Understanding family experiences of inherited motor neurone disease (MND) - a qualitative study

Understanding family experiences of inherited motor neurone disease (MND) - a qualitative study

PhD Project - Jade Howard

Motor Neurone Disease (MND) refers to a group of adult-onset neurodegenerative conditions. In a minority of cases, the disease is passed down in families. Whilst scientists are discovering more and more about inherited MND, and some people can be tested for particular genetic variants to find out the cause of their disease or whether they are at risk of developing MND in the future, a lot remains unknown.

This research investigates the experiences of people diagnosed with an inherited form of MND, those who may be at risk of developing it in the future, and other family members. It explores experiences of living with genetic risk and the impact this has across different aspects of people’s lives and decisions. It looks at how families navigate issues including genetic testing, reproductive choices, caring roles, and communication around inherited MND. It also seeks to understand how families deal with genetic information and what kinds of support and information would be useful to them.

This research uses a range of qualitative methods:

  • Literature reviews of qualitative, social scientific research on: experiences of MND; experiences of inherited MND; and experiences of Huntington’s Disease as a parallel adult-onset inherited condition.
  • An analysis of postings on an online forum for people affected by MND, focusing on questions and concerns faced by people affected by inherited forms of the disease.
  • Semi-structured interviews with 35 people affected by inherited MND, including people who have been diagnosed with inherited MND, people ‘at risk’, and partners/ family caregivers.

In light of the COVID-19 outbreak, the majority of interviews were carried out remotely.

This research will contribute to understandings of experiences of inherited MND and other hereditary conditions. Findings will be shared with families and healthcare professionals.

This PhD study is funded by the Institute of Applied Health Sciences, University of Aberdeen. Interviews from this study have been used to develop a new resource on family experiences of inherited MND on the award-winning website healthtalk.org (https://healthtalk.org/introduction/inherited-motor-neurone-disease-mnd/), funded by the MND Association (Ref: Locock/Sept19/941-794).

Supervision: Professor Louise Locock (University of Aberdeen), Dr Fadhila Mazanderani (University of Edinburgh), and Dr Karen Forrest Keenan (University of Aberdeen).





Howard J, Mazanderani F & Locock L. (2021). Life ‘on high alert’: how do people with a family history of motor neurone disease make sense of genetic risk? insights from an online forum. Health, Risk & Society, 23:5-6, 179-195, DOI: 10.1080/13698575.2021.1946488