NHS England Genomic Medicine Service supported Unique’s Rare Chromosome & Gene Disorder Awareness Day in June 2022 by sharing information and family stories; highlighting the role genomics and the National Genomic Test Directory play in delivering diagnoses and links to potential treatments for people living with a rare chromosome or gene disorder.
Here is a home video from Gavin about his family and how a genetic diagnosis has helped his family access further support and diagnoses of autism that has helped them celebrate their uniqueness.
Meet Emma, Joel and Ophelia sharing their experience of how a genetic test allowed their family to get a diagnosis and get access to further support and specialist care.
Many thanks to the NHS England Genomic Medicine Service for their support, and to Gavin and his family, and Emma, Joel and Ophelia for sharing their experiences.