Finding out about inherited MND in the family

This section covers people’s experiences of finding out about inherited MND (Motor Neurone Disease) in the family, including:

  • Finding out about inherited MND through one’s own diagnosis
  • Finding out about inherited MND through the diagnosis of a family member
  • Understanding the implications of inherited MND over time
  • Not realising at first: circumstances that can mask the presence of inherited MND
  • Looking back at past generations: tracing the family tree

Some of the people we spoke to, or their relatives had genetic testing after they were diagnosed with MND to confirm whether they had an inherited form of the disease. People’s experiences of genetic testing after a diagnosis of MND and finding out the name of the gene variant in the family will be covered in more detail in these sections.

Finding out about inherited MND through one’s own diagnosis

Of the people we interviewed for the study some had lost a relative to MND, but only realised after they themselves developed symptoms that it was an inherited form. When John’s mother had MND, it was not known that it could be inherited. John’s neurologist told him that this was a possibility when he was diagnosed. David started to draw his own conclusions.

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”.

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For other people in this situation, it was not obvious at first that their symptoms could be caused by an inherited form of MND; Stuart’s symptoms were very different to his mother’s and Sarah thought it could be “unlucky” that both she and her father had been affected. She only realised she could have an inherited form of MND when she started to look up information after her diagnosis. Alison didn’t know of a family member who had been diagnosed with MND but looking back she remembered her uncle having ALS-like symptoms towards the end of his life, and her mum died of frontotemporal dementia (FTD).

In certain cases, people who are found to have an inherited form of MND after their diagnosis might not have a known family history of the disease, particularly where neurology clinics offer routine genetic testing to all people with MND.

Finding out about inherited MND after the diagnosis of a family member

Following the diagnosis of a family member, some people were told about the possibility of inherited MND by a healthcare professional or another relative, but some started to make the connection themselves before it was confirmed; it seemed too “unlucky”, “ridiculous” or “coincidental” for two or more close relatives to be affected. People described ‘guessing’, ‘putting two and two together’, ‘cogs turning’ and ‘speculating’ as they realised there might be a family pattern.

Karen’s uncle was diagnosed with MND shortly after her mum. She realised straight away that there could be a genetic link, and had to explain this to her family.

So on the 3rd of February, 2014, she went to see a neurologist and was given the results of various tests that she’d had and was told that she had motor neurone disease. I got a phone call from my dad, I’ll never forget that day, I was in the car just going to the hairdressers funnily enough and he said the words “motor neurone disease” and he didn’t understand what that was, and I did and it was just awful.

At that stage we didn’t know that it was hereditary, but we just knew that my mum had it.  And then a month later, my mum phoned me up and said quite naively, “Oh, you’ll never guess what Karen, my brother has got the same thing that I’ve got, he’s got motor neurone disease as well, can you believe that?” And she didn’t realise the implications of what she was saying because obviously the implication was that there was a genetic link. And I had to explain then to her what that actually meant, and she was, “Don’t be ridiculous you know, that’s crazy, that’s stupid you know, you won’t get it and you know, it doesn’t mean that at all”, and she was in denial about it.

But, so once I knew that my uncle had also been diagnosed then I knew that it was genetic, or there was a strong possibility that it was genetic, I mean that was just you know, a ridiculous coincidence otherwise.

And, so, during the course of their illness, they both died within a week of each other in 2016. My mum died on 7 July and my uncle died on 13th, and during the course of their treatment, which was just, riluzole, which is the only drug that’s approved to try and slow things down, and various neuro, neurological appointments and tests and all that sort of thing, they both discovered that they did have in fact the same gene and it was the C9orf72. And so that’s how we knew that there was the genetic, for definite that there was, the inherited form of genetic MND in our family.

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Because Anthony’s mum initially had treatment for a ligament problem, even she did not realise she could have MND at first. However, when she mentioned that her brother had died of MND, “it sort of clicked……alarm bells rang in your brain”. Therefore, it wasn’t a surprise when this was later confirmed through genetic testing.

Finding out about inherited MND in the family was described as “emotional” and “life changing”, and people felt “frightened” and “shocked”. It often meant coming to terms with a relative’s diagnosis, as well as the possibility that oneself or other family members could have inherited a gene variant linked to inherited MND.

Calum was shocked when his sister told him that their father had been diagnosed with an inherited form of MND. He felt “heartbroken” for his dad, but also for his sister and himself.

So when my sister called me that day to say my dad had been diagnosed with it, that was the day that we, we knew it was hereditary. So that was the first inkling of hereditary at all. It was because I think my dad said it was really rare that two people in the same family line next to each other can get a hereditary condition, but, well not hereditary, a random motor neurone disease, because it’s so random, but for two people in the same line to get it next to each other is ridiculous. And that, that was probably the only thing I knew about before my sister rang me and said, “Yep, it’s hereditary”. So yeah, that was it really, I didn’t really, yeah, I just thought it was unlucky I suppose up until that point that my auntie had had it.

I just remember being in the middle of my shift just absolutely heartbroken, not just for my dad but for myself and my sister. And it was massive, it was a huge kick in the teeth because up until that point my health was immaculate, I don’t think I had anything wrong with me, I don’t get any problems you know, and to be told you could potentially be at risk of a disease that could kill you and be horrendous as it does, it’s just shocking, really, really shocking. So yeah, I felt horrible that day.

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Other people did not make an immediate connection between the death of a family member in the past and the current symptoms of their relative; some people hadn’t been told the cause of their relative’s death or didn’t realise that MND could be inherited. Lexi’s grandfather had died of MND, but when her mum was having tests, they didn’t really consider that she could have the same illness, “Maybe we’d mentioned it, but we kind of said, ‘Oh, don’t be so stupid… it’s not even hereditary’”. Even though Paul had started to speculate on the cause of his mum’s illness, it took some time to get a definitive diagnosis. During that time, she “took refuge in that uncertainty”.

After her dad’s diagnosis, Mary was told that her grandma and great aunt had also died of MND. Finding out about inherited MND in the family was a surprise.

When it came to light that my dad had it, I think his sister said, ‘Oh, just like our mum,’ and I was like, ‘What do you mean?’ and he says, ‘Oh, yeah, your grandma died of the same thing as well.’ And then because I used to go to the appointments with him a lot at the hospital and speak to the consultant, who then looks at the family, don’t they, and has… could see that my… I think the consultant that me dad saw at the hospital treated my grandma, so he knew then. And then we asked, ‘Is it hereditary?’ and he said, ‘In some cases, it is, and it looks like it is in your case because of three members of the family.’ Then they were going on about stuff that it might have been to do with… the reason why MND, to do with mining, or… I didn’t really understand.  The consultant was saying it depends on certain areas that you live in. That confused me a little bit.

He knew. He knew because of his experience with his mum, and he’s got two brothers and a sister, so they were all aware as well, I think. So I think once his symptoms started showing, I think they were more aware of what it could be than me and my older sister were. Maybe my older sister were as well, because I wasn’t young, I was 27, but I was the youngest so they kind of kept me out of it a bit. So I don’t think it was such a surprise to him as it was to, like, the rest of the family.

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Some people had been told in the past that MND could not be inherited, though this message had changed over the years. Finding out that her brother, John, had same condition as their mother was an “extraordinary” shock for Maggie; when she was diagnosed 30 years ago, they had been reassured that it would not affect other relatives. Even before much was known about the genetics of MND, some people realised that what they had been told was wrong.

Sheenagh’s family were told that MND could not be inherited, and that it only affected men. She knew that “right away we were getting the wrong information”.

MND came into our lives about 37, 38 years ago, maybe even a little bit more than that. My husband’s uncle was diagnosed and then a number of years later, his brother, that was my husband’s father, he was diagnosed also. Initially, he was told that he didn’t have the disease and obviously that’s what he thought it was, but he was told he didn’t have it so he had a big party to celebrate, and then it turned out that he did have it. So we were told initially that A, it wasn’t inherited, and B, it was only men that got it. But my… those two men, the two brothers, had two female cousins, I think they both lived in Australia, and they both had it. So obviously, we knew that it, it was in the family and it was not only men that got it, so right away we were getting wrong information. On three counts, first of all he didn’t have it, second of all, it was only men that got it, and third of all it wasn’t inherited, so it was all… at that time, they obviously didn’t have an awful lot of knowledge.

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Liz X and her sister had been told it was a “coincidence” that their mother and two uncles had developed MND. It was only when her sister developed symptoms that “the message was changed”.

Understanding the implications of inherited MND over time

It wasn’t always possible to pinpoint a time when people first found out that there was an inherited form of MND in their family. Sheenagh couldn’t say when she realised that her father-in-law and his brother had an inherited form of MND but had a “gut feeling” that it was hereditary. Some individuals had seen or been aware of family members affected by MND from a young age.

Growing up, MND was a “dirty word” in Lizbeth’s family. She learnt what it meant through overheard conversations and was later advised against having children.

At that time it was, the word we used was hereditary and I think I was probably in my late teens where people would talk about, “Well she was the third one to have it so it’s got to, you know”. It stands to reason, my mum would say, that me or my sister will have it. It was…I don’t know, that’s how I learned about it. I suppose because people would, in the family would talk about it, and then there’s this constant conversation that my mother used to have with me, “If she’s passed it on to me, you might have it and then you’ll pass it on to children, so you have to stop it”.

It was, it was something, a dirty word, “inherited motor neurone” in my family for a long time because I think quite typical of the generation I was, I grew up in, talking wasn’t something that happened. So talking would only happen when everybody was drinking, and as a child you’d pick things up that way.

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William’s dad died of MND when he was a teenager. He can’t say how much he understood at the time about the possibility of it being inherited; it wasn’t really spoken about in his family. Robyn had always been aware that relatives had died of MND and remembers hearing conversation about inherited MND at family events. Although she thinks “maybe it’s something I’ve always known”, she never considered that it could affect her immediate family until her father was diagnosed.

Other people knew their family member had been diagnosed with an inherited form of MND, but the implications of this didn’t sink in straight away.

Although she knew that her mother-in-law had an inherited form of MND, it wasn’t until Helen made a joke about the resemblance between her son and his grandma that it “hit home”.

(Text edited by Helen)

At one point my parents-in-law had had this testing done and mentioned that Rich’s mum had a gene, they’d identified a gene, so they knew it was genetic and it’s likely that her father had the same genetic mutation, as he also died of motor neurone disease, and her father’s mum or dad. I’m not sure which one it was. It was not really discussed, you know… It was too upsetting. She was very, very ill at that point and Rich’s dad was really upset so it’s not something we even talked about. It was just sort of like, “Oh, okay”, and we sort of parked it in the back of our brains to revisit at another time as she obviously didn’t really want, I mean, she couldn’t really speak, which obviously made it a lot harder to talk about things, but I knew she didn’t really want to.

And at one point, I remember being there with the kids and [son], our son looked very like her, with blond hair and blue eyes and I was joking around saying, “Oh, it’s in the genes. Oh he’s so like you” you know, “It’s in the genes”, and my mother-in-law got really upset and I think that was the real first time that it sort of really hit home that oh, gosh this could affect our kids. It’s not just something that’s for her or even for Rich or Rich’s brother or… It actually could, you know, and I hadn’t really… She obviously had been thinking about all of that without being able to maybe talk about it or express it or not, not wanting to talk about it and… but it was obviously on the back of her mind, because she got so upset when I said that, and I was like… Yes, that was like a sort of defining moment in thinking “this is something that’s going to affect all of us in one way, you know at different times in our lives and maybe never, hopefully, but you know.” That was, yes, so that was sort of a real moment of realising what was going on.

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As Helen points out, processing the possible implications of inherited MND for oneself and other relatives can take some time. When her father was diagnosed, Mary doesn’t feel she fully understood the disease, because she hadn’t seen anyone go through it. She said, “It didn’t even enter my head that that could happen to me; you were just more concerned with him. And then later on, you get on with your life again, it kind of hits you that, ‘Oh, I might go through that,’ and then that’s when I think panic set in a little bit”.

Like Mary, other individuals we interviewed had provided care and support to relatives with MND, and described how at the time of their family member’s illness, their focus was on their immediate needs. When her great uncle was diagnosed with MND shortly after her grandmother, Georgia Y remembers thinking that it couldn’t be a coincidence. Although she describes thinking “oh my god”, she can’t remember a particular conversation where she became aware of inherited MND.

During her grandmother and great uncle’s illnesses, Georgia focused on “dealing with the situation in front of you”. She has since thought more about the implications of inherited MND.

And to be completely honest with you, I don’t know when it actually came about that they sort of finalised or gave the diagnosis that it was inherited because I’m sure that my mum would’ve been party to those conversations. And my mum has always been very conscious of not wanting to concern me too much because of the potential impact that could have, and so I can’t even specifically pinpoint when my awareness sort of became of the fact that it was inherited. I’d say probably more after their deaths, because at the time you’re just kind of dealing with the situation that is in front of you and helping them.

And since they died, my mum has been involved in lots of different research, not only for inherited MND, but other neurological studies and things like that with various universities and hospitals. And so I think my awareness to the sort of… to the fact that it is inherited is growing more, I’d say, in the aftermath, seeing the way that my mum sort of dealt with it and processed it, and the actions that she’s taking now.

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Find out more about experiences of telling children about inherited MND in the family.

Not realising at first: circumstances that can mask the presence of inherited MND

There are many reasons why it may take some time for people to realise there is an inherited form of MND in the family. This includes where families are small, where relatives have died young, or were given a different diagnosis, especially in the past when MND and possible inheritance were less well understood.

Some of the people we interviewed had relatives who had been affected by other neurological illnesses, including Frontotemporal dementia (FTD). Not everyone knew there was a genetic link between MND and FTD, meaning they didn’t make the connection that there could be a genetic condition in the family at first.

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.

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Families being estranged or geographically distant can also hide the fact that there is an inherited form of MND in the family. JW’s wife Jean had been undergoing tests to determine the cause of her symptoms when they got a message on a family tree website asking if her family had been affected by MND. Although they knew her father had died of MND, it was a shock to find out that several other relatives had been affected. Jean was tested for the C9orf72 gene variant, which came back positive.

Looking back at past generations: tracing the family tree

After finding out about inherited MND in the family, some people were curious to know where it had come from. People we spoke to were interested to research their family history and sometimes looked into their family tree. Not everyone could find other cases of inherited MND in the family, but some people identified relatives diagnosed with MND, or relatives who they thought may have been misdiagnosed or diagnosed before MND had been identified as a condition. Some of the individuals we spoke to were aware of relatives being diagnosed with other illnesses, such as dementia, and questioned whether this could be linked.

For David, researching the family tree was also about finding out if other relatives could be at an increased risk of developing MND in the future. He hoped that having such conversations could help prevent the disease in future generations (so family members could make informed decisions on having children and consider options around genetic testing before or during pregnancy). He sees this a “valuable legacy” to leave behind.

Inherited motor neurone disease (MND)

{media 98357} In this section you can find out about the experiences of families living with inherited forms of motor neurone disease (MND). MND is...