Woman who waited 25 years for a diagnosis urges others not to give up hope
A woman who waited 25 years for a diagnosis of her rare genetic disorder is urging other people not to give up hope when their condition is unknown.
Lauren Elvy has been told what is wrong after signing on with a special research project at Guy’s and St Thomas’s Hospitals.
Lauren, 26, said: “Many of my friends have disabilities but there was never anyone with exactly the same thing as me. They all had a diagnosis for their condition and I felt the odd one out.”
Lauren, along with her parents David and Lee, signed up at Guy’s and St Thomas’ to the 100,000 Genomes Project.
Sequencing of Lauren’s genome revealed that she has CDG – Congenital Disorders of Glycosylation – a large group of rare inherited diseases affecting glycosylation, a process which is vital for every part of the body.
Lauren said: “I feel like I belong somewhere now and I’ve been able to talk to people with the same condition.
It’s something I’d always wanted to know and I hope other people who don’t yet have a diagnosis for their condition don’t give up hope.”
Pictured: David, Lee and Lauren Elvy. Credit: David Elvy)
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