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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...
This section covers people’s experiences of finding out about inherited MND (Motor Neurone Disease) in the family, including:
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.
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.
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.
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.
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.
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”.
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.
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”.
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-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.
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.
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.
Find out more about experiences of telling children about inherited MND in the family.
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.
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.
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.
{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...
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...