As part of their '12 Days of Christmas' social media countdown, the national Genomics Education Programme shared a collection of patient stories to illustrate the power and potential of genomic testing.
Among the stories is that of our own Patient and Public Voice (PPV) Panel member Loretta MacInnes.
Loretta is a rare disease patient and parent with a diagnosis of Fabry Disease (opens in a new tab) (opens in a new tab). Her lived experience of genetic testing and the transition from teenage to adult healthcare services included a lack of support around mental health, especially as a young adult. This experience has led Loretta to become a patient advocate.
As a result of her experiences, Loretta now runs her own website (opens in a new tab) (opens in a new tab) and blog My Fabry Disease through which she advocates for families with Fabry and other rare diseases.
You can watch Lorretta's story, along with those of Isobel and Tom, below:
My genomics journey: Three perspectives