Among other areas of interest, academics and clinicians based at the Patrick Wild Centre (the home of DART) undertake research into Fragile X syndrome (FXS), a genetic disorder associated with low IQ and autism. Family members of someone with FXS may have a diagnosis themselves, or they may be “pre-mutation carriers“. This genetic classification entails a high likelihood of having offspring with FXS and a risk of conditions such as chronic tremor. Thus FXS affects whole families in complex ways.
The Centre has excellent relationships with the Fragile X community, holding annual open days, and linking closely with the Fragile X Society. During the Family in Residence project, funded by the University of Edinburgh Innovation Initiative, we built on these links to pioneer a new way to connect with stakeholders. Over 12 months (from October 2015) we worked with a family, incorporating people with Fragile X Syndrome, carriers, and unaffected individuals, to be embedded within the Centre. You can read about the family we’ve been working with in this blog post by the father, Craig McDonald.
During the year members of the McDonald family were visited at home and invited to our Centre at regular intervals. Together we engaged in a range of activities, chosen to provide maximum opportunity for discussion between Centre staff and the family, on an equal footing. Here are some examples of what we’ve been doing:
- Testing and reviewing technologies designed to support learning in children with Fragile X, autism and intellectual disability. Reviews will be published online, alongside others on this website and we’ve already produced this short podcast with Stuart and Matthew talking about how they use technology every day.
- Creating videos to illustrate the family’s personal experience of fragile x syndrome for use in student teaching
- Reviewing lots of diagnostic and assessment tools commonly used in research studies including clinical trials, providing insight into the participant experience.
- Commeting on the paperwork which is handed out to study participants (e..g information sheets, consent forms) – are these easy to understand? do they answer the questions which families have?
We hope that the McDonalds benefitted by having the opportunity to gain insight into research and apply their expertise, derived from lived experience, to work at the Centre. Staff at the PWC are excited about how new knowledge gained from the family’s input will enhance quality across the board in our future research. More specifically, we hope that by working closely with a family in this way we will achieve more effective recruitment to the important clinical trials and other studies needed to understand FXS and improve outcome.
To our knowledge, this will be the first example at the University of Edinburgh in which a patient group and their supporters, normally merely participants in research, will be invited to collaborate as mutual partners in the creation of new knowledge. We were inspired by a scheme at the Institute of Education in which an autistic self-advocate is working as a Visiting Research Associate at the Centre of Research in Autism and Education.
Our experience will be disseminated to colleagues and we hope this pioneering model will serve to inspire others working with patient groups to invite their contribution to research as an equal partner, rather than a participant. With the family, we will develop and publish (free to download from the Patrick Wild Centre website) best practice guidelines for other research groups wishing to adopt a similar ‘embedded participant’ model to enhance knowledge exchange in their fields.
We believe it is crucial to create a context in which stakeholder perspectives and lived experience are given equal value to scientific knowledge and academic expertise. This endeavour will ensure that research work and consequent clinical practice genuinely serves the needs of patients and their families.