Epilepsy 'first' for ill children

Jenna Hunter's parents said the project was incredible

Equipment that helps identify a complex form of childhood epilepsy has been donated to a children's hospital.

The dedicated DNA Sequencer machine has been added to the Royal Hospital for Sick Children at Yorkhill in Glasgow thanks to the Muir Maxwell Trust.

The machine is said to be the only one of its type in the UK used solely for identifying mutations in the SCN1A gene in children affected by epilepsy.

Ann Maxwell, of the trust, described it as "a giant leap forward in diagnosis".

Mrs Maxwell's 10-year-old son Muir has a form of epilepsy called Dravet Syndrome that can severely hinder a child's development.

She said: "This project far exceeds our expectations - the results are remarkable."

'Devastating consequence'

The syndrome develops gradually and often a child suffers years of uncontrolled seizures before a diagnosis is made.

When the genetics lab identifies an SCN1A gene mutation, doctors are able to make a much earlier diagnosis and use specific therapies to control seizures and halt progress of the condition.

Ailsa Gormley said her son Damien has responded to treatment

Dr Sameer Zuberi, consultant paediatric neurologist at Yorkhill, said: "Being able to identify this gene at an early stage is critical to improving the quality of life of children with severe epilepsy as well as the lives of their families.

"Dravet Syndrome is complex with devastating consequences."

John Hunter and Lynda Anderson, from Caldercruix, North Lanarkshire, described the system as "incredible".

Their five-year-old daughter Jenna has Dravet Syndrome.

Ms Anderson said: "It's been great news for Jenna, the quality of her life has totally changed."

Mr Hunter added: "She can play now. We're very proud, she's surprising us every day."

Ailsa Gormley, has a son Damien, 15, who suffers from Dravet Syndrome.

Ms Gormley said: "To finally find out what was wrong was brilliant. I feel like we know which road we are on and what treatment to give.

"Since he started the new medicine his seizures are so much better, he is more alert, more vocal and he smiled for the first time in years."