A mother’s account of her son’s chronic granulomatous disorder - an X-linked condition.
Supporting a wife with an autosomal dominant condition – Alan’s story.
Cri-du-chat syndrome - a condition caused by a chromosomal abnormality.
A story from Linda, a mother of two children with ectodermal dysplasia.
Living with the complexities of a multi-factorial condition.
Ben’s story of his struggle to obtain a diagnosis
Joanna’s diagnosis of attenuated Familial Adenomatous Polyposis (AFAP), and the implications for her family.
"Within a few hours we knew that there was something wrong"
A mother’s account of her daughter’s Turner syndrome.
Steve discusses a family history of cardiac events and his own experience of a myocardial infarction.
Janie’s story of living with spina bifida.
A mother’s story: The loss of two much-loved children to an autosomal recessive condition.