Lillian

Age at interview: 55

Brief Outline:

Lillian is 55 and works as a civil servant. She is married. Ethnicity: white British

Lillian knew she wanted to have pre-symptomatic genetic testing after finding out the gene variant linked to MND in her family. Although she received a positive result, she does not regret her decision, and is hopeful for research progress in the future.

More about me...

Lillian first became aware of MND when her father’s sister was diagnosed in the 1980s. Some years later her other aunt developed dementia, although the family did not connect these illnesses at the time. When Lillian’s father was diagnosed with MND she started to think that there could be a familial link. She went to her GP, but he could not give her any information as to how MND is inherited or her own risk. Later on, Lillian’s cousin, whose mother had died of dementia, was diagnosed with MND. Her cousin’s husband got in touch with the news that his wife had tested positive for the C9orf72 genetic variant. Since then, Lillian has also lost another cousin to MND.

Lillian describes being told about the genetic variant in the family as a “bombshell”. Although this was “devastating news”, it also enabled her to find out more information and make future decisions. Through reading scientific papers, Lillian found out everything she could about the C9orf72 gene. She knew immediately that she wanted to have pre-symptomatic genetic testing, as the knowledge that a genetic variant had been identified in her family was already a worry for her. She felt that her 50% chance of having inherited it would cause the same anxiety as receiving a positive result. She went to her GP who referred her to a genetic counsellor to begin the testing process. 

Lillian had two genetic counselling sessions before her blood test. She found that her genetic counsellor was “supportive” and understood her perspective. Although she felt more anxious when waiting for her result, she found the process simple. Lillian received a positive result and was told that she is at a “heightened risk” of developing MND in the future.

After receiving her genetic testing result, Lillian felt that she fell into a “black hole”. She wasn’t sure who to contact or what she should do next, particularly after meeting others in a similar situation who had been given more support. Lillian feels people who receive a positive result should all be given the same information, even if just a leaflet with details on next steps and opportunities to participate in research.
 
Finding out she has the C9orf72 genetic variant has encouraged Lillian to do the things she wants to do. She has recently got a puppy, and is considering early retirement. Although keeping busy helps her cope, MND is something that just “sits there”, as she is aware that she could develop symptoms at any time. Lillian is particularly conscious of things like tripping over, and goes into “full scale panic” when this happens. She has had cognitive behavioural therapy to try and deal with the uncertainty she faces over her future. Although this hasn’t removed her worries, it has helped her accept this uncertainty and understand how she worries.

Lillian is involved in GENFI and a C9orf72 cohort study. She has participated in several study visits where she has had physical and cognitive tests, including lumbar punctures, which she found “painless”. Although doing the cognitive tests can make Lillian feel anxious, she describes taking part in research as a positive experience. She is hopeful about the potential of ongoing research and trials, particularly in helping future generations.

Lillian lost her father, aunts and cousin to MND and frontotemporal dementia (FTD). She thought “there’s something going on here”, but only understood the link when she found out about the C9orf72 genetic variant.

The first I knew of MND was when my dad’s youngest sister started with motor neurone disease, bulbar motor neurone disease.

We didn’t think anything at that stage about it being in the family, it was just somebody in the family had been affected by motor neurone disease.

She died about two years later, and you just carry-on thinking, “That was really sad, that was quite horrible, quite disturbing to see how quickly the onset was and how quickly she moved, to dying.”

The next thing that happened that we didn’t link to my dad’s youngest sister’s illness at all was my dad’s oldest sister was affected by dementia. We didn’t pay any attention to when the onset was because we didn’t see any link, but she died with dementia. And again, we still didn’t think there was any family connection, we didn’t connect motor neurone disease with dementia, we just thought they were two isolated incidences.

Life ticked along, as it does, and my dad had a fall and again, we thought nothing of it, he was in his 70s, people in their 70s fall. But following on from the fall he started with weakness in his legs and his arms, and it became apparent over testing that he again had got motor neurone disease. So, he was diagnosed with motor neurone disease and his was initially through his arms and his legs, but eventually did get to his speech and swallowing, and my dad died.

At that stage, sort of the cogs start turning and you’re starting thinking, “Well that’s, you know two in the same generation with the same illness, there must be a family connection.” So, I went to my doctor’s and just asked, “Is there a family connection, am I likely to get this? Are any of my relatives likely to get this, my brother, his children?” And at that stage, I think there hadn’t been anything familial specifically identified. All that was known is that there was a family connection and none of, no genetic link or how likely it was. So, I went away with a slight worry in my mind that there was something in the family but there was nothing concrete to tie it to, there’d been no genes identified.

The next thing that happened was my dad’s oldest sister’s daughter was diagnosed with motor neurone disease, and we just thought, “This is odd, she’s the daughter of the sibling who had dementia, how come this is motor neurone disease?” And again, I thought, “There’s something going on here”, and it took a little while to get to the point where her husband got in contact with me and said, “There’s a gene, and it’s C9orf72”, and he explained the 50/50 chance of it being inherited from a parent.

After years of questioning whether there was an inherited form of MND in her family, knowing the name of a gene made it “real”. This was “devastating news” for Lillian, but also a “springboard to make decisions”.

When my cousin knew she’d got motor neurone disease… she wrote to my mum and said, “I’m really sorry to have to tell you I’ve got motor neurone disease.”

At that stage I thought, “This is odd, this is weird”, and it just increased my slight fear about familial motor neurone disease, but at that stage she hasn’t said there’s a gene. And it was when her husband got in contact with me, sent me an email just giving me an update on my cousin after she stopped being able to write and just saying, “she’s now supported…” and whatever “…but they have identified a gene and it’s this one, and there is genetic counselling and whatever available if you’re interested in doing it”.

That was a bit of a bombshell because it changed a worry about something you didn’t know about that wasn’t quantifiable into a really hard quantifiable fact, that there was a gene, that there was a 50/50 likelihood of having inherited it from your parents, or your affected parent. And it just made it very real, it brought it into reality, it gave it a name, it gave it an identity, it gave me something to look on the internet for.

I was thinking there’s something more to this already, so the anxiety was up to about 50%. But when you get the email to say, “This is what it is”, in some ways that was a comfort because actually you’ve got, “You’re right”, everything I’ve been niggling about for many, many years has suddenly come into being, and I knew there was something there. And it is devastating news, but it’s also a springboard to make decisions really, and understand what’s going on and the likelihood of there being better treatment once you’re affected, or even the massive likelihood of gene silencing.

Finding out about the C9orf72 genetic variant in her family enabled Lillian to search for scientific papers. Learning as much as possible is “the way my mind works”.

I’ve been all over the internet, I’m that kind of person that immediately you can just Google C9orf72 and find out rafts of scientific papers about the age of onset, the number of repetitions and whether that’s got an effect on onset, whether you’re likely to get it younger than your parents or not. And I immediately became, I got myself as far knowledgeable about it as I possibly could, because I’m like that. I know a lot of people wouldn’t do that but it’s the way my mind works.

So that was a massive time of activity, and I think I must’ve sat at my computer for months researching familial motor neurone disease and obviously the dementia side of it as well, and everything that they’d found out about this gene so far.

“Some days are better than others” for Lillian. Whilst there are times where she is more or less preoccupied by the possibility of developing inherited MND, she has strategies to help her cope.

Over time it’s something you, well something I haven’t been able to get off my mind. It’s there; it sort of sits there, “This could affect you any day”. Some days are better than others, and I manage it very well, I think for me. Obviously when my cousin died it sort of sets the worry going. And then obviously my older cousin died in November last year, and that again set me into a swirl of worry. Going to GENFI kind of brings it you know, like the week before I’m going to GENFI because I know what I’m going for, what I’m being sort of examined for and tested on is all around it.

But I manage to keep it off my mind for a long time. I’m just coming to the end of a block of cognitive behavioural therapy and that has really focused on trying to deal with uncertainty.

CBT isn’t quite the right thing to deal with this because I think CBT is really structured around things that can be solved, of coming up with solutions and there is no solution to this, but some of the techniques that they use around worst case scenario and understanding that you go to worst case scenario, and understanding that what you’re dealing with is uncertainty, and that everybody’s got uncertainty in different forms. What it’s done for me is it hasn’t stopped me worrying but it’s given me an understanding of how I worry. And I’ve got my final session next week just to do my sign off and plan.

If I trip accidentally or if I fall over something I’m immediately into full scale panic, I think I always will be. But what I was doing was when I had a worry about it, when something was worrying me I was having full scale panic attacks lying in bed at night - I don’t tend to worry in the day, I worry at night - and the CBT has helped me just calm that down to not sleeping but not going into a full scale panic attack, it’s just got me into you’re just suffering from dealing with uncertainty, that’s life, everything is uncertain. I’ve gone into everything’s uncertain now; you can’t trust anything.

It’s something that’s there, and it’s something that can affect you, but part of dealing with it is just trying to make the most of life. I’m better if I’m busy as well, it’s at night that I worry more. During the day it’s hardly on my mind, it’s, I can go through days and days and days and it doesn’t even pop into my mind because I’ve got a challenging job that keeps my mind off it, you know, keeping the house clean and tidy with the dog running round, it keeps me busy. It’s the dull moments at night when it worries me, but it can get pushed out of my mind with something else I’m worrying about. It isn’t like a tombstone hanging over me, it’s like a rollercoaster of it’s not really on my mind, it’s on my mind, it’s not really on my mind.

Avoiding stress has been a priority for Lillian when considering opportunities for promotion. She has thought about retiring early to spend time doing the things she enjoys.

I think the biggest effect is thinking about work and there are, I’m at a stage, there have been opportunities for promotion, but the next stage at work would be very stressful and involve a lot of travel. I don’t know whether stress has an effect, but I just don’t want to put myself under that pressure. And that’s probably part of thinking about look after yourself. I don’t know whether being under severe stress sort of can cause onset of symptoms, but just in case.

But the major one is thinking, the major decision is thinking about when to retire, and I may not be affected until in my 80s, if I live that long. But you don’t know, it could be tomorrow, and if I’ve not had the time to get out there and do more travel, do more hill walking I’d be very frustrated I think, frustrated I hadn’t done it sooner, if I just keep on working and working and working, I’d be frustrated to think, “I could’ve retired, I’m in a financial situation to do so, and I didn’t”. Initially I just thought, “I’ll retire straightaway”, and I just know that’s the knee jerk reaction to getting the diagnosis, and I’m a bit more measured and calm about it and thinking, “No, don’t rush at it, you’ve still got to earn, you’ve still got to build your pension”.

But yes, it has affected my thinking in that way and a bit more strike while the iron is hot, like getting the puppy, and if there’s places I want to go I’m probably doing it rather than hanging back… I’ve been deliberating about booking a holiday in October, it was working out quite expensive and the lady was very patient with me about just tweaking a couple of hotels to make it a little less expensive, but in the end, I just thought, “Oh, just go for it, I want to do that”. And I think under other circumstances I’d probably think, “Hmm, no, we need to save up a bit to do that because it’s quite expensive”, but I thought, “Nah, it doesn’t matter, it’s only money”.

Lillian felt “at sea” after receiving a positive pre-symptomatic genetic test. She had to work hard to find research opportunities and support.

I went into a dip after the result because I just felt totally unsupported. The genetic counsellor sort of fed me a couple of things but I wasn’t seeing him anymore, he just rang me a couple of times, so, “Can you go to [city redacted] on Saturday for this FaTHoM meeting?” and that’s been the end of it from him, I heard nothing more after that tip off about the FaTHoM event. That was the worst bit of it, having had all this support from a genetic counsellor and you know, the doctor initially involved, it just went, and if I hadn’t pushed doors and thrown myself around the country, I wouldn’t have the contacts I’ve got now, and I just feel I need to do something, and it’s the being busy and being active and trying to help.

And it is, you know, anything I can give I want to, but also, I want to feel I’m getting the right support. And you know, it sent my head almost exploding that one of the ladies at [city redacted] said, “Well I was just speaking to my neurologist the other day”, and I thought, “How come you’ve got a neurologist? You know who’s supposed to tell me where to do that?”

So that has been my bugbear is that you’re all at sea after you’ve got a result.

On receiving the news that the C9orf72 genetic variant been identified in her family, Lillian “didn’t pause for a millisecond”. She knew immediately that she wanted to have the pre-symptomatic genetic test.

So, the initial bang of ‘there is a gene’ sent me in a flurry of activity and sent me straight to my doctor. I think within a day I was sat in front of my doctor saying, “I want genetic testing”, because of what I’d asked for when my dad was affected with motor neurone disease, I’d asked my doctor, “Is there a family connection?” now I’d got it in black and white; there is a family connection.
 
And I don’t think I paused for a millisecond, it was, “I wanted to know”, because back when my dad was affected, I wanted to know, I wanted to know if there was a family link, I wanted to know if I was going to be affected and I didn’t waver from that thought of wanting to know; it was immediate. And even the genetic counsellor didn’t push me to have lots of repeated sessions with him because he said, “You just keep saying the same thing, ‘I absolutely want to know’”.

 

Lillian didn’t feel she would be any more worried than she already was if she found out that she had inherited the C9orf72 gene variant.

The knowledge that there was a gene and how it was inherited, it’s the same, it’s exactly the same worry as if you’ve got it. If you’ve got a 50/50 chance of having something you sit there and worry, “I’m 50% likely to be affected by this gene”, or “I’ve got the gene”. I couldn’t see the difference in that knowledge, it wouldn’t give me any more peace to have not had the test and sit there thinking, “It’s 50/50”, you’ve still got that chance of being affected any day, you know, you might be affected at 55, 56, 57, 90… 

I still think I would have the sleepless nights; I would still have gone for the cognitive behavioural therapy, I would still be triggered when things happen, sort of like other people being affected, sometimes it can be something on television and it just sends the nerves jangling again. But I was absolutely resolute from day one, and I still, I’ll standby it was the right thing to do.

Lillian described the genetic counselling process as “quick”; her counsellor understood why she wanted the pre-symptomatic genetic test and didn’t push her to have a lot of sessions.

In the process of genetic counselling, my genetic counsellor was very supportive, he listened, he understood me entirely. He knew he didn’t need to do multiple sessions with me, he knew I knew my mind, he knew the reason why I wanted to know, he understood the whole family issues, and I think he just got it. So, we had, we didn’t have many sessions. I think I saw him twice before we did the blood test, and I think that is really quick, but I just think we were just battering our heads on a wall because I definitely wanted to go through with it.

So when, the day they did the blood test he wheeled in another counsellor and the pair of them just said, “At this stage you can, you can either have the blood test and decide not to have the result or you can decide not to have the blood test”, but I wanted the blood test, and then obviously I was going in for the result. So, I saw the genetic counsellor four times up to the result.

Although she was more anxious when waiting for her pre-symptomatic genetic test results, Lillian wanted to get it over with.

How was that waiting period in between? How long was it?

I think it was just a few weeks

What were you feeling at that time?

Probably more heightened anxiety because obviously it has a different effect on your life whether it’s a positive or a negative result, so it does increase the anxiety, but it was something I wanted to know so I didn’t worry about it too much. Yeah, it was heightened anxiety. If I look back, I probably was more wound up, probably more anxious, probably sleeping not as well while we were in that. But it didn’t cause me massive problems emotionally because I’d been so resolute about wanting to know, and I just wanted to get it over with. If it could’ve been, if I could’ve had the test and had the result the next day, I’d have been happy.

Lillian has been “selective” about sharing her pre-symptomatic genetic test results. She doesn’t want people to feel sorry for her or “make any allowances”.

Well, my husband was there with me for the results, so that was one. I shared my result with the people in the family who knew about it, so they could pass the news down to the family below about what was going on. I have told a very few of my friends, but not all of them because on the face of it there isn’t anything wrong with me, I haven’t been given a diagnosis of an illness, I’ve been given a diagnosis of a genetic repetition that may cause something, and it’s a bit different than saying, “I’ve got”, because I haven’t got motor neurone disease.

But I’ve been very selective about who I’ve told because I don’t, in a way I don’t want people to feel sorry for me, I want just people to carry on like there’s nothing wrong with me because there is nothing wrong with me. And I don’t feel the need to share it very much wider, because just my very closest trusted friends, it will probably make them understand if I do have ups and downs sometimes and what will possibly trigger me to be a little bit lower sometimes, not that any of them would notice to be honest. When I told them they said, “I can’t believe that you’ve been through all that counselling, like gone through a year of going through this and got a result and you never said anything”, and they never detected that there was anything wrong.

I don’t feel a great desire to share it, and certainly it’s not something I’m going to tell work because I don’t want people to make any allowances. When they seem to, when people think there’s something, without having to explain it in infinite detail, I feel they might try to make allowances for whatever it is they think I’ve got, and there is no need to tell work.

So no, it’s not been shared very widely. It’s been hard sharing it with friends because most of my friends have known me since my dad died, so, or from before my dad dying so they understand that it’s something that I’m worried about, it’s a disease that I really don’t want to get, I don’t want my life affected that way, and I don’t want my family’s life affected that way.

So, it’s been difficult, but they’ve all been really good about it. They’ve been really understanding and they’ve asked me relevant questions, actually they’ve asked me intelligent questions about it and questions like, like the things that go through my head, which is, “What age will you onset?” and “I don’t know” you know, “Is there anything around that can stop it? Is there anything you can do?” they’ve all asked really intelligent questions, but they know it’s not something I want to talk about every time I meet them.

Caring for her dad gave them valuable time together, but Lillian describes how their relationship changed as communication became difficult. Her focus was on fighting for better care.

I think it was, my dad always liked spending time with me so in an odd way, I think he liked me being there, which helped. He seemed embarrassed when I had to help him go to the toilet because that’s not normally what we did. He did seem embarrassed, but it was absolutely a necessity and it wasn’t a big deal in the end, it’s just caring for somebody and helping somebody. Our relationship did change because he lost his ability to express himself. I had to just talk to him and he’d, if he could he’d squeeze my hand but very slowly that ability went as well. That became awful, that became awful because we used to just talk a lot.

And it was hugely upsetting in the end, to see him reduced to not being able to do anything. From a very proud and independent man, I think the last at least few months of his life were spent being unable to do anything, which was awful, it really, really was awful. And you don’t really have the same relationship in that because there is no two-way communication, there was no way of two way communication because he was just in a hospital bed being cared for. And as I say, I think the advances in the care are all the things that were really frustrating me at that stage; he never had a wheelchair ever, he never had any ventilation, nothing to clear his airways. And it became to me just a fight, it became less of a dad and daughter, I just became somebody who shouted at medical staff, “Do something for him, he’s uncomfortable, he’s in pain, he’s either in pain or really uncomfortable or he can’t breathe.

Lillian told her partner about her dad and aunt dying of MND early in their relationship, but they have both become more aware of what this could mean for her over time.

I didn’t know him when my dad died, so that’s the marker there really because I met him the year after my dad died. So, at the stage when I met him, I already knew that I’d had an aunt and a father that had died of motor neurone disease, and at some point, relatively early on that would’ve come up in conversation. It wouldn’t have been first day stuff [laughs]. You know, it’s not something you bring up early on, but it would’ve come up in conversation, and it would’ve, I would’ve expressed my fear, but also that I’d approached the doctor and they’d not given me any indication that there was anything to test for or what the genetic link meant.

So, we were together when we found out that my youngest cousin on the older aunt’s side of the family was affected. And I think when I read the letter I must’ve cried, so he understood that I was upset that she’d got it, but then I was, I was obviously confused with her mum having dementia and I couldn’t quite see the link.

So, we would’ve talked about it then and when the email came in from her husband saying that there was a defined gene, we would’ve talked again. So, we do talk about it, and I think the only difference sort of in us is that if he was in my shoes, he wouldn’t have done the test. But he listens to me, he’s understanding.

So yeah, I suppose the answer is yes, when we met at some point early on I would’ve mentioned my fears, but that it was unformed at that stage, it was just a fear and it wasn’t, it’s probably something that I’ve not mentioned very much again after that, after telling him.

To develop treatments, it takes people who are willing to take part in clinical trials. Lillian would be prepared to participate in the hope she might benefit, as well as contributing to a “bigger picture”.

I think in terms of trials, anybody who’s affected will have their fingers, toes and everything crossed, and I think it’s almost like holding your breath for the people, you know, if you’re a person who knows you’ve got that, the genetic problem, that if there’s a trial that’s trying to silence that gene, you’d really want to get that drug before you’re affected. It’s human nature; if there’s something that’s going to cure a medical problem that you could possibly have in the future, you would do anything to take that.

I know there are risks with trials, that it may, that’s why they’re very careful with trials because they don’t know when they silence one thing what it un-silences somewhere else, what other side effects there are. There’s a danger in trials of taking any test drugs.

But I think this is such a horrible illness I would be prepared, if it was there for me to take part in, I would volunteer myself to do it, because again, it’s a bit like doing GENFI and the cohort, that it’s not, it’s not all about me. My family, they’re still incredibly young and showing absolutely no signs of it. If they are affected this could stop it for them and it will take people who are prepared to take drugs in a testing phase to do it. It’s really important that people are prepared to do it. In a selfish way it could help me live a bit longer unaffected by it, but it’s a much bigger picture, there’s lots of people out there at risk.

Research around MND has progressed in recent years, and there is a lot of work going towards trying to find treatments for people with inherited forms. Lillian’s message is, “it’s coming”.

If anybody doesn’t know about the trials that are going on, I think there is a really, there is a big hope for the future. Things are happening in terms of medical trials. It may not be soon enough for my generation, but the future generations have got a real hope, a real, real hope. We’ve got a slim hope, but the future generations have got a massive chance of science being able to stop them developing the symptoms. If you think that when my dad died in 2003 they didn’t even know what C9orf was, and now they’re trying to do gene silencing on it. And I think the only message I would say to people is, it’s coming.