A young woman has finally got a diagnosis for her condition – after waiting 25 years.
Lauren Elvy, 26, has congenital disorders of glycosylation (CDG), a developmental disorder that has left her in a wheelchair and often unable to do everyday tasks like getting dressed, washing and eating.
For most of her life, Lauren’s parents were given “a huge long list of conditions” that affected their daughter, including an underdeveloped cerebellum, the back of the brain.
But after Lauren and her family signed up to the NHS’ 100,000 Genomes project through Guy’s and St Thomas’ to learn more about rare diseases, researchers found that Lauren had CDG.
Although there is no treatment for CDG, Lauren’s mother Lee told the News that the diagnosis was “life-changing”.
“It’s much easier now… We always wanted to know, and it’s given us some peace of mind. It was worrying before because you’d never quite know.
“When Lauren woke up in pain, is it something we ring the doctor about for example? Now we know it’s CDG, you have that certainty.”
Like many disabled people, Lauren’s life has been changed a lot by the Covid-19 pandemic. Whereas before she used to go out to social events like bingo, bowling and dance and drama clubs – and even concerts by her beloved Little Mix – now many of her activities are online.
Despite this, she is still managing to stay active with “loads of puzzles, online yoga and cardio,” Lee said, as well as cooking and baking.
And Lauren’s diagnosis also means the family have been able to get in touch with CDG UK, who have given “huge support,” Lee said. “You speak to people there and know that there are people going through similar things.”
Lauren added: “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.”
The technology and approach used by the 100,000 Genomes project will soon be available more widely, through the NHS Genomic Medicine Service. Guy’s and St Thomas’ will be running the service in south London, Kent, Surrey and Sussex.
Dr Rachel Jones, a consultant in clinical genetics and clinical scientist at Guy’s and St Thomas’, said: “I was delighted to finally be able to give Lauren an answer for why she has the problems she does, after years of genetic testing as well as many other diagnostic investigations. While there isn’t currently a treatment targeted specifically for Lauren’s condition, it still provides information about her future as well as an explanation for what has happened in the past.
“We know that many people with genetic conditions which have remained a mystery for some time find having a name for their condition very empowering. The introduction of whole genome sequencing means we will be able to help many more families find their diagnosis, without waiting as long as Lauren.”