Anthony
Anthony is 45 and works as a partner in an equine business. He is married and has three children who are 10, 7 and 4. Ethnicity: white British.
Anthony decided to have pre-symptomatic genetic testing after finding out about the C9orf72 gene variant in his family. He received a positive result, but tries to stay positive by following research developments around MND and taking part in studies.
Anthony’s mother was diagnosed with MND after having problems with her ankles, which continued after an operation and physiotherapy. When she was diagnosed, Anthony discovered that her brother had also died of MND, and the consultant discussed the possibility that it could be an inherited form. Following a discussion with her family, she had a genetic test and was told that she had the C9orf72 gene variant. Anthony was glad that a gene had been identified, and that he had the option of having genetic testing himself. Anthony’s mum died in 2018, a year after her diagnosis. Anthony now knows that his grandmother’s death from frontotemporal dementia is also likely to be linked to the C9orf72 gene.
Anthony and his wife discussed pre-symptomatic genetic testing, and he decided that he wanted to have the test. He felt that it was better to know than to live with the uncertainty of whether he carried the gene variant and the ongoing possibility of testing. He emphasised that knowing meant he could do something about i, including making the most of life, and participating in research. Anthony also wanted to find out whether his children could have inherited the genetic variant, so he could plan how to share information with them in the future.
Before taking the test, Anthony had genetic counselling. The process took longer than he expected, but he understands that counsellors have to make sure that being tested is the right decision. A few weeks after having the blood test, Anthony unfortunately received a positive result. He was initially concerned for his wife, who was very upset, and for his mother, who was sad that she had potentially passed on the disease. Although he felt deflate, Anthony tried to keep in mind the reasons why he had the test.
Anthony appreciates the ongoing support from his genetic counsellor, who called a few weeks after he received his result, and again after a year. Anthony and his wife plan to tell their children about the family history of inherited MND, though they feel their youngest needs to be a little older in order to understand it and handle it emotionally. They are planning to seek support from their genetic counsellor when the time comes.
Although it is difficult to think that he or his cousins may be affected in the future, Anthony tries to live in the present and focus on the positive developments in research, which he follows online. He emphasises making the most of life and tries to plan new experiences every year, such as skydiving, and spend more quality time with his children. He has set up a home business, which means he has more time with his family. Anthony is also conscious of his health. He tries to eat well, drink less, and take vitamins. He has completed a wellbeing course, which he feels has helped him manage his emotions. Anthony has been involved with online groups around inherited MND, and finds it useful to share information with others in a similar situation.
Anthony is keen to participate in research. He is part of GENFI and has annual research visits which involve various cognitive tests, as well as lumbar punctures and skin grafts. Although he had complications with one lumbar puncture, he has had several since and is willing to help in any way he can. He has also taken part in the C9orf72 cohort study, and is involved in fundraising around MND. Anthony is hopeful for a treatment or a cure in the future and encourages other families to stay positive.