AN OXFORDSHIRE mother has spoken of the frustration and isolation felt by parents of children living with a ‘syndrome without a name’ – a genetic condition so rare that it is impossible to diagnose.

Leanne O’Donnell, whose eight-year-old son Charlie Deardon has such a condition, explained that the lack of a diagnosis has also often left her unable to access support to help with raising her child.

A special event organised by the SWAN UK (Syndromes Without A Name) support network and the Oxford NHS Genomic Medicine Centre was held in Oxford last week to bring parents together and offer support.

Speaking at the event Ms O’Donnell, from Didcot, said: “There have been two or three times where they have said 'we are 99 per cent sure this is what he has got', but they’ve turned out to be wrong.

“It’s very frustrating.

“You think doctors know everything and when they say they don’t know, then where do you turn?

“You just think 'am I the only one?'"

“Events like this really are helpful because you do get to meet other families in the same situation.”

Charlie is now a patient in the 100,000 Genomes Project in Oxford, a leading centre for genomic research, which has given Ms O’Donnell and thousands of others hope.

Ms O’Donnell said: “Getting the diagnosis won’t change Charlie or the treatment but it would change how we can access support.

“If you can tick a box saying ‘yes he has this’ then you can get access to help.

“And although it might not benefit Charlie in terms of his condition, it might help kids coming after Charlie.”

The 100,000 Genome Project involves both parents and the child giving a blood sample so that their DNA can be sequenced and then compared.

There has so far been around 3,000 families with rare diseases recruited to the Oxford centre.

Dr Usha Kini, a consultant clinical geneticist for Oxford University Hospitals NHS Foundation Trust, said the project could eventually lead to treatment options for such conditions.

She said: “In the past we had to do one test at a time because they were single gene tests. Now, with whole genome sequencing, it’s one test and it allows us to look at chromosome abnormalities as well as single-gene changes.”