Being diagnosed with an inherited form of MND

We talked to people about their experiences of being diagnosed with an inherited form of MND. This section covers:

  • Having tests and investigations
  • Thoughts about what could be wrong
  • Feelings around the diagnosis and knowing what to expect
  • Telling family and friends about the diagnosis

This section focuses on experiences of being diagnosed with an inherited form of MND, but the people we spoke to had many experiences and issues in common with others diagnosed with the disease.

Having tests and investigations

Reaching a firm diagnosis of MND can sometimes be a long process, as everyone is affected differently, and other conditions might have to be ruled out first. Whilst Liz Y was told she had MND around 3 months after noticing something was wrong, for other people it took a lot longer to receive a definitive diagnosis. It is still common for diagnosis to take more than a year in some cases.

Stuart’s symptoms were very different from his mother’s and at first he believed he would get better. He accepted he had MND after treatment for other conditions was unsuccessful.

I had never considered inherited MND. My experience has been very different from my mother’s. In February 2015 I was diagnosed with Guillain-Barré Syndrome following gastroenteritis. The neurologist said, “I will get you better”. I had intravenous immunoglobulin therapy immediately on diagnosis and on other occasions, I had high dose steroid treatment, but nothing worked, and the diagnosis was changed to Chronic Inflammatory Demyelinating Polyneuropathy (CIDP). I had plasma exchange on numerous occasions and chemotherapy. Despite all the many treatments there was a continued increase in disability to the extent that I became totally immobile and needed a powered chair, hoists etc. etc., I always believed I would get better. Positive mental attitude! No negativity!

I developed pneumonia in 2017 and the neurologist said we had to start thinking in terms of not getting better & the probability of an MND diagnosis. I had a second opinion appointment & I finally accepted the diagnosis of atypical MND after that. Genetic testing was suggested but it came back negative for the gene type they were looking for.

After I got the diagnosis of MND I did have to consider inheritance because testing was the first thing the second opinion consultant mentioned. I was very concerned for my sons and for my grandchildren.

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First symptoms of MND can vary a lot between individuals. People noticed a variety of early symptoms relating to muscle weakness, often with wasting, e.g., tripping over. Some noted fasciculation (muscle twitches or ripples under the skin) or increased breathlessness when exercising or being very active. Some people we spoke to initially put their symptoms down to alternative causes such as work injuries or getting older.

People sometimes had to wait several months for a referral to a neurologist, including Sarah and Dani who paid for private appointments to be seen more quickly. Neurologists carried out various tests and investigations, including electromyography (EMG). For some people, revealing their family history of MND or FTD helped in the diagnosis process.

Telling Ken’s neurologist that his brother had died of MND caused “alarm bells” and prompted further investigations.

Where do we start, really? Well, ten years ago Ken’s brother died of MND. He had it for five years. It affected him very differently to Ken. We didn’t know at that time that it was, there was a hereditary strain, so when Ken was diagnosed it was sort of a real shock. Ken had been going to the hospital with problems with his sinuses, because he was all, felt like he had trickling down the back of his throat, and that was getting worse. So, he’d been going to the hospital to have various head scans and X-rays and all that sort of thing.

 

But then in 2005, about sort of September time, he started, if he was eating anything, he would involuntarily cough. And so, while he was at work, he always took a packed lunch. And he got to where he would go to lunch later so that he didn’t have to sit with anyone, because he knew that he’d start coughing. And we just put it all down to all this like phlegm he was building up in the back of his throat. And we had a hospital appointment and Ken happened to mention – and he sort of piled it on a bit, really, because we felt we wasn’t getting anywhere with the hospital. And so, you know, we thought if he made it sound – well, it was getting bad – but if we made it sound worse they might speed things up. And so Ken sort of said about his coughing food and that, and then they said, “Was there any neurological problems in the family?” So, we mentioned John. Well, with them it sort of started sending out alarm bells. And the doctor got up and went and brought some other people in and they sort of gave Ken a, got him to do various things, didn’t they, with your arms and that. And, and then sort of they started looking up on their computer. And I said, “Well, MND isn’t hereditary.” And the doctor said, “Yes, it can be.” It’s a very small percentage, apparently. But they would send Ken for tests and things to confirm it.

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Thoughts around what could be wrong

Where there is a family history of MND, people may have seen other relatives affected by the disease before their own diagnosis. A few people we spoke to knew that MND “ran in their family” and that they had an increased chance of developing symptoms themselves. Dani knew what was wrong because several of her siblings had died of MND, caused by a SOD1 gene variant.

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.

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Liz X went to her GP soon after noticing something wasn’t right. Although part of her had been tempted to ignore her symptoms, she feels that having an early diagnosis enabled her to make the most of the time she had left and start taking riluzole as soon as possible.

Some people had seen a relative with the disease but didn’t know that it was an inherited form. For these people, their diagnosis marked the point where they realised that MND was more common in their family. Not everyone considered MND as a cause of their symptoms at first, especially where their experiences were very different to a family member’s. Others suspected that they could have MND, and recognised symptoms they had seen in relatives.

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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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.

Well, my mother had motor neurone disease and she died 30 years ago, and I saw how it went with her all the way through. And it, the disease in her lasted about three years and at the time it was not thought that MND was hereditary at all. So when I got first symptoms in 2017, I discounted MND as being a cause. And it took nine months before I got a surprise diagnosis, and it was in fact MND. Of course that caused a stir in my family. I have five brothers and sisters and it started them all wondering.

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Sarah didn’t initially consider that she could have an inherited form of MND; it could have been “unlucky” that both she and her father had been affected.

Well, initially, my father had MND 32 years ago, and as he was the only member of the family – to our knowledge – to have had it, because lots of other members of the family died from cancer, there was no suggestion that his was inherited. And at the time, there was not much information he was getting, so it didn’t occur to us until my weakness started developing last March. That was 2019. And as a paediatric intensive care nurse, I did do quite a lot of lifting, so I initially thought I’d injured some nerves in my arm and given myself a shoulder injury from lifting. And it wasn’t until the arm became weaker and weaker, and after being on holiday it was getting harder and harder to use my fork in that hand, I decided to go for testing to see if it was nerve damage, or in my mind, it was coming to be MND by that time.

So it sounds like when your dad was diagnosed it, it wasn’t something… was it something you even thought about, or was it something that you didn’t even consider until a lot later, about it being inherited?

It didn’t occur to me it would be inherited until I, until I started reading when I’d been diagnosed, because it, it could have just been unlucky. I could have had a different gene.

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In Hugh’s case, his aunt was the only family member he was aware had been affected by MND before his own diagnosis.

Being diagnosed with MND “wasn’t a huge shock” to Hugh; his maternal aunt had died of MND and his mum was diagnosed with another neurological condition shortly afterwards.

Prior to the admission to the ward, they hadn’t mentioned MND; they just said they needed to do more tests. But it had already been going through my mind that it might be MND, you know? Having, I suppose as everybody does, you go searching on the internet to try and understand your symptoms as well. And you know, reading about foot-drop and how foot-drop could be, can often be, you know, an initial symptom of MND. It got me wondering, and obviously with my aunt’s history, it started to make me think whether this was what… it was a possible diagnosis, anyway. So it wasn’t, you know, by any means a huge shock when the neurologist said that he was pretty certain it was MND.

My mother, however, who was still alive at that time, did have a neurological condition which hadn’t been, you know, securely diagnosed at that time, but they thought it was some kind of Parkinsonism or possibly … now, the condition is temporarily eluding my, the name of it has kind of gone. The one that makes you fall over backwards. [pause 4 secs] Oh, it’ll come back to me. As I say, we weren’t clear exactly what the condition was, but it was clearly a neurological condition.

Was it progressive supranuclear palsy? Was it that?

That’s the one, PSP, yeah. It was only securely diagnosed after she died, when they did an autopsy and diagnosed it as that.  But we only got the results from that I guess about the beginning of this year. Mum died in May 2019, just a couple of months after I was diagnosed, but it took a while for the autopsy to be done and the results to come back. At that stage, the consultant said although there was no further, you know, known link between MND and PSP, he felt that, again, the chances of there being… because in his experience, PSP was even more unusual a condition than MND. He felt that having, you know, two relatively rare neurological conditions in people so closely related, plus my aunt’s diagnosis, was all far too much to be just coincidence, basically.

Anyway, even before my mother’s diagnosis then, as you might expect, he – because of the link with my aunt – he had referred me for genetic testing to look to see whether I had any of the known gene variants which were linked with MND.  They took some time to come back of course, but by late 2019, he was able to tell me that no, I didn’t have any of the known variants, I was one of the, whatever it is, 30%, 40% of people with familial MND who don’t have a known gene.

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Some of the people we interviewed reconsidered their family history in light of their own diagnosis, especially where they had seen relatives with MND-like symptoms. Alison had memories of her uncle having mobility problems at the end of his life, but it wasn’t until she developed symptoms that she thought about the possibility that he could have had MND. She did not initially realise that her mum’s frontotemporal dementia (FTD) could be connected to her diagnosis of MND.

When she was diagnosed with MND, Alison was told that she could also get frontotemporal dementia, from which her mum had died. The way she was told made a difficult diagnosis “a lot harder to take”.

When did that kind of realisation come that maybe this was something that was not just sporadic?

Well, I think with my MND consultant’s assertion that she thought when we were going through family history and I was telling her about mum’s dementia, and she was on to that straightaway. And I suppose I went home and thought about it a bit and thought, you know, what about my great uncle? Do you know, I can remember, because his decline was so rapid and he worked for what was then British Railways, as my grandfather did, and the quick-fix solution to an accessible property in those days was an old railway carriage. You know, like a little bungalow, really, you know, all converted and what-not. That was the quick-fix solution to his mobility problems.

I had no inkling about the link of frontotemporal dementia with MND, I just hadn’t thought about it. But when my consultant mentioned it as a link, cogs started to click around.

She’s delivering a diagnosis of MND, and then effectively she’s saying to me, “Oh, yes, and you might have frontotemporal dementia like your mum as well, you could get, you know, both,” you know [laughs]? And I’m thinking, “Oh, god, great.” You know? It was as if she had blinkers on and it was the pure science of the situation was all she could see, she couldn’t see any further than that. It makes a very difficult diagnosis a lot, lot harder to take.

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Although she knew she could have an inherited form of MND, this wasn’t Alison’s focus at first, “It’s literally, ‘How long have I got?’ And you get around to the niceties, if you like, of the genetics and why, once you’ve got over ‘Am I going to be dead in six months?’”

Feelings around diagnosis and knowing what to expect

Although for some people being told they had MND “confirmed what I already knew”, for others receiving a diagnosis was a “terrible shock”, even where it was known to be in the family. David recommends taking a family member to the appointment and making a recording of the consultation, because “you won’t take in everything else”.

For people who had seen family members with the disease, it could be especially difficult. Dani led an active lifestyle and had never imagined that she would develop MND. Knowing how the disease could progress was “the most terrifying thing”. She felt alone and appreciated family and friends getting in touch. Chris described how her husband Ken’s diagnosis was very emotional for them, as they had seen how MND had affected his brother. Because Liz Y’s father and uncle were older when they became ill, she had always imagined that if she were to develop symptoms, it would be in later life, but she was diagnosed in her thirties.

Because her dad and uncle had died of the disease, Liz Y understood the “enormity” of her MND diagnosis straight away. This was helpful in some ways and difficult in others.

Yeah, so, I think with, when I was diagnosed having had the family background and having the familial side has meant that it did let me take on the enormity of it straight away, and not really – I didn’t go through a denial phase. I knew that this was for real, and it kind of made sense, and that – “Get on, get on living”, you know. Time really is limited. But also look at what you can still enjoy. You know, I remember holidays with my father when he was ill with fondness and drinking glasses of wine on the patio with him. So, I remember many good times when he was ill, and that helped. But then on the downside you do know the enormity of it, and you do know that it is very real, and it is hard. And so, it’s, having familial, I think, and experience of it first-hand within the family is very, it’s helpful and it makes it harder as well. Yeah, it’s very interesting.

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People we spoke to described how their diagnosis disrupted their hopes and plans for the future. Hugh and David both said they had anticipated long lives where they could continue doing activities they enjoyed. Whilst some saw MND as the “worst diagnosis”, and hoped that they might have a different disease, not everyone felt the same. Hugh had lost his wife to cancer and after seeing how quickly her condition had deteriorated, he was relieved that he didn’t have cancer too.

In spite of their feelings around the diagnosis, some of the people we spoke to felt relieved to know the cause of their symptoms, so they could make the most of the time they had and plan for the future (including putting in place plans for care and support).

Because we spoke to people with inherited MND, reactions to diagnosis also included feelings of guilt, upset and worries for relatives, as people realised that other family members, including their children, could have an increased chance of also developing the condition. However, people also emphasised that their relatives might not develop symptoms and felt hopeful there would be a treatment or cure in the future.

Telling family and friends about the diagnosis

People had different approaches to telling others about their diagnosis. It wasn’t always a shock or a big announcement, as people sometimes described having kept family members updated over the process of having tests. For some, sharing the news with other family members, friends and colleagues was difficult and upsetting.

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.

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Liz X decided to tell her colleagues soon after she found out her diagnosis. It was just before the start of the school holidays and she wanted to “get that over with” and give them time to deal with it. Sarah also told her close colleagues soon after finding out, so they would understand the reason for her symptoms. Hugh told his friends about his MND diagnosis but only tended to talk about the familial element with close friends, to “share the burden”.

Where MND runs in the family, sharing a diagnosis can be particularly poignant. Family members may have seen relatives with MND in the past or realise that they or other relatives could be affected in the future.

For Liz X, being diagnosed with MND brought back memories of caring for her sister. She found it hard to tell her children, who had seen their aunt die of the disease.

And then round about 1997 I started having problems with my legs feeling heavy, and by the time I finished work, walking home was a real effort. And at night I had muscle cramps and twitchings. And I was running for the bus one day with the children and my, both knees gave way. And I suddenly started thinking, “This, is it not like the symptoms my sister described?” And I remember phoning her husband up and having a chat to him. And he said, “If it is motor neurone disease, you know better than anybody that you need to know sooner rather than later.”

So I went along to my GP, who was wonderful. And he straight away said he didn’t think it was, but given the family history he would refer me to a neurologist, who would put my mind at rest. Six months later I went to a neurologist, who said the same as my GP, “I don’t think its motor neurone disease, because you’re not describing any muscle weakness as such.” But he ordered EMG tests. And when I had the tests a letter came that I had to go back to the hospital, and I knew then that it wasn’t good news. He told me it was motor neurone disease and he was very sorry, but he would refer me to another neurologist, who would do another check. So I was referred straight away and she, my neurologist confirmed again that it was motor neurone disease. And I remember saying to her, “It’s not. If I hadn’t have told you my family history you would have done more tests. You’re not looking for anything else.” And, but unfortunately I think I just wanted it to be anything else other than motor neurone disease. Having been a carer, I already knew too much. So, and the initial reaction was that I would have eighteen months and then that would be it. And that was, every other member of my family has gone in such a short time.

And the hardest thing, I think, was telling the children. Because if it’s not in the family you can choose how much information you give out to your family. But because my children had already seen their auntie [name] in a wheelchair and subsequently die, as soon as I told them I had motor neurone disease they knew what it was. And their initial reaction was, “That’s what auntie [name] died of.” And there was a few tears, and I promised them that I would fight it, it wouldn’t be the end. And so far I’ve managed to try and keep going and feel a positive attitude. But it is hard when you already know what’s coming.

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Dani and her sister were diagnosed in the same week, which was a shock to the family who felt worried about who could be diagnosed next. Telling her children about her diagnosis was “horrible” and her daughter was worried that she could have inherited the gene variant. John let his siblings know about his diagnosis straightaway and told them that it was likely to be an inherited form, which was later confirmed through genetic testing. Other people we interviewed also talked about their experiences of genetic testing and sharing the results with family members.

Understanding genetics in inherited MND

We spoke to people about their understanding of genetics in inherited MND. This section covers: Finding information on the genetics of MND Understanding genetics in...