A woman who grew up with a mystery disorder has finally been diagnosed after 25 years thanks to world-leading genetic research.

Lauren Elvy, from Rainham, took part in the 100,000 Genomes Project and is urging other people not to give up hope when their condition is unknown.

Lauren was a year old when her parents noticed that she wasn’t hitting her developmental milestones. She developed multiple medical problems over the years and was initially thought to have cerebral palsy, but doctors were unable to confirm her diagnosis.

Lauren, now 26, is unable to walk on her own and uses a wheelchair to get around.

She 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. The national project was set up in 2013 by Genomics England and involved sequencing 100,000 genomes from people who have a rare disease or cancer.

Your genome is your body’s instruction manual. It is made up of DNA and there is a copy in almost every cell.

Initial testing for Lauren was inconclusive, but her parents pushed for her case to be looked into further.

Mum Lee said: "As a last hope we sent a letter, pleading with the geneticist to have another look. We had heard of other people who had taken part in the project getting a diagnosis and thought 'why haven't we?'."

Further research revealed Lauren has CDG – Congenital Disorders of Glycosylation – a large group of rare inherited diseases affecting glycosylation.

Glycosylation is the process of adding sugar building blocks, called glycans, to proteins. Every part of the body requires glycosylation to work normally, which explains the many different health problems that affect people with CDG.

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.”

Lauren is now part of support groups for her condition and speaks to other as far away as America.

Lee said: “We broke down in tears when we finally got the result because it was a huge sense of relief for Lauren and the whole family. We had always been desperate to know, mainly because knowledge helps with making decisions.

"Once she got the diagnosis she was able to be referred to more clinical teams who are working together and doing their best for her – we don’t feel on our own.”

Lauren’s dad, David, added: “The diagnosis gave us a sigh of relief having spent 25 years in the wilderness. We’ve spent a lot of Lauren’s life wondering what to do when another medical problem occurs, but now we’re able to look it up and join online talks about CDG and be reassured.”

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.

Dr Jones added: “Initial analysis of Lauren’s 100,000 Genomes Project data did not reveal her diagnosis, and it was further research into this using information from other members of her care team that enabled me to find it.

"We broke down in tears when we finally got the result..."

"This discovery will help other people in the project and, going forwards, other people having their genome sequenced in the NHS will receive a much more timely diagnosis."

NHS England and NHS Improvement has introduced the NHS Genomic Medicine Service (GMS) to provide access to genomic testing for patients. The service is delivered through a network of seven NHS laboratory hubs around the country.

The aim is to embedding genomics into mainstream clinical care so that more people, like Lauren, can potentially receive a faster diagnosis and even a potential treatment.

Prof Dame Sue Hill, chief scientific officer for England and senior responsible officer for genomics in the NHS, said: “I am delighted with the outcome for Lauren and her family and this is exactly what the NHS Genomic Medicine Service is aiming to do – to embed genomics in patient pathways to deliver faster diagnoses, more effective treatments and deliver truly personalised care for our patients.”

The South East NHS Genomic Laboratory Hub is led by Guy’s and St Thomas’ NHS Foundation Trust, providing genetic and genomic testing for patients in south London, Kent, Surrey and Sussex.