'We can't bear to tell her': How cruel terminal condition will slowly rob five-year-old Evie of the ability to speak and trap her in a paralysed body – but leave her mind untouched
Twenty children in the UK are diagnosed with ataxia-telangiectasia every yearProgressive condition will slowly rob Evie of her physical abilities. There is no known cure

If you saw Evie playing with a group of her school friends, the only difference you might notice is that she is sometimes a little unsteady on her feet.

Tragically her 'wobbly legs' are due to a devastating underlying condition, that will slowly rob the bright blonde girl of her physical abilities while leaving her mentally alert.

The rare disorder known as ataxia-telangiectasia – A-T for short – is a progressive neurodegenerative disease that affects around 20 children in the UK each year. Most youngsters with the condition are wheelchair-bound by the age of 10 and few survive past their 18th birthdays.

Evie Read with her brother Wilf

Evie

Big sister: Evie, 5, (pictured left with her brother Wilf, 3) has a condition that causes progressive disability and premature death. Her parents are campaigning for better awareness of the disease

Evie's father Toby Read, 37, said the day he and his wife Emily had received the diagnosis in September 2011 was the worst of their lives.

'We had read enough to know that it was incurable and that it would do terrible, terrible things to our daughter,' he said.

Speaking to the Mail Online, he added: 'At the moment she goes to a normal school, which she loves. She is bright, loves writing, is learning to read and has many friends.

'One of the tragedies of this disease is
that the physical abilities she is just learning now will be taken away
from her.

'She will find it progressively harder and harder to control
her muscles and will slowly lose the ability to write, speak, walk, read
and even to swallow food unaided.

'She will lose none of her
intelligence but will instead have the frustration of not being able to
do the things she once could.'

Toby and Emily discovered they both carry a very rare mutation of a gene that meant each of their three children had a one in four chance of developing Ataxia-Telangiectasia

At risk: Toby and Emily discovered they both carry a rare gene mutation which meant each of their three children had a one in four chance of developing Ataxia-Telangiectasia

Mr Read, an insurance underwriter, and his wife Emily, 36, who runs an HR company from home and looks after their three children, have decided not to tell Evie about the difficult future she faces.

'Evie doesn't know about her
condition. She is aware there is something different about her and we have talked
to her about her wobbly legs that put her off balance,' Mr Read said.

'We are bracing
ourselves for when she is old enough to ask questions because we want to
protect her from this for as long as possible.

'This
summer we're hoping to take her to the Paralympics to get her
acclimatised to the idea of being in a wheelchair. We want to show her being physically disabled is not
the end of the world.'

Babies with A-T appear ‘normal’ when they are born but can show a lack of balance when they start to walk. However, the physical impact of the disease is offset during the first few years by the child's natural rapid development. It means many children, like Evie, are not diagnosed until they reach the age of five.

'We went to see a specialist when
Evie was about two. She had been quite late in walking and had never
really stabilised,' Mr Read said.

'She always appeared a little off balance and had
trouble standing still. The specialist said she thought it was
hypermobility of the joints and suggested physiotherapy to stabilise her
movements.'

Early symptoms: Evie displayed some balance problems as she learned to walk

Early symptoms: Evie displayed some balance problems as she learned to walk

My little girl: Mr Read said the day their received Evie's diagnosis was the worst of their lives

My little girl: Mr Read said the day their received Evie's diagnosis was the worst of their lives

However, the couple sought help again after her primary school teachers told them Evie's fine motor skills were not developing as quickly as her classmates. A physiotherapist suggested she see a specialist and while they were waiting for an appointment Mrs Read found a website about A-T while searching for Evie's symptoms.

'We met with a specialist neurologist
two days later and she agreed that the symptoms, which included small red veins in the eyes, were consistent with A-T.'

Evie at one-day-old: Babies with A-T do not display any symptoms

Evie at one-day-old: Babies with A-T do not display any symptoms

The condition is heriditary, which means while most children have a one in 100,000 of developing the disease, the couple's two sons – Wilf, 3, and Albie, nine-months – had a one in four chance of having it.

After an anxious five-week wait for test results Mr and Mrs Read were told last year that their sons were just carriers – but Evie did have the disease.

'It was a strange feeling, as we were relieved for them but then knew we had to focus on Evie. Now it was real,' Mr Read said.

The unrelenting disease affects a number of different bodily systems and has been described as like having the worst symptoms of cystic fibrosis, cerebral palsy and cancer. The majority of children go on to die from pneumonia as it causes life-threatening respiratory infections.

Evie's parents are now working a large medical team from Great Ormond Street Hospital and the Royal Surrey Guildford to work as hard as they can to
preserve Evie's health and mobility for as long as they can. She takes antibiotics over winter to reduce her chance of developing infections that could lead to lung scarring, as well as doing physiotherapy exercise at home.

Toby and Emily are in the process of setting up a charity

Toby and Emily have registered a charity

Now her parents are determined to raise as much money as they can to fund research into the devastating condition.

'As A-T is so rare we thought it would be a lost cause trying to find scientists looking into the condition, but we found researchers are looking at many different aspects of the disease,' Mr Read said.

'We are not without hope that a cure can
be found in time for Evie and the medical experts have indicated that
these are promising times for children like her. However, because the
disease is so rare, funding is largely dependent on grass roots
donations

'So this year our target is to raise 300,000 to further the projects. I'm running a triathlon in September with 20 other people and I'm planning to cycle 220km in the Alps with another group of fundraisers. We will push our bodies to the extreme as this is something Evie won't be able to do when she gets older.

'We know we are in a race against time.'

For more information on A-T and to support the cause visit http://www.actionforat.org/