Lisa BeatonParticipant Panel member
We initially embarked on genetic testing in 2009 following the birth of our 4th child who had been diagnosed with arthrogryposis and other comorbidities.
Our family subsequently joined the 100,000 Genomes Project in 2015 because it is felt that our daughter likely has a neuromuscular disorder of genetic origin which affects her systemically. Prior to being accepted on the study, we had already been recruited to the DDD study. Thus far, we have no answers from either study and are still awaiting a unifying diagnosis that explains the reasons behind our daughter's complex medical and physical health needs.
I volunteer as a Parent Representative for SWAN UK (Syndromes Without A Name) and I am keen to support and raise awareness to both parent-carers and professionals on the idiosyncrasies of the undiagnosed/rare disease pathway.
In the last 2 years, I have been privileged to be involved with a creative bioethics project about the lived experiences parent-carers face in having a child with rare and/or undiagnosed complex needs. Myself and fellow participants have explored this through the mediums of creative writing, collage, poetry and graphic art.
In my spare time, I enjoy baking, craft projects and being ruled over by demanding, naughty but sanity saving dogs.