Jillian and Sam (Carer and Patient)

Jillian and Sam@NHS from 10/07/17 to 14/07/17

Twitter Handle: @HastingsJ123

Patient: Carer for my Son and patient representative.

Condition: Mum of severely disabled boy (age 3) with undiagnosed genetic condition and Vice Chair of Participant Panel, 100,000 Genomes Project.

Place of treatment/care: As a Mum and carer: Bristol University Hospitals NHS Trust / St George’s Hospital, South Thames Regional Genomic Medicine Centre / Weston Area community health team.

My background is in geography and town planning. I was a civil servant in central government before taking a break to look after my children. Now I’m Vice Chair of the Participant Panel for the 100,00 Genomes Project, run by Genomics England. This very exciting project is using whole genome sequencing (WGS) technology to investigate rare diseases and some types of cancer in the UK population. The aim is to improve diagnosis, screening and/or treatment in the future. My role is to make sure that participants are fully involved in decisions about how our data is used. Through this work I also have a seat on Genomics England’s Access Review Committee, which assesses all the applications coming in from research consortia who want to examine the data collected by the project.

My family is participating in the 100,000 Genomes project because my son is severely disabled and none of his doctors can tell us why. It’s likely he has an undiagnosed genetic condition so we’re hoping that sequencing his genome will reveal some answers for us as a family, as well as providing valuable information to help others in future.

We’re members of SWAN (Syndromes Without A Name) UK, a charity which offers advice, friendship and fun to families with undiagnosed children, and is run by the Genetic Alliance.

I spent 10 years playing ultimate frisbee and loved every minute; it’s the best sport ever! I retired from national competition a long time ago, but try to keep fit and recently ran a half marathon to raise funds for my son’s special nursery. I do like to relax with a glass of wine though…

Relevant links