Aberdeen PhD student's research on experiences of inherited MND

What did your PhD focus on?

My PhD is about family experiences of inherited forms of MND and I’ve been focusing particularly on the experiences of relatives with an increased chance of developing the disease.

I interviewed people with MND, partners and family members about living with MND in the family and the issues and decisions they faced.

What did you find out in your interviews?

Interviews highlighted the many different ways individuals found out about MND in the family. Generally, knowledge of being ‘at risk’ had a level of emotional impact, and was described as something that is ‘always in the back of your mind’. However, family members sometimes felt more anxious or preoccupied at certain points such as around genetic testing, when getting closer to the age when other relatives were diagnosed, or when noticing unusual sensations/ possible symptoms.

Predictive or pre-symptomatic genetic testing was another prominent topic. People I interviewed had different attitudes towards this and the decision involved many factors, based on priorities, goals, beliefs, and family circumstances. For those who decided to have the test, receiving results (whether positive or negative) was met with a range of emotions and although it could take time to process and adapt to, this knowledge often helped people move forwards with their lives and plans.

Generally, family members used many different strategies to cope with worries around inherited MND. Seeking professional support could be helpful, but not everyone felt there was adequate information and support available. Support should be open-ended as it is often hard to predict when it is needed, and the support individuals require may change over time.

Whether they knew their genetic status or not, experiences of inherited MND often shaped people’s attitudes to life, priorities and perspectives and some felt more focused on the things that were important and living well in the present. People felt positive about advances in research and clinical trials and hoped this progress would continue in the coming years.

Have your findings been published?

I’ve presented the work at several conferences and hope to write some papers in the coming months. Thanks to funding from the MND Association, findings from the interview study have been used to develop a new resource on inherited MND on the healthtalk.org website, which aims to provide information and support to patients, families and healthcare professionals based on the lived experience of inherited MND. The development of the website was supported by the Universities of Aberdeen and Oxford, the DIPEx charity, and an advisory panel. It can be found at healthtalk.org/Familial-MND.

So you’re just finishing up the PhD, what’s next?

I have recently moved to a new post at SITraN, the University of Sheffield. I will be working as part of a team doing research on genetic testing in MND, including interviews, observations of consultations, and a survey. This work will inform the design of a patient decision aid to support people with MND and families to make informed choices around genetic testing.

Is there anything else you would like to add?

Just a thank you to everyone at the Euan MacDonald Centre for the support over the years.

Everyone at the Euan MacDonald Centre wishes Jade all the best with her future research.