Like all children, five-year-old Evie Read likes to talk about what she’s going to do when she grows up, specifically what she will do ‘when I am a mummy’ and ‘when I can drive a car’.
It’s the sort of thing that would provoke a smile in most parents, but for Emily and Toby Read it is simply heartbreaking — for they know that without a medical miracle, their beautiful daughter will not get to experience any of these things.
Watching Evie bouncing off the sofa during a boisterous game of doctors and nurses with her three-year-old brother Wilf, it’s hard to envisage her as anything other than a healthy, active little girl.
Indeed, until very recently there were no obvious warning signs that anything was wrong.
Evie achieved the usual development targets and was advanced in her talking. She said her first word — ‘duck’ — at ten months.
She didn’t even have much in the way of colds.
A slightly ‘wobbly’ walk was put down to hypermobility — loose joints — by a paediatrician, but that didn’t stop her running around the playground with her friends.
But eight months ago her parents were told that Evie has ataxia-telangiectasia (A-T), a genetic disorder which will cause their seemingly healthy child to gradually lose the ability to walk, talk and even swallow.
Many children with the condition need a wheelchair by the age of ten. /03/26/article-2120794-122E7EAD000005DC-665_306x423.jpg” width=”306″ height=”423″ alt=”Evie as a baby. “I can”t think too much about the future, it would drive me mad,” said Emily” class=”blkBorder” />
Evie as a baby. “I can”t think too much about the future, it would drive me mad,” said Emily
The average life expectancy for A-T is just 25.
There is no cure. Treatment involves trying to maintain what functions the child has for as long as possible with the use of physiotherapy and speech therapy, for example. Intellectually, the child remains entirely capable.
How long Evie has before she loses her physical abilities, no one knows.
However, there are already signs of change: a couple of months ago she started to find going down stairs problematic and so at home she prefers to shuffle down on her bottom.
Increasingly, she reaches out to hold Emily and Toby’s hands as she walks.
Her parents, still reeling with shock, are torn between trying to enjoy the happy, active little girl that Evie is now, and an overwhelming heartbreak about what is to come.
They have not, of course, told her that she is ill, only that special people have ‘wobbly legs’, as she calls them, and that she is one of those people.
‘Every single day there is a moment of sadness,’ says Emily, 36, a human resources consultant from Haslemere in Sussex.
‘We have just been on holiday and watching Evie taking part in a disco and having a wonderful time was amazing. But at the back of my mind I was thinking: “Will she be able to do that this time next year”
‘I can’t think too much about the future, it would drive me mad. A-T is the worst condition you could ever imagine to affect a child. And my daughter has it.’
There are about 200 people with A-T in Britain — it affects equal numbers of boys and girls — with ten new cases diagnosed each year. The condition is caused by a fault on a gene which would normally help produce a protein called ATM.
‘This protein is a big deal — it monitors any damage to the DNA in cells and responds to it,’ says Malcolm Taylor, a professor of cancer genetics at Birmingham University and one of the UK’s leading authorities on the condition.
The cells of the immune system are especially dependent on ATM, as is an area of the brain called the cerebellum, which controls movements and co-ordination.
‘If you don’t have co-ordinated movement, then it’s not just your mobility that’s affected — so is your ability to chew, swallow and to co-ordinate your eye movement, and this is what happens to A-T patients,’ says Dr Graham Davies, a paediatric immunologist who works at Great Ormond Street Hospital and at an A-T clinic in Nottingham, one of only two in the country.
‘ATM also seems to have a protective effect against certain cancers like lymphoma and leukaemia, so the risk of these is heightened.’
She was a little slower to walk than some – finally tottering at 17 months – but not worryingly so
Experts estimate that around 15 per cent of patients develop a malignancy.
Professor Taylor adds: ‘Another characteristic of A-T is spider blood vessels sometimes in the whites of the eyes or on the ears.’
Although the condition is present from birth, it’s not until about the age of two that there are noticeable symptoms such as a wobbly walk or the child starting to fall over for no reason.
However, diagnosis can be delayed because sometimes, as with Evie, a child may learn to walk and talk almost as normal and then start regressing.
About 15 per cent of patients will have a milder form of the condition as they produce some of the ATM protein.
‘For them the progression is slower, some live to middle or old age,’ says Dr Davies.
Yet for most, the prognosis is not so hopeful.
‘I deal with life-limiting conditions all the time, but A-T is always very upsetting,’ admits Dr Davies.
‘These children are intellectually normal but progressively lose physical capabilities. What is heartening is how cheerful they manage to remain.’
Researchers are trying to find a way to halt the condition in the early stages, possibly with the use of stem cells.
‘There was also a small Italian study that found that steroid use can slow down the changes in the cerebellum but this needs further investigation,’ says Dr Davies.
The Reads don’t find it easy to discuss what will happen to Evie, but they are desperate to raise the profile of the condition, and funds for further research. Their pain is palpably raw. Evie was, after all, a perfectly healthy child, they thought.
She was a little slower to walk than some — finally tottering at 17 months — but not worryingly so.
It was staff at her nursery who first flagged up concerns about Evie’s wobbly walk and so the Reads took her to a paediatrician, who diagnosed hypermobility but said after a few sessions of physiotherapy she’d be OK.
However, two years later when Evie was five, her school teacher said she had concerns about her fine motor skills, for example the way she held a pencil.
So last July the couple took her back to the physiotherapist.
‘She said if it was hypermobility, then it should have corrected itself,’ says Toby, an insurance underwriter.
On the diagnosis of A-T: “I went into shock – it was as if the world was in slow motion,” said Emily
‘Now she thought it may be an injury to the brain called cerebellar ataxia — which was possible, as Evie had been born with a forceps delivery.
As soon as someone says brain injury, you go into crisis mode.’
Rather than wait to see an NHS neurologist, the couple decided to use Toby’s medical insurance to go privately.
Still, with two weeks to wait, Emily started to research what could be wrong with her daughter.
‘I’d noticed that Evie had developed little red veins in her eyes,’ says Emily.
‘I’d just put it down to tiredness, but when I typed ataxia and spider veins into Google I came across A-T.’
The symptoms rang alarm bells.
‘I found a video of a boy who had A-T,’ she says.
‘He walked just like Evie does, with a high-stepped gait — something I had previously thought nothing of.
‘When I read the list of other possible symptoms — the spider veins, slightly slurred speech — I just knew this was what Evie had.
‘I felt a mixture of fear and panic, but I couldn’t let it show as I still had to get through teatime, bath and bed with the kids.’
As well as Evie and Wilf, the couple have a nine-month-old son, Albie. When Toby got home that night, he could see Emily was upset.
‘I just told him to go and read what was on my computer.’
She heard Toby cry out as he recognised the symptoms.
‘There were 43 indications of the disease and Evie had almost all of them,’ he says.
Toby and Emily stayed up all night reading everything they could about the condition.
‘We hoped that we would find something that would convince us this was not what she had,’ says Emily.
With 48 hours to the appointment it was difficult maintaining their composure.
‘We wore sunglasses so the kids did not see our tears,’ says Toby.
On the day of the appointment Evie was given blood tests and a brain scan. The results arrived in a few days and confirmed their worst fears — a diagnosis of A-T.
‘I went into shock — it was as if the world was in slow motion,’ says Emily. ‘The pain was intense,’ adds Toby.
But there was another issue. There was a chance their sons had A-T, too. Between one in 100 and one in 200 people carry the faulty gene.
It is now a matter of waiting to see how Evie progresses
Blood tests revealed Emily and Toby were each carriers — their children had a one in four chance of having the disease. In fact while both boys are carriers, neither is affected.
‘But even when the tests came back, we had no more than 30 seconds of relief,’ says Toby.
‘My brain flicked straight back into sadness thinking about Evie.’
It is now a matter of waiting to see how Evie progresses.
‘We try and keep everything as normal for her as we can,’ says Emily.
In the future her treatment will involve physiotherapy, speech therapy and large doses of antibiotics.
The couple have met other children with A-T whose symptoms are more established than Evie’s.
‘That is very scary because it’s like a glimpse of what the future will be for us,’ says Emily.
‘But Evie has no idea that this is what is going to happen to her — she couldn’t take that in at five.
She knows she occasionally needs to go in the buggy when she’s tired.
‘Wilf, too, although he’s only three, accepts that sometimes Evie needs help on stairs or sometimes gets tired quicker than him.’
Last October, while the rest of the family managed to fight off a chest infection in days, it lingered for ten weeks with Evie.
‘We have been warned that a bad chest infection or leukaemia is often what carries these children off in their teens,’ says Emily.
‘It’s worrying, and we do what we can to keep her healthy but at the same time we want to maintain a normal life for her.’
The family are now busy with the charity they have established to raise funds for research.
‘A consultant once said to us that there is a cure out there — we just haven’t found it yet,’ says Emily.
‘We remain positive there is something that can be done,’ adds Toby.
‘Even if it comes too late for Evie, hopefully it won’t be too late for other children.’
To support the Reads, visit actionforat.org/