My family joined the 100,000 Genomes Project in 2017 to try and find answers to why my daughter was displaying symptoms that where outside of her first diagnosis (22q11 deletion). After 3 and half years, through the 100,000 Genomes Project, we managed to get a diagnosis of a very rare condition (TANGO2). Getting this diagnosis enabled us to support my daughter and enabled to ensure she gets the monitoring and treatment that she needs. I have an interest in reducing the diagnostic odyssey for other families, the Generation Study and working on how results are communicated with families.
