Having a diagnosis will be key to giving parents the power to seek key support

FAMILIES of children with rare genetic conditions can get a diagnosis years faster thanks to advances in whole genome sequencing, a study has found.

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Three-year-old Nathaniel Clayton started having problems with his vision when he was just six months old

Whole genome sequencing provides a readout of a person’s entire genetic code and looks for changes that relate to specific health conditions.

Now researchers have found that advances in the field over just a few years have led to families getting answers sooner.

And more children are also receiving a diagnosis, they found.

One family have described how their son’s diagnosis with a rare condition has given them “power” to help their child.

Three-year-old Nathaniel Clayton started having problems with his vision when he was just six months old.

After numerous appointments medics had advised that a small part of Nathaniel’s genetic code should be examined to try to determine the cause of his health problems.

But after the family were referred to the world-renowned children’s hospital Great Ormond Street (Gosh) in London, experts decided he should have whole genome sequencing.

By examining his whole genetic readout, doctors were able to diagnose him with an incredibly rare neurological condition called KIF1A which only affects around 500 children globally.

His mother Marianne de la Roche, 33, said: “(Having a diagnosis) gives you a name of what is causing all of these issues.

“When you have a disabled kid there is a constant grief there, so now you can name it.

“It gives you more weight when you want to advocate for your child and it means you can have a more targeted approach at helping them out.