Patient Stories

Article A nurse and mum to two children with genetic epilepsy who knew something wasn’t quite right Being a nurse helped Lindsay see the signs that something wasn't quite right with her two children, but being a Mum helped her to keep pushing for answers.

Article My daughter is the only known person in the world to have this gene change A routine school eye test marked the beginning of a life changing journey for Eva and her daughter, eventually leading to a diagnosis of an ultra rare condition AARS2.

Article How living with cystinosis has led to Rhys’s dreams to become a scientist Nine year old Rhys lives with cystinosis, a rare genetic metabolic condition, but he’s full of hope and dreams of becoming a scientist one day to help children like him.

Article The difference rapid SMA assessment made to Charlie’s life At just seven weeks old, Charlie was diagnosed with SMA thanks to a rapid assessment. Early treatment has halted the disease, and today he’s happy and thriving.

Article My son was the sixth child to have a gene therapy for SMA Sebastian was the sixth child in England to receive a gene therapy for SMA.

Article Genetic testing gave me the answers that I had been looking for Getting a diagnosis not only helped Sebastian, it changed the way I listen and care for my own patients.

Article People in my community often don’t talk about cancer. If we don’t talk, people die. “I felt the weight of the taboo when I was diagnosed. I didn’t tell anyone about the breast cancer.”

Article Everyone in our family was healthy… genetics was definitely not on our radar! The day Ralf got his liver transplant, it felt like the stars had finally aligned.

Article The many different faces of Spinal Muscular Atrophy SMA Type 3 has changed how I live my life, but treatment, community, and sharing my story have given me hope.

Article I was just 23 years old when I had a sudden cardiac arrest Lisa’s diagnosis of Long QT triggered a series of genetic tests for other members of her family too.