Louisa
Louisa is in her 30s. She is married and has one young child. She works as a healthcare professional. Ethnicity: white British.
Louisa’s grandma died of MND when she was a teenager. Her mum recently developed MND and frontotemporal dementia caused by the C9orf72 gene variant. Louisa hasn’t yet decided whether to have genetic testing; for now, she emphasises making the most of life.
When Louisa was a teenager, her grandmother died of MND. In the years that followed, she was involved in fundraising around the disease, but didn’t think about it as something that would affect other relatives. In 2018, Louisa noticed her mum had slurred speech. As a healthcare professional, she was concerned. She encouraged her mum to see a doctor and after waiting for various referrals, she was diagnosed with MND. At this appointment, she was offered genetic testing, and had the blood test. Louisa’s mum has also been diagnosed with frontal lobe dementia, a condition which has a genetic link with certain forms of inherited MND.
Following the diagnosis, the family had an appointment with the neurologist over a video call. At the end of this call, he asked to speak to Louisa alone and told her that the genetic test had shown that her mum had the C9orf72 gene variant. Although Louisa has shared the genetic testing results with other family members, she has decided not to tell her dad as she feels it would be too much of a strain on him.
For Louisa, finding out about the gene variant in the family has been difficult. She has found it hard to know what to do with this knowledge. While there are days where she feels able to cope, there are also times where it is at the forefront of her mind. She describes a sense of guilt over the possibility that her daughter, who was born before her mum’s diagnosis, could be affected. It is important for Louisa to get to a place where she can manage this information; she does not want it to impact on her mood or relationships. She has considered seeking professional help, but after mentioning how she was feeling to her mum’s nurse, this conversation was never taken forwards. Louisa would like to see support offered to families affected by inherited forms of MND.
Whilst Louisa initially felt that she would like to pursue pre-symptomatic genetic testing, she is now undecided on if it would be the best thing for her. Whilst it would be grea if she tested negative, she is concerned that receiving a positive result would take away the hope that she might not carry the gene variant. She questions why she wants to know, given that there would be little she could do. However, she feels that she might explore genetic testing further when she is considering talking to her daughter about the family history; if she received a negative result, she would not need to share this information. For now, her approach is to get on with life and live as well as she can.
Although she struggles with feeling unable to control the situation, Louisa tries to find ways to clear her head, such as through running. She focuses on things she can achieve, like supporting her dad in caring for her mum. Louisa wants to prioritise doing things she enjoys, such as holidays and spending time with her family. She plans to create video recordings and written memories for her daughter to be able to look back on.
Louisa tries not to spend too much time looking up information but has sought out credible sources to learn more about the disease. She has read into current research and is hopeful that future studies will work to develop treatments which will benefit people either before or in the early stages of symptoms. She encourages other families in a similar situation to focus on what is important in the present, and to seek support if they need it.