大象传媒

If you have a rare genetic disorder, new technology that allows your genetic code to be analysed means you could have a diagnosis within weeks. Before, people with rare diseases would often go their entire lives without a diagnosis. It's a revolutionary advancement but does it change how patients are treated or help improve their wellbeing?

Presenter James Gallagher meets Lisa whose daughter Jaydi was born with a rare genetic disease that affects her growth, speech, eyesight and a number of other conditions. We hear the story of Lisa and Jaydi's journey to diagnosis through Exeter University's Deciphering Developmental Disorders (DDD) study, and how it changed the course of Jaydi's life.

Her clinician, Consulatant Clinical Geneticist Dr Emma Kivuva, tells James how the diagnosis impacted on the care they offered and Dr Caroline Wright, Genetics & Genomics Theme Lead on the DDD study explains how they are measuring the effect of diagnosis on patient treatment and wellbeing.

This programme was produced in partnership with The Open University.

Presenter: James Gallagher
Producer: Tom Bonnett
Editor: Holly Squire