Lizbeth

Lizbeth is 51 and works as a young person’s counsellor. She is married and has three children, aged 17, 22 and 24. Ethnicity: White Welsh.

Lizbeth has lived with MND from a young age, losing her grandmother and mother to the disease. She had pre-symptomatic testing and was told she has the C9orf72 gene variant. Coming to terms with this was harder than she imagined, but it no longer defines her.

Lizbeth first experienced MND when she was 9 or 10, when her grandmother developed symptoms. She has some difficult memories of this time, and her grandmother’s death was a profound loss in her life. In the years that followed, Lizbeth learnt that her grandmother was the third of her siblings to have MND. Although there was no genetic information available, the family had a sense that it was hereditary, and thought it could affect other members of the family before the age of 50, as this was the pattern it had followed. Because of this, Lizbeth’s mother marked this occasion with a big party, but in her late 50s developed symptoms. Although the family had some good times after her diagnosis, Lizbeth’s mum had a clear view of how she wanted to live, and chose to end her own life in 2010. Her donation of her brain and spinal cord to research played a small part in the discovery of the C9orf72 gene, which was identified as the genetic variant in the family. Looking back at the family history, Lizbeth has found several relatives who may have been affected by frontotemporal dementia, caused by the C9orf72 gene.

Lizbeth was asked to undergo genetic testing for research but questioned whether this would benefit her. Further, she felt she wouldn’t be able to live with not knowing the result, a condition of the study. However, when pre-symptomatic genetic testing became available for C9orf72, she decided that she needed to find certainty, and a sense of control. Lizbeth also felt that knowing her genetic status would give her daughters solid information in making choices about their futures. Following genetic counselling, she had the blood test. She found waiting to receive the result to be a challenging time.

Lizbeth received a positive result and found that knowing this was much harder than she had anticipated. It took her three or four years to come to terms with this, a period which had a severe impact on her and her family. Lizbeth describes receiving her result as a loss of the future she had imagined. There were times she turned to alcohol and tried to end her own life. However, the family benefitted from counselling, and Lizbeth decided to re-train as a counsellor, which was a turning point for her. Although she felt abandone by the lack of support or follow-up after the test, Lizbeth does not regret her decision.

Lizbeth grew up being told not to have children but decided that she had to live her life for her. She has been open with her children, sharing information around MND in an age-appropriate way. She has tried to make this part of everyday conversation, answering questions around their grandmother’s illness, and more recently sharing information on genetic testing and options for starting a family. Although she does not want her children to pursue testing at this stage of life, Lizbeth recognises this as their choice.

Lizbeth is always aware of MND, and there are times when she questions whether she is developing symptoms. However, generally she has gotten to a place where it doesn’t define m. She finds keeping busy helps and tries to avoid searching for information on the internet, which in the past sent her down a rabbit hol. Lizbeth appreciates the support of her neurologist, who she sees annually for monitoring. She feels that she values life more consciously than she did before and has learnt to live in the present. Lizbeth encourages others with a family history of MND to find people who they can talk to about how they are feeling.

Lizbeth was asked to have a genetic test as part of a research study, but she couldn’t live with not knowing the results. She waited until pre-symptomatic genetic testing for C9orf72 became available on the NHS.

Age at interview 51

Gender Female

Lizbeth has shared information on reproductive options with her children. Her daughter was interested to learn about the possibility of having pre-implantation genetic testing without finding out her genetic status.

Age at interview 51

Gender Female

Lizbeth sees using genetic testing before or during pregnancy as “valid” and “useful”. She points out that testing during pregnancy has been carried out for a long time.

Age at interview 51

Gender Female

Lizbeth describes reading her pre-symptomatic genetic test results as “a little bit anticlimactic”. She didn’t absorb it very well, and it felt surreal for a long time afterwards.

Age at interview 51

Gender Female

After being told she carried the C9orf72 gene variant, Lizbeth had counselling through the NHS. Her counsellor suggested that she might benefit from family counselling, which “really helped”.

Age at interview 51

Gender Female

Over the years there have been times where inherited MND has been a louder or more muted presence in Lizbeth’s family. At the moment, it’s “happily lying dormant”.

Age at interview 51

Gender Female

After being told she carries the C9orf72 gene variant, Lizbeth felt “abandoned”. She was angry about the lack of support after the test, which had an enormous impact on her and her family.

Age at interview 51

Gender Female

Having family counselling helped Lizbeth accept that a positive pre-symptomatic genetic test was a loss of the future she had imagined. It took time to come to terms with the results.

Age at interview 51

Gender Female

In the past, Lizbeth spent too much time searching for information online. It’s important to know where to look, because “at 4 o’clock in the morning… it all looks like a possibility”.

Age at interview 51

Gender Female

Growing up, MND was a “dirty word” in Lizbeth’s family. She learnt what it meant through overheard conversations and was later advised against having children.

Age at interview 51

Gender Female