William
William is 40 and is a medical worker. He is married with two young children. Ethnicity: White British
William’s dad and grandad died of MND, and he found out at university that there could be a genetic cause of the disease. Although this has been in the back of his mind over the years, he has not sought further support or pre-symptomatic genetic testing.
William’s dad was diagnosed with MND at the age of 45, when William was in his teenage years, and unfortunately died around two years later. William was aware growing up that his grandad had also died of MND, but whether there was a genetic link was not clear. His dad had a genetic test which came back negative. However, when William was at university, his mum sent him a journal article about MND. At this point, he realised that his dad’s negative result did not necessarily mean that he and his sister were saf from the disease, as there are other genes that could be responsible for the disease in his family.
William sought further information and advice about MND and how he could be affected. He saw a genetic counsellor, who told him that his risk was 5-10%, though he questions whether more might be known now than it was then. He was referred to a community psychiatric nurse, but he felt that despite good intentions, these sessions undermined the legitimacy of his concerns. From these experiences, William took away that he should just get on with i.
For William, the possibility that he could be at an increased chance of developing MND has been in the back of his mind over the years. His experiences have affected his approach towards his career. He finds it hard to imagine a long career ahead of him and is reluctant to compromise on his quality of life now to progress professionally. There have also been times when he has experienced low-mood and anxiety. He has questioned the futility of life, and in the past has had suicidal thoughts.
William has not pursued pre-symptomatic genetic testing, as he does not believe it would be beneficial to himself or his family. He highlights the uncertainties around testing; even a positive result would not tell him if or when the disease would develop, or how it would affect him. Even if he could find out this kind of information, he feels that knowing would be pretty gri. In the current context where there is no cure, he would worry about the impact on his mental health, and the implications for other relatives. William might consider genetic testing if his family had strong feelings about it, or if a treatment were to become available.
William spoke to his wife about MND when they were planning to start a family, and they decided not to seek further advice. He now wonders if he should have pushed this discussion a bit further, as she has not experienced the disease first-hand. William also brought up the possibility of genetic counselling with his sister before she had children, to make her aware that there might be reproductive options available, but he does not know if she pursued this further. Although MND is not a forbidden subjec, it is not something he really talks about with his family.
William would like to see clearer processes in place for those seeking information and support around inherited MND. He hopes that healthcare professionals working with people affected by the disease will consider the family context of the person they are treating. There should be resources available for families- including children- who want to talk about what they are going through, with somebody who can understand. He encourages other people in a similar situation to accept help.