would be the best thing for her. Whilst it would be “great” if she tested negative, she is concerned that receiving a positive result would take away the hope that she might not carry the gene variant. She questions why she wants to know, given that there would be little she could do. However, she feels that she might explore genetic testing further when she is considering talking to her daughter about the family history; if she received a negative result, she would not need to share this information. For now, her approach is to get on with life and live as well as she can.

Although she struggles with feeling unable to control the situation, Louisa tries to find ways to clear her head, such as through running. She focuses on things she can achieve, like supporting her dad in caring for her mum. Louisa wants to prioritise doing things she enjoys, such as holidays and spending time with her family. She plans to create video recordings and written memories for her daughter to be able to look back on.

Louisa tries not to spend too much time looking up information but has sought out credible sources to learn more about the disease. She has read into current research and is hopeful that future studies will work to develop treatments which will benefit people either before or in the early stages of symptoms. She encourages other families in a similar situation to focus on what is important in the present, and to seek support if they need it.

Louisa’s mum has been diagnosed with FTD and has “transient capacity”. Because of this, the family have struggled to put in place Power of Attorney.

We’ve sort of struggled off and on with trying to get power of attorney and things, but there was a bit of a faux pas with the paperwork, so it never went through, and then by the time… We probably, mum’s got a transient capacity, so it’s getting her at the right time with the right people, that makes that process quite difficult because it’s all got to be done in order, you know, so you can’t sign before I sign and blah, blah, blah.

But in the end, we’ve decided that we don’t really need the health power of attorney, like there’s no real, I don’t think there’s, all the decisions that are getting made medically are in her best interests at heart, the doctors and the nurses and by us, we’re all just acting in her best interests, so. And we’re not going to ever go outside the norm to the point where we need to say like, “No, this is what has to happen”.

The financial power of attorney was the one which would make things easier. Pensions, bank accounts, etc. are all impossible to manage without that.

 

Although her FTD means they can’t have the conversations they otherwise might have, Louisa sees it as a “blessing” that her mum is able to continue enjoying life.

I’m more worried about - no, not more - I’m as worried about the frontal lobe dementia as I am about the motor neurone disease, because you know, people with motor neurone disease without dementia, I know that there’s the physical disability and inability to speak and stuff, I don’t know. Like is it better that you understand and hopefully by some method of communication can get your thoughts and feeling across?

I think it’s a blessing for my mum, you know, I think - I totally like contradict what I say there, don’t I - but for my mum, I think, awesome. She doesn’t think she’s got it until recently and she’s plodding on with her life as normal. The only, but the problems are for us because she poses a little bit of a risk to herself when she picks up knives and well, she’s fallen over now and broken her wrist so that’s something that my dad’s having to cope with and, well we’re having to cope with.

But I think at least she’s happy just getting on like she would normally, and it’s probably a bit selfish that I want her to be able to not have that so we can like sit and chat about just stuff, you know, like life, love, that sort of thing, by whatever means would assist her to communicate.

But for myself I’m as worried. Wouldn’t it be nice like not to actually know anything about it - or not not know anything about it, but like not be quite so tuned in? But that’s not, I don’t feel like that because I don’t want that to, I don’t want to have any burden on my family.

In hindsight, Louisa feels that the decision for her mum to have genetic testing after her diagnosis was made too quickly. The test results are “a big nugget of information that I don’t know what to do with”.

That was quite quick actually, and in hindsight it was probably too quick. It was a case of, “We can do your blood tests and one of them can include looking at your genes, what you might have, given that your mum, your gran” - my grandma - “Your mum had it”. And the doctor asked a lot about anyone else, like her parents that had had a diagnosis of dementia or motor neurone disease. It probably lasted about a minute or two, I mean to give him the benefit of the doubt it maybe went up to five, with going back into the family history and stuff …. And then it was just like, “Yeah, well I guess so”.
 
Then the next thing… I maybe helped my mum say yes to that, I don’t know, I couldn’t be 100% sure to be honest. I feel like it just happened quickly, it was a blood test that she could have done and then it wasn’t really a lot about the impact of the information discussed at the point of testing, “Shall we test? This might bring up this problem and this problem and this problem”. Maybe there was a little, wasn’t enough of that or a lot of that.
 
I guess I feel like finding out its inherited is huge. There was so much gravity on the first neurologist not diagnosing my mum with motor neurone disease and waiting for a specialist to do that because of the gravity of the diagnosis, that I feel like that was pitched right. Yet, the inherited factor doesn’t have the same pitch. The gravity is the same for me - I mean it’s not the same, you’re not actually being told you’re going to get it - but the feeling that you get is like that.
 
So probably yeah, it needs to be… I know it’s held in high regard, I know that it’s not taken lightly that people give this information and I think that mum’s neurologist is amazing, his way of speaking with us and her is brilliant. I guess it’s just, what I’ve found is it’s just a big nugget of information that I’ve got now that I don’t know what to do with. So, something that would be like helpful about that would help.
 
Yeah. Are you thinking of anything specific?...
 
I’m not really thinking of anything in particular, I just feel more time dedicated to that information given. It’s just a blood test result but it’s not really just a blood test result, do you know what I mean? I don’t know, maybe your own appointment, separate appointment, because then I could speak about all my irrational thoughts and feelings, or rational, maybe one or the other, without being in front of mum and dad. There’s questions that I might’ve asked at the point of testing for genetics, doing the test, if my mum and dad hadn’t had been there.

 

Louisa manages her thoughts and fears around inherited MND by focusing on the things she can fix, like helping her dad to care for her mum. Exercise helps take her mind off things.

I distract myself. Yeah, I wouldn’t say I pretend it’s not there, but I really just focus on doing other things. If I find myself getting in a bit of a head fart about it, I just go out for a run... I always say I would run because I like to thrash things out in my head, so if I’m feeling a bit, if I’m stuck with something at work or… if me and my husband had an argument or something, I would just put my trainers on and by the time I’ve got round I’ve rationalised it in my head it’d be okay when we got back.
 
Like now, I don’t really want to hear my thoughts. I do a little bit, sometimes I still have that purpose but I asked for headphones for my birthday, so I’ve got my new headphones… so I can listen to music instead and then just hopefully that’ll take my mind away from things. Because there is no outcome to my thoughts. I’m probably, everyone would say I’m a problem solver, and I am a little bit of a problem solver and that’s probably the thing that’s narking me the most is that I can’t fix the problem. Apart from contemplating going to medical school and focusing in neurology and joining the cause, I just think there’s nothing I can do. So, there’s no… I can’t fix it.
 
So, I focus on small problems that I can fix, like giving my dad support, like offering to swap houses with him so he can have a little bit of rest, that makes me feel better. I don’t know, baking or doing something, I focus on the things that I can achieve. I probably would’ve signed up to some event or something by now if it hadn’t have all been shut down, but they’re the things that I’ll do because they’re small goals that I can set for myself and get through. And then that takes your mind off it as well, doesn’t it, a little bit.

 

Louisa has looked into lifestyle factors that could affect the onset of MND, but until there is “high quality evidence” she doesn’t feel it is justified to make any extreme changes.

The neurologist at the time said there was a 50% chance that I would carry the gene. And he said that if I carried the gene, he did say that it wouldn’t be absolutely definite that I would get it if I had the gene, he said that it is pretty likely that I would get it if I carried the gene, do you know what I mean?
 
Then I did ask him, “So what can I do, can I do anything, can I change my lifestyle? If I go and drink two bottles of prosecco this weekend, is it going to mean that that’s going to make me worse off [laughs]?” And he said, “No”, he said, “Just live your life how you’re going to live your life”, he said, “If that includes two bottles of prosecco at the weekend then it does”.
 
Recently though I suppose - you jogged my memory actually - I have looked more about lifestyle factors, and I know the research is, you just don’t know, do you, there’s hypotheses of like “This might make your chances of it getting worse”, or “This might, or this might not”, but nothing’s saying, “Don’t do this”. So more recently I’ve looked at keto diets, if I changed my diet would that help? Then I read - so I’ve ran marathons - then I’ve read, “Increased physical activity can maybe bring on motor neurone disease or complicate.” And I thought, “Oh, God, this is just… I can’t do that to myself.” So, I stopped, I stopped reading any more than that because I thought I can’t not go for a run because that’s what I need to do for mental health and it’s good for my daughter to see that we’re fit, and we eat healthy. And I eat reasonably healthy anyway, I do have the odd glass of prosecco here and there and did probably drink too much on my birthday, but I’m not that unhealthy.
 
But it has recently crossed my mind that maybe the fact that I’m not unhealthy might not be to my benefit. But without hard evidence, I can’t take that as gospel, can you, so. I try not to worry about, I’m trying not to worry about it because I know that it’s not nailed on hard fact or proved with high quality evidence, so how can I justify a drastic change to my lifestyle with possibly no sort of benefit?
 
Yeah, yeah, I know what you mean.
 
Don’t get me wrong, if I was eating cakes every day, that information would’ve spurred me on to eat more vegetables, but to live in ketoacidosis, that’s extreme, isn’t it? I don’t want to have to go to extreme behaviours if going to have no benefit. Having said that, I did work with someone who when they released all the diabetes, if they went on a low-calorie diet, you could reverse type two diabetes. And I thought, “Well that’s different, I would do that”. If it was something like that then I would give it a go. Maybe something will come up in the next ten or 15 years and I’ll be able to kick the arse out of it [laughs].

 

Although she doesn’t want to have presymptomatic genetic testing now, Louisa has “no idea whether or not I’ll get tested in my lifetime”.

At first, I thought I would need to know.

Then I started to think about why would I? Why would I get it done and why would I not get it done? If I know, how is that, how is that going to change what’s going to happen in my life? I’ve already had my daughter, you know, like what, how does that benefit me?

It takes away the hope that I don’t, and I think knowing that I had that feeling when I knew mum had had the test, but we didn’t know the results, even though I was pessimistic about it, I think that the hope gave you like just a little percent where you thought, “Well maybe she doesn’t carry the gene”. So, I feel like if I got tested then I would know and then if I had the gene, I feel like it would really affect me. I would feel like I couldn’t pull myself back. Obviously if I found out I didn’t have the gene, that would be great, but you have to roll the dice, don’t you.

My brother first said to me, “Just, right, well we know, we’ll just get on and live our lives.” I thought that was quite a sensible thing for him to say. I thought we’re just going to live life anyway and what are you going to do? Sit and wait, sit and wait for a symptom to happen, irreversible symptom, you know, not just like a twitchy eye or something, you know, but like something that you think over a period of time, “I need to go to someone now”, like do you sit and wait?

We’re going to sit and wait for that anyway, aren’t we, because if that’s what happens I’m going to sit and wait on it and then go and see… I don’t know, I don’t know. I just feel like if I just forget about it, try and forget about it and get on with my life, I am or I’m not going to be affected by this disease and I’ll deal with at the time. And in the meantime, I’m going to try and have nice holidays and write little notes to my daughter and record things and try and just live my life as well as I can.

Although she is concerned that taking part in research could increase her worries, Louisa feels the benefits would outweigh this. She wants to be around for as long as possible.

My concerns of taking part would be that it consumes me more than what it already is, like I would worry that doing that would mean that on a certain day at a certain time I was going to be reminded of it for as long as a research project would’ve gone on for. But I just feel like the benefits for everyone else outweigh that, don’t they? And I mean like for myself firstly, like I want to live as long as I can. I want to see my daughter get married, I want to - or not - or travel the world or do you know what I mean? There’s things that I don’t want to miss out on.