Summary

Understanding family experiences of inherited motor neurone disease – a secondary analysis of qualitative research to develop a new resource for patients, families and clinicians on the Healthtalk website

Motor neurone disease (MND) is a rare condition, the causes of which remain uncertain in most people with the condition. However, in a small number of cases the disease has been observed to affect several members of one family, suggesting a genetic cause. Over the last few years, scientists have discovered several gene mutations linked to family cases of MND, although in some families the gene responsible has still not been identified. Knowing there is MND in the family creates new choices, opportunities and uncertainties for family members, including whether to have genetic testing; how to tell other family members (or not); whether to have children, or whether to use new techniques to avoid passing on the condition, such as in vitro fertilisation (IVF) with pre-implantation genetic diagnosis to ensure only embryos which do not have the genetic mutation are implanted . It can create a number of stresses and strains within family relationships.

 

Families with inherited forms of MND have come together in the FaTHoM group, to hear about the latest research and support each other. FaTHoM is supported by the MND Association. FaTHoM members tell us they would like to know more about how other families face these issues, and find ways to share in-depth experiences to learn from each other. Given the rarity of inherited forms of MND, often there is no-one else who lives near them, so while face-to-face support groups may be useful for some aspects of living with the condition, they have particular information and emotional support needs which are less easily met face-to-face.

 

As part of a funded PhD study at the University of Aberdeen, we are already collecting interviews with family members about their experiences of inherited MND. The support of a new award from the Motor Neurone Disease Association means these interviews can be collected in collaboration with the Health Experiences Research Group, University of Oxford, and their partner the DIPEx Charity, so we can produce a new section on the research-based website “Healthtalk”. Healthtalk is one of the few sources of evidence of patient experience recommended by NHS guidelines developers. The result will be a valuable, detailed and lasting resource for families, available twenty-four hours a day and based on rigorous qualitative social science research. This will complement the existing Healthtalk section on general experiences of MND, funded by the MND Association in 2008-9. This remains consistently one of the top two most used sections of Healthtalk, often getting over 10,000 visits per month. At the time, much less was known about genetic mutations linked to MND, so only three people with inherited forms of the condition were interviewed. Creating a new section of Healthtalk, dedicated to informing and supporting this underserved group of people, will help meet an urgent and growing need, and will be available to support future patients and families as well as those currently affected. The website is expected to go live early in 2022.

 

We are delighted to acknowledge the support of the Motor Neurone Disease Association (Ref: Locock/Sept19/941-794) and the collaboration of our co-investigators Prof Sue Ziebland and Prof Martin Turner at the University of Oxford, and Adam Barnett from the DIPEx Charity.

 

Contact

Louise Locock; louise.locock@abdn.ac.uk

Status

Ongoing