Finding out the name of the gene variant in the family

This section covers people’s experiences of finding out the genetic variant of MND in the family, including:

  • Routes to finding out
  • Feelings on finding out the name of the gene variant
  • “If it’s going to be any gene, that’s probably the best one to have”: feelings around the genetic variant in the family
  • Not knowing the genetic variant of inherited MND in the family

Some people knew or suspected there was an inherited form of MND in the family before finding out that a gene had been identified.

Routes to finding out

People we interviewed found out the name of the gene variant in the family through various routes. Some people found out through having genetic testing after their own diagnosis. In certain cases, people in this situation might not have a known family history of MND, particularly where neurology clinics offer routine genetic testing to all people with MND.

Others found out through a close relative being tested; people were sometimes told by a family member or were present when a relative with MND was given the results of their genetic test. A few individuals found out through more remote family members getting in touch. After her cousin was diagnosed with MND, Lillian received a letter from the cousin’s partner saying that she’d had genetic testing, which showed she carried the C9orf72 gene variant.

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”.

Some people were told the results of their relative’s genetic test by a healthcare professional. Kelly and Jade were told by their genetic counsellors, who had been given permission by a family member to share this information. Because Sam’s relative died before their genetic test results came back, Sam was given this information directly.

Being told the genetic variant responsible for MND in the family was “more of a bombshell” than Sam expected.

Another person was given the results of her mum’s genetic test after a virtual appointment with her consultant. He asked her to stay behind and told her that her mum’s MND and frontotemporal dementia (FTD) diagnosis was caused by the C9orf72 gene variant. She agreed with him that it would be best to wait to share this information with her dad, who was under a lot of pressure as a primary caregiver. Other people also talked about sharing genetic test results after a diagnosis of inherited MND.

Talking about inherited MND in the family can be difficult, and a few people such as Paul and Adam  described how a gene variant linked to the disease had been identified in a relative, but they weren’t told about it at the time. Adam found out after asking directly and Paul  when a close family member was diagnosed.

Although her cousin had genetic testing which confirmed she had an inherited form of MND, Paul’s mum did not share this with him until after she was diagnosed too.

When his mum was diagnosed with MND shortly after his aunt died of FTD, Adam joined an online forum to find information about how to support her. Through talking to others, he “pieced things together”, and realised there could be genetic condition in the family. He went to his mum with questions, and she told him that she had previously tested positive for the C9orf72 gene variant. He realised other members of the family including his grandfather and great aunt had also been affected.

Other people we spoke to learnt the name of the gene variant through overhearing conversations. Not everyone could remember how they found out.

Whilst some like Lexi were keen for relatives with MND to have genetic testing, a few people felt that such decisions had been made without giving enough consideration to the possible implications for family members, who then had the knowledge that they could have an increased risk of developing the disease.

Feelings on finding out the name of the gene variant

People described a range of emotions on finding out that a gene variant linked to inherited MND had been identified in the family. Receiving the news that they or other relatives were at an increased genetic risk of developing the disease in the future was a “bombshell” for some. Even where they had suspected it, people described knowing for sure as “shocking”, “upsetting” and “scary”. Whilst Lillian felt knowing the name of the gene made it feel “real”, Jade thought this made it “less scary”.

Finding out the name of the C9orf72 gene variant in her family makes it “less scary”. Jade feels reassured that it is known about and being targeted by research.

Given their family history, some people weren’t surprised to be told that a gene variant had been identified; they felt this just confirmed what they already knew. Although she “knew what was coming” before she was told, Louisa felt that knowing for sure that her mum carried the C9of72 genetic variant “took the hope away” that it could have been a coincidence. For Dani, finding out about the SOD1 gene variant in the family felt like a “distant thing” at first.

Not everyone realised that there was an inherited form of MND in the family before finding out the results of genetic testing. After Georgia’s mum and aunt were diagnosed with MND, the hospital involved in their care carried out genetic testing. Georgia Z didn’t know much about MND and didn’t realise it was inherited until they got the results. She describes this as “surreal”, “I just couldn’t really believe out of all the families in the world, it was ours”.

Although there could be difficult emotions, some people saw benefits to knowing which gene associated with MND was in the family. Adam said, “You have to be realistic and pragmatic, so I think the hopelessness and the anxiety are definitely there, but there’s also a kind of a proactive instinct that I had to learn about things early, how things would progress, what steps we can take”. Louisa felt a bit conflicted, “I guess it’s better to know so I can try and do something about it… I have absolutely no idea what I can do about it, apart from be involved in research and fundraise as much as I can…. although I’m probably motivated enough to do it anyway”.

The identification of a gene variant linked to inherited MND also meant family members could consider pre-symptomatic genetic testing to find out if they had inherited it. Anthony was glad to have this option after finding out his mum’s condition was caused by the C9orf72 gene variant. Some people, like Harriet were considering genetic testing before or during pregnancy to avoid passing on the gene variant to a future child, though not everyone we talked to felt this was important or necessary. Individuals sometimes felt knowing could help them or their relatives make informed reproductive choices.

Other people knew that their family member had been diagnosed with an inherited form of MND, but they didn’t think too much about the inherited aspect until later on.

When his mum was diagnosed with inherited MND, Richard “boxed it off” and focused on supporting her. After she died, he wrote to her neurologist to ask what gene had been identified.

Richard points out that knowing he could have an increased chance of developing MND has been a “burden” over time, though he has managed to get to a place where he doesn’t focus on it.

“If it’s going to be any gene, that’s probably the best one to have”: feelings around the genetic variant in the family

C9orf72 was the most common gene variant amongst the people we spoke to, and a few came from a family who had been affected by SOD1. Not everyone could remember the name of the gene in the family, though some people knew they had been told. In other families, a genetic cause of the disease had not been identified, which will be covered below.

The identification of a known genetic variant in the family like C9orf72 or SOD1 could seem a “positive thing” and “almost a relief”. People emphasised ongoing research around inherited forms of MND, which they hoped might mean that they or their family members could benefit from a treatment or cure. John described finding out his condition was caused by the C9orf72 gene variant: “That seemed a little bit of good news because it’s the most common mutation, and there’s a huge amount of research going on into treatments. In fact, the very first of those which with real promise are being trialled around this country right now. So, there is hope, maybe not for me, but for siblings and their children, there’s definite hope”.

For people with MND, it could feel almost like a race for an effective therapy to become available. David had “mixed feelings” on finding out that he had C9orf72-related MND. He said, “My challenge is can I survive long enough to experience the benefits of the research into my genetic mutation?”

Knowing the name of the genetic variant in the family enabled people to look into it further, by researching on the internet or reading scientific papers. Kelly felt that knowing this information “opened up a door for me to understand it”. For Helen, knowing led to new questions.

Helen had never considered that there might be multiple genes which could cause MND. Finding out that her mother-law had the C9orf72 genetic variant “opened a whole world of questions”.

Whilst some people were very active in seeking information around inherited MND, other people we talked to didn’t want to know too much.

Not everyone felt it was important or useful to know the name of the gene variant in the family. Maggie didn’t have any hopes for her brother’s genetic test at the time. She said, “It really made no difference, he’s got motor neurone disease, I knew the pathways and the rest of it was just noises in the wind”. For JW, “there was nothing positive at the time”; his focus was on looking after his wife Jean. Not everybody knew much about the different genes associated with inherited MND.

Not knowing the genetic variant of inherited MND in the family

In some families, the genetic variant of inherited MND may not be known, either because genetic testing was not carried out (it may not have been available at the time a relative was diagnosed) or because tests for all the known gene variants came back negative. In cases like this, people may still have to assume that there is an inherited form of MND in the family based on a strong family history.

Some people didn’t think that their relative with MND had had genetic testing. Angi doesn’t remember genetic testing being offered when her mother and sister were diagnosed with MND in a short space of time. As her father also died of MND when she was young, she would like to have known if there was a genetic link. Mary lost her father and grandmother to MND but doesn’t think her father had genetic testing; only the SOD1 gene variant had been discovered at the time of his illness. Although Mary is not sure she would want to have pre-symptomatic genetic testing, part of her wishes a gene had been identified.

However, not everyone wanted to know the genetic variant that could have contributed to the disease in their relatives; William didn’t feel that knowing would be helpful.

William’s dad died of MND when he was a teenager but tested negative for the SOD1 gene variant. After reading a scientific paper some years later, William realised that he could be at risk of developing the disease.

Some people with MND, like Hugh and Stuart, had genetic testing but received a negative or an inconclusive result. Hugh felt “disappointed” that a specific gene had not been identified, as it meant family members could not consider reproductive options, such as genetic testing before or during pregnancy. Stuart felt “relieved” that his results were inconclusive, but his wife Niki found it a difficult position to be in.

Niki’s husband Stuart was relieved when his genetic testing results were inconclusive, but she finds the uncertainty difficult to deal with.

People’s experiences of receiving a negative result are explored further in the section on genetic testing after a diagnosis of MND.

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...