Patient Stories

Article Everyone called me a Sickler Brenda's journey highlights the impact of stigma of sickle cell, the importance of compassionate care and why listening to patients matters.

Article At the time I was devastated, but now I know that it’s not less, just different I didn’t know anything about Down syndrome and I didn’t think I was strong enough to cope.

Article Drowning in the unknown — but holding on for the small wins “I know you feel like you are drowning right now, but you will get through this.”

Article We all want answers. Jo helps us to get those answers Katie has hypertrophic cardiomyopathy. Here she tells her story.

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.