Dani
Dani is 69 and is a retired garden designer. She has two adult children, who are 42 and 45. Ethnicity: European New Zealander
Dani was diagnosed with MND at 62 and was the fifth of her siblings to develop the disease. She is involved in a clinical trial targeting the SOD1 gene and hopes that this treatment and others using similar techniques will benefit future generations.
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Dani’s sister was diagnosed with MND in her early 40s, and at the time was told that it could not be inherited. However, after she died, Dani’s younger brother also developed symptoms at the age of 32. The family started to question whether it could be hereditary, which was confirmed when her older brother was diagnosed some years later, aged 70. Around this time, the SOD1 gene was discovered. He had a genetic test which came back positive, and the other siblings were told they had a 50% chance of having this gene. Since then, Dani and her sister, who was diagnosed around a week before she was and died only two years later, have also been affected by MND. Neither of Dani’s children or any of their 60 cousins have developed the disease, leading some of the family to question whether it could have skipped a generation.
Before her diagnosis, Dani lived with the knowledge that she might develop MND for many years. After her younger brother was diagnosed, she had a period where she thought she had symptoms, which “terrified” her and had a profound impact on her life. However, Dani never considered having pre-symptomatic genetic testing, and maintains that having 20 years of knowing “would have ruined my life”. Although MND was in the background, not knowing gave her a period of “freedom” where she enjoyed her life.
Dani was diagnosed with MND when she was 62. Having seen the disease in her siblings, she knew straightaway what was wrong. However, she had to wait for 6 months for an appointment with the neurologist, which was “worse than actually knowing”. Her diagnosis was confirmed with a genetic test, and although she initially struggled with knowing what was ahead of her, her GP prescribed her an anti-anxiety drug which she describes as “the best thing I ever did”. Since then, Dani tries to make the best of what she can do rather than worrying about what she can’t.
Dani has taken part in several studies around MND, as well as doing surveys and interviews for campaigns around the disease. For the last three years, she has been enrolled in a clinical trial targeting the SOD1 genetic variant of MND, which she believes has stabilised her symptoms. This involves going for tests and monitoring every four weeks, where the drug is administered via lumbar puncture. Although Dani generally enjoys these trips and feels “well looked after”, it can be hard to deal with the uncertainty of what will happen when the trial ends, especially around access to the drug. Nonetheless, the trial gives her “a reason to keep going”. She hopes that such treatments will help future generations, including potentially members of her family.
Dani has two adult daughters, who grew up seeing their aunts and uncles with MND. Although they did not explicitly discuss it being an inherited form, that information was “just there”. They have both chosen not to pursue genetic testing, which Dani supports.
Dani does not need professional help with her care, but has used some services offered by her local hospice, including therapies like massage. She appreciates having an MND Association visitor, who provides practical assistance. Although she initially found it frightening, Dani benefits from connecting with others on an online forum, where she can exchange advice. She values the support of her close friends, sisters and daughters.
Dani is one of sixteen siblings, and five have developed MND. She knows there is a 50% chance each sibling could be affected, and wonders if other siblings could be gene carriers.
Dani is one of sixteen siblings, and five have developed MND. She knows there is a 50% chance each sibling could be affected, and wonders if other siblings could be gene carriers.
So because we’re such a large family, we’ve sort of distorted the figures, really. Because if my mother had of had five brothers and sisters, there’d be more people with it. Whereas she went on to have so many kids, you know, and so many of us have got it. When I look at statistics, five out of sixteen really, you know, it’s quite a high percentage of people… it’s meant to, it’s a dominant gene so it’s meant to be 50%, isn’t it? So there could be others that had it and didn’t die of it, or haven’t died of it. A few of my brothers and sisters have died of other diseases like cancer and heart attacks and things, but no… it wouldn’t solve anything really, it’s just interesting, I suppose, to know where it came from.
Dani had to wait six months to see her neurologist after noticing symptoms. Knowing she had MND, she found the waiting more difficult than having the diagnosis confirmed.
Dani had to wait six months to see her neurologist after noticing symptoms. Knowing she had MND, she found the waiting more difficult than having the diagnosis confirmed.
I started limping, that was my first symptom. Well, when I look back, there were other symptoms. It was like fatigue, I couldn’t do the physical things that I could do. I remember I had a partner at the time and he bought me for my sixtieth birthday, he bought me a course in paragliding. Because I mean, I was up for all that sort of thing and I thought it was a fabulous idea. I tried it once or twice but I just couldn’t pull the sail from the bottom of the hood up to the top, and I couldn’t carry on with the course which is so unlike me. But I didn’t know then that I had it, I just was a bit disappointed in myself that I couldn’t do it. But I look back and that was sort of the beginning of the fatigue and not being able to do it. And I remember going and staying with my sister in [country] and walking down to the shops, and coming back up a slight little hill, finding it really difficult and thinking, “Goodness me,” but it didn’t cross my mind that I had MND.
And then when I came back here, I used to walk like three times a week for an hour and a half with my friend down the road, and that’s when I started limping and that’s when I went to the doctor. I had my suspicions and I just couldn’t stop, you know… I, my left side was weaker than my right and I started limping. And because of my family history, of course, they don’t sort of have much doubt, you know. I had a really lovely doctor and she just said, “I think you’ve got to see somebody.” And then I couldn’t get to see this neurologist in [hospital] because he only sees patients once a week, and so I went to a private, and she wasn’t very good at all, actually. And then, yeah, so that’s how… and then yeah, then I waited to see, I waited about six months to see the [doctor at hospital], and it was confirmed pretty quickly. In fact, he told me after the first examination on me, he said he could tell from my arm rigidity, I think, something like that he said, in my arms, that I had it.
Of course, that was… in some ways, I was almost glad to know that I had it. I know that sounds really weird but the six months waiting, knowing that I had it in my head, hoping to god it was something else, was worse than actually knowing.
Having a terminal disease has shaped Dani’s attitude towards life. She takes the approach of focusing on what she can do and making memories.
Having a terminal disease has shaped Dani’s attitude towards life. She takes the approach of focusing on what she can do and making memories.
Attitude to life, I just… yeah. Well, I think anybody with a terminal disease, who’s confronted with having a terminal disease, looks at things just so differently. It’s like people worry about stupid things that just don’t matter, you know? And so yes, I have, it has changed my attitude to life. Yeah, just you look at life through different eyes, which is good, you know? It’s good.
Has it changed like your priorities then, maybe? Or…
Yeah. And I listen to people moaning and groaning and think, “Oh, for god’s sake. Get on with it” [laughs]. But I’m very much a get on with it sort of person, maybe that’s a trait of being a Kiwi, I don’t know. But you know, don’t sit around too long moaning and groaning about what you can’t do, remember what you can do, and you know, make memories and… oh, I’ve been on a cruise up to the Northern Lights, that was in my wheelchair. There’s lots you can do. A lot of people don’t have enough time when they’ve got a terminal disease, to get it all in. I’ve been really lucky. I was very lucky to get on this trial.
Dani felt there was no point in having pre-symptomatic genetic testing and “terrorising myself”. Although she has since been diagnosed with MND, she looks back on this as the right decision.
Dani felt there was no point in having pre-symptomatic genetic testing and “terrorising myself”. Although she has since been diagnosed with MND, she looks back on this as the right decision.
It was never even a decision; I just didn’t want to. It scared me. And so, and I kept thinking look, if there’s no cure for it, what’s the point of terrorising myself if I did have it? And I’m so glad I didn’t do the test because I would have known, and I just think that would have ruined my life. So no, it wasn’t even, it wasn’t even a decision, really, I didn’t even have to think about it. And I think for some people it’s right, some people it’s not, some people maybe can handle it, I don’t know. Because it doesn’t mean if you have the gene you’re going to definitely develop MND, but probably most likely with SOD1 you do. I don’t know the facts about that.
Being part of a trial gives Dani “a reason to keep going”. She has a hunch that the trial drug has delayed the progression of her symptoms and hopes it might become available to help others.
Being part of a trial gives Dani “a reason to keep going”. She has a hunch that the trial drug has delayed the progression of her symptoms and hopes it might become available to help others.
It hasn’t cured anything, but it’s certainly delayed progression. Well, it certainly has for me. And I’ve been on it three years. It’s quite a big commitment, to go over to [research centre] every four weeks, but they’re all just lovely and yeah. It’s given me probably a reason to keep going. Maybe that’s a clue, the fact that I know that I’m on this trial and, and it’s for my kids as well, my girls, I mean one of them could – both of them could have it, I don’t know. But at least now if they get the slight sign, they can get… once this is licensed and people can have it, you could have it right from the first symptom if you’re tested for the SOD1. If you think you might have it, you could go and get tested. Unfortunately for me, it wasn’t around at the beginning, but there are people on the trial who are still walking around because they got it quickly.
But I don’t know where it’s going to go, I don’t know. You know, they’ll have to find another way of administering it because I can’t have a lumbar puncture every four weeks for the rest of my life. And it’s very expensive, [biotechnology company] paying for all of this. But maybe they’ll licence it and it will be available say in [city] or somewhere, so I could go locally and have it. Or maybe they will have some kind of way of administering it through, they’ve suggested like having something inside you that you can just pump into yourself, in your head or something, I don’t know. But I consider myself a pioneer as far as this is concerned, and it’s exciting, you know.