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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...
To date, scientists have identified single gene causes for around 70% of cases of inherited MND, meaning around 7 in 10 people with inherited MND are able to find out the genetic cause of their disease (MND Association 2021). Genetic testing may be offered to people diagnosed with MND, particularly when it is clear that other family members have been affected by MND or FTD (frontotemporal dementia). Genetic testing cannot be used in isolation to make a diagnosis of MND. A diagnosis of MND can only be made based on a person’s symptoms, by an experienced neurologist.
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Read about experiences of finding out the genetic variant of inherited MND in the family.
People we interviewed who had been diagnosed with MND were then offered genetic testing after their diagnosis. People generally had genetic testing through their consultant, though Sarah had genetic testing as part of a research study and was told that the results could affect what studies she was eligible to participate in. The genetic test involves giving a one-off blood sample. David described the process, “it’s just a simple blood test which is taken. I just went from the neurologist along the corridor”.
All of the people we interviewed who were offered genetic testing after their diagnosis decided to go ahead with the test. John felt sure of his decision to have genetic testing, “when I had the diagnosis, there was no question, we needed to know… it matters to know which faulty gene you’ve got, because that could influence future treatments. But given my mother had it, it was almost certain to be hereditary, and so it proved”.
Other people with MND may not want to find out if they carry a gene associated with inherited MND, and family members sometimes have different views.
One option people might want to consider is data storage. This is where a person gives permission for their blood sample to be stored, so that their family members can later request genetic testing. Some people might prefer this option if they don’t feel ready to have genetic testing or don’t want to know their results at present. People might also choose to store their blood sample in case it could provide useful knowledge for family members in the future, when scientists have discovered more about inherited MND.
Receiving a positive genetic test enables people to understand the cause of their disease, and also confirms the possibility that other family members may have an increased risk of developing the disease in the future. Family members in this situation may have the option of taking a pre-symptomatic genetic test to find out if they have inherited this genetic variant, which can help inform options when having children. Whilst some people may consider genetic testing before or during pregnancy to prevent passing on the gene variant to future generations, not everyone was comfortable with such options or felt this was necessary due to advances in research and the possibility future children would not be affected. People we spoke to saw having genetic testing after their diagnosis as offering valuable information to their relatives.
When she was offered genetic testing after her diagnosis, Alison went home to think about it, and discussed it with her children before going ahead. Like Hugh and David, she felt that knowing if she carried a genetic variant could provide important information for future generations. Other people also talked about or shared their decision to have genetic testing with family members.
Genetic counselling can provide information and support to families affected by inherited conditions, and people with MND may be recommended to see a genetic counsellor before having genetic testing. JW and his wife Jean had two sessions before the test, and another discussion afterwards to talk about the results, which JW felt was handled sensitively. Alison had one session with a genetic counsellor, before receiving her results at her next clinic visit. She found genetic counselling valuable, “[it] really laid out the pros and cons, which I suppose when you’re in a state of mental turmoil, it’s difficult to organise your thoughts…. she helped to do that… so that was good. I think essential to have”. Other people we spoke to were not offered genetic counselling or did not feel they needed it.
The people we spoke to received their genetic test results by letter or from their consultant, either over the phone or in person. Stuart’s wife, Niki, found that the results letter used “really quite complex terms”. She looked up the gene variants mentioned on the internet and wrote to the consultant to get some clearer answers.
People with MND described a range of emotions on receiving their genetic testing results. Some of those we interviewed who tested positive for a common genetic variant felt hopeful and positive about developments in research, like John who was told that his condition was caused by the C9orf72 gene variant. He said, “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. And in fact, the very first of those 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”. However, finding out could also be upsetting and difficult.
Often, people weren’t surprised to receive a positive result because of their family history. As John said, having the test was “confirmation”. Dani was sure that she carried the SOD1 gene variant which had caused the disease in her siblings, but having this confirmed was “the final nail in the coffin”. JW wasn’t surprised to find out that his wife had the C9orf72 genetic variant, “I’m 99% certain at the time that we knew what the letter would say… It was just another of a long line of disappointments”.
For other people we spoke to, genetic testing failed to identify genetic variant responsible for their condition. Hugh felt disappointed to be told he didn’t carry any of the known genetic variants associated with inherited MND, because it meant family members could not consider reproductive options, such as genetic testing before or during pregnancy. He said, “I hoped it would be one of the known gene variants so yeah, we could set about getting rid of MND in the family”. After she was diagnosed in 2012, Alison was only tested for the C9orf72 gene variant (though it is now common for people with MND to be tested for panels of gene variants).
Although Stuart has passed away, Niki plans to keep the conversation on inherited MND and genetic testing open with their children.
Families had different approaches to communicating around genetic testing after a diagnosis of MND. Some people described talking about it within the family before making a decision to go ahead. When his mum was diagnosed with MND, Anthony and his wife were involved in discussions around genetic testing. They wanted her to have the genetic test, which his mum was happy to do. Sam had been keen for their relative to have the test and said, “I was very keen for them to have the genetic test because then it opened up our options a lot… we already knew almost for sure that we had a genetic inherited risk, so knowing which gene it was…. seemed like a logical thing to do for me”. Lexi thinks her mum had genetic testing alongside other investigations when she was diagnosed. She can’t remember whether her mum had the option of not having the test, but thinks it is important to understand.
Louisa and Richard were both aware that their parents were going to have genetic testing after their diagnoses but feel that more time should have been taken to discuss the implications. Richard wasn’t involved in conversations around genetic testing when his mum was diagnosed. He questions whether this should have been discussed with the wider family, as he now has the “burden” of knowing that he could have inherited the C9orf72 gene variant. As Louisa says, “It’s just a blood test result but it’s not really just a blood test result, do you know what I mean?”
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...
People diagnosed with MND may be offered genetic testing to find out if they carry a known genetic variant responsible for the disease, particularly where they have...