Peterborough toddler Emily’s brave fight against rare form of epilepsy

Dravet Syndrome is very rare and its effects so severe it has changed life for her mum, dad Gareth, and big sister three-year-old Rosie.

Catherine, a primary school teacher from South Bretton, had to give up work and was terrified as little Emily at first suffered up to 500 fits a day.

Today things have improved after the diagnosis at eight months old that she has Dravet Syndrome and medical experts found out Emily is missing one half of the key SCN1 gene.

New medication has reduced her seizures to 10 to 20 a day and a night-time fit monitor has been what Catherine calls “a life saver” because it alerts her mum and dad if she has one when she is asleep.

During her short life Emily has gone through 28 emergency hospital admissions and been admitted to intensive care twice.

Devoted mum, Catherine said the new medication has ‘changed her life’. Recently her mum and dad were delighted when they were for the first time able to take Emily for a walk in the woods. Something other families would take for granted.

But they know a long and difficult journey lies ahead.

Saddest of all, they are aware that currently there is no cure for Dravet Syndrome .

Everyday life for the family has been affected. Bathtime for Emily has to be carefully managed as she is unable to control her temperature. Her diet also has to be strictly managed.

She was placed on a clinical trial for a Ketogenic diet, specifically tailored for sufferers of epilepsy.

Catherine explains: “We have to make specific food for her. Everything has to be weighed to the nearest gram. Everything has to be approved by a dietician, so no chocolate and things like that.”

The degenerative syndrome can later cause regressions; which include mobility problems, ADHD and Autism.

And a critical stage could be approaching as Catherine says: “She’s 22 months old. I try not to say ‘nearly two’ because for children with Dravet, as that’s when regressions start. So I try not to think about it.”

Catherine explains how tough it is on the family as a whole, including Rosie: “With Emily having lots of mum and dad’s attention, it has an effect on Rosie’s life.

“So we’re also trying to be aware of the impact it has on her. In the early days Emily couldn’t be over stimulated so we would have to take her away from her sister.”

The family also has a financial burden and carers help with daily pressures and know that Emily will have to have care in place for the rest of her life.

But they acknowledge that they have had been supported immensely by their family and friends and by staff at Peterborough City Hospital.

Now Catherine and Gareth are fighting back with a determination to defeat a crippling condition that is virtually unknown to the general public and is in need of expensive medical research.

With remarkable bravery Catherine said: “We have done our crying now.

“It is time to raise more awareness - and more money.”

This effort is already underway.

A whopping £15,000 has been raised for Dravet Syndrome UK, from a bake sale Catherine held at Peterborough City Hospital and a 111 mile bike ride from Peterborough to Great Yarmouth by 28 employees from JBA Bentley, Environment Agency and BAM Nuttall, including dad Gareth.

Meanwhile life is improving and Catherine appreciates simple pleasures after being burdened by the emotional weight of the situation at first.

She said: “The carers come in to play with Emily so I can play with Rosie, so we can have some one-on-one time together. For the first time I have walked around Ferry Meadows alone. Early on I was petrified to go out of the house. I could never leave Emily. “

The carers have helped ease the burden but like any mum, Catherine worries over her little girl’s future: “We know she can never be truly independent.”

But Catherine has now spoken to the parents of another child with the same condition and hopes that in future families facing the same problems can come together and share their problems - and hopes.