WHEN Ann and Jonny Maxwell’s baby son had his first seizure at just four months old, it was the start of a long and difficult journey for the family.
Muir was eventually diagnosed with severe myoclonic epilepsy, also known as Dravet’s Syndrome, and the news meant the family’s hopes for him – that he would have a normal life – were dashed.
Now 15, Muir also has communication, developmental and behaviour problems that will last a lifetime.
But the family’s personal journey has been coupled with a very public one.
Ann not only gave up her high-flying finance job to care for her son, she established the Muir Maxwell Epilepsy Trust in 2003 to fund research into childhood epilepsy. Run initially from the family’s Midlothian home, it grew into a leading UK charity and nine years on has raised almost £7 million.
Already a dynamic woman, given new drive by the plight of her son, she has led the trust through a series of celebrity-studded charity balls and other fundraising events.
Now it has reached a new milestone – the establishment of the The Muir Maxwell Childhood Epilepsy Research Centre, which is fast becoming the UK’s leading centre for research into paediatric epilepsy.
It has appointed a new head, Dr Richard Chin, who works for Edinburgh University and the Sick Kids Hospital, and in his role as head of the centre, sits at the heart of an international network of researchers working on aspects of child epilepsy in areas as diverse as cell biology and social sciences.
Ann, 49, explains: “It’s been quite fortuitous that Edinburgh University approached us a few years ago now and invited us to embark on this partnership to establish the Muir Maxwell Epilepsy Centre.
“One of the risks I suppose when we talk about a centre is that everybody thinks about it being a bricks and mortar centre and in the end it will take that form, because they intend to include the Muir Maxwell Epilepsy Centre at the new children’s hospital at Little France when it’s built.
“But what’s relevant is that while Richard is employed by the university in a research post, he also has a role within the Sick Children’s Hospital in Edinburgh as a paediatric epilepsy specialist. So while he’s a scientist he’s still a doctor and I think that’s what matters to us as a charity.”
Dr Chin agrees that the measure of the centre’s success will not be simply the number of research papers published, or conferences held, but in the improvements made to the lives of children with epilepsy and their families.
He says: “The three main themes of the centre are related to the three primary questions that clinicians and patients are always faced with. The first is, what is the cause of epilepsy? Because in 70 per cent of cases we don’t know the cause.
“Second is, what is the best treatment? We’re addressing this in a general holistic sense, we’re talking about that quite loosely, not just drugs but early detection and intervention, particularly on learning and behavioural problems associated with epilepsy, because this is an area which is severely unrecognised and can be severely mismanaged. Lots of people think of epilepsy as just seizures and it’s far more than that. The learning and behavioural problems are largely ignored.
“The third is the psychosocial aspects of epilepsy – how does it affect the child, how does it affect the family, what are the financial, social and behavioural effects that it has on them?”
He is overseeing the work of researchers from as far afield as the US and Norway, working in a huge range of disciplines. He says: “We’re a virtual centre. We have researchers all the way from biological scientists up to population health scientists, and importantly, we have people who are working in social sciences as well.”
It is this ability to take esoteric research and turn it into hands-on help that really matters to the families affected by the condition. Ann says: “For those that are living with the problem it’s about how you make quality of life better for families that are struggling to cope. For some families the damage is done and we can’t undo that damage, we can only make it as manageable as possible, and that would include us.”
Muir, whose illness inspired the whole project, turned 15 on Sunday, and boards during the week at Donaldson’s School, chosen because of its excellent provision for speech and language.
His mother says the whole family will face the challenge of dealing with his condition for the rest of his life: “He’s a young adult now. He’s profoundly damaged by his epilepsy and so he still remains developmentally, in his play, somewhere around the age of four or five years old but he has the emotions of a 15-year-old and expectations of a 15-year-old and he’s physically as strong as a 15-year-old.
“Muir’s doing very well within his own limitations, but he has quite severe limitations. He’ll never leave home, he’ll never work, he’ll never marry, he’ll never have kids. There are lots of things that we take for granted that won’t happen for Muir and that’s what we’re hoping to avoid for other children in the future.”
She hopes the centre will help others with severe childhood epilepsy escape some of the challenges that have beset her son, by improving diagnosis so treatment can be provided earlier and mitigate the symptoms. The centre will also explore the factors during pregnancy that might contribute to epilepsy, in the hope of preventing it from developing at all.
Ann says: “My hope for the next five years would be to improve quality of life for those who are already managing difficult epilepsy, improve outcomes for those who are in an early stage of diagnosis and eventually to discover the reasons why children are being born with these difficult epilepsies and perhaps as a consequence perhaps put a stop to them.”
One of the great advantages of basing the centre in Edinburgh is that Scotland is among the world leaders when it comes to making available to researchers a wide range of useful data, from census records to health and education statistics.
One of the centre’s major projects will be to build on this and create a confidential database bringing together information on children in Scotland suffering from epilepsy.
Dr Chin took up his new post last year, but has already impressed Ann, who says: “He’s been just months in post but his impact has been quite mesmerising. We’re pretty stunned by how quickly he’s taken hold of the baton.
“We pledged to raise £1m over five years which would form the start-up capital for the research team. I would hope the outcomes will be so dramatic and so impressive that that will result in substantial funding thereafter and that the centre will pretty much become self-funding.”
‘Even the system discriminates’
ROZ MacLeod, 47, knows well the pressures of caring for a child with severe epilepsy. Her eldest child, Lachlan, suffers from Dravet’s syndrome.
The seizures began when he was five months old, and particularly when he was younger, were so severe and close to one another that hospital visits felt endless.
Now, at the age of 11, he has seizures around three nights a week, and the condition has severely affected his learning and communication skills.
Compared to many with Dravet’s, Lachlan, pictured with Roz, appears high-functioning, but the challenges he faces are huge, according to his mother. “He has a very limited range of understanding and that’s when we see the effects of his frustration come out as behavioural problems.”
For the MacLeods, from Balerno, the challenge of epilepsy is not only about dealing with the moment-by-moment problems of the condition, but with the lack of understanding and support.
“Children with epilepsy suffer discrimination even within the special needs system,” says Roz. “Parents with children with epilepsy receive hardly any respite in early years because professionals outwith the health system are so afraid of seizures.
“The longest sleep I had in three years was during the birth of my daughter. Lachlan had just turned three, I was so shattered during labour the nurses said ‘You’re too exhausted, do you want diamorphine?’ and that gave me three hours sleep.”
Because Lachlan needs someone with him who is able and willing to administer the drugs he needs when he has a seizure, they struggled to find him nursery and school places. Eventually Roz had to give up her job as a journalist to care for him.
He is now at Redhall special school, but life is still not easy for the couple, or their daughter Siri, now eight.