Autism causes profound problems for children and their families. So why are doctors still reluctant to diagnose it?

Fifty years after the National Autistic Society was set up, the problems of getting a diagnosis are leaving parents frustrated and youngsters isolated
Amanda Freemantle with her six-year-old daughter Shannon both smiling.
Amanda Freemantle with her daughter Shannon. Photograph: Fabio De Paola For The Observer/Fabio De Paola

First they blamed the child, then the parents, then even the doctors. A few later pointed to modern life: computer games or too much television. But after decades of work begun by two remarkable British women, we are now closer than ever to understanding that genetics are responsible for the prevalence of autistic spectrum disorders in children.

Described back in 1979 by Dr Lorna Wing and Dr Judy Gould as a "triad of impairments", autism is a lifelong developmental disability that affects how a person understands, communicates with, and relates to, other people and the world around them. It is a spectrum condition, which means that while all people with autism share certain areas of difficulty, their condition will affect them in different ways. While a minority of people are severely disabled by the condition, others are exceptionally bright and able to function at a high level in many professions.

Today we have autistic characters making occasional mainstream appearances in TV programmes such as Scandinavian police thriller The Bridge and in books such as The Curious Incident of the Dog in the Night-time, while celebrities from Melanie Sykes to Sylvester Stallone talk about their autistic children. But families still face enormous struggles, not just in coming to terms with and coping with their child's disability, but getting a diagnosis and the help they need.

"My daughter Shannon is now six-and-a-half," said Amanda Freemantle, from Haverhill, Suffolk. "The school has been enormously supportive, but we've had a huge struggle trying to get a diagnosis for something I've known really since she was 18 months old.

"The GP said, 'Oh, do you really want us to label her?' Well yes! If she has autism then she has it, whether we call it by its name or not. We want to know, but we just can't get the diagnosis done. We've been trying and trying for a couple of years and keep being fobbed off. We considered getting a private assessment, but it was over £1,500 and we just don't have that kind of money. It's important so that we can help her as a family. I would rather know. We just want to understand and move on.

"She was my first child so I didn't know what to expect. But it became clear that she wasn't doing the things other children her age were doing."

It's a common story, according to Jane Asher, the long-time president of the National Autistic Society. She said: "Still after all this time it's just a terrible uphill struggle. Parents have to fight tooth and nail to get the provision their children need. It's creeping forward certainly from the times when mothers were told it was all their fault. That's obsolete, thank God, and our schools are a brilliant model of best practice, but we're still fighting."

Public understanding of autism, a condition which has no physical signs, is key to helping people with the condition live less difficult lives, said Asher.

"A guy with Asperger's syndrome once described it to me as being like a story of ducks and swans. The neuro-typicals are the ducks and they produce this child that they pressure and pressure to be a duck even though they think it's an ugly duck. But if they just let it develop into a swan it'd be different but beautiful all the same.

"It's rather a nice analogy, although you have to always bear in mind that there are some cases at the other end of the spectrum where people are utterly wretched, enduring the horrors of a debilitating condition."

The width of the autistic spectrum only adds to the misunderstandings around the condition. For Benjamin Ford, his efforts to get a diagnosis for his son led to the discovery that both he and his own father probably have Asperger's. It has led to the whole family reassessing their lives and understanding of each other, but it hasn't helped alleviate the awful time his son, 14 next month, is having at school.

"I am acutely aware now of how it affects my son's ability to learn at school, how he is bullied and how ignorant people are about his problems, including teachers, because he doesn't look any different to other children," said Ford, from Derbyshire.

"It has been a frustrating process for us to get recognition that our son is different, obtain any information about what that difference was and then find out any information about his condition. We have come as far as we have because we have doggedly stuck at it, done the research, and worked hard at applying what we know.

"We are still involved in that process. We don't have a formal diagnosis of Asperger's syndrome for our son, rather allusions to its presence.

"I think it is scandalous that he hasn't been formally diagnosed and I feel that we have been held back from getting information that would have helped us in his early years. He has been failed in the education system, in terms of addressing his social interaction needs, his confidence and self-esteem, the systemic low-level bullying and, not least, his ability to achieve academically. If our son had his head on back to front or had two of them, people might start to appreciate there were difficulties."

Autism experts and people with the condition are fond of speculating what great historical figures may have been on the spectrum in the centuries when it wasn't identified. Isaac Newton and Vincent Van Gogh, Albert Einstein and Jane Austen are frequent contenders. But perhaps one of the most important people in the modern story of autism was Dr Lorna Wing's own daughter Suzie. Her birth in 1956 pushed her mother, a psychiatrist, into a field which she came to dominate, along with Dr Judy Gould, and push forward dramatically, becoming the first to identify the spectrum and to understand how many children and adults it affects. Current estimates vary from one in 88 to one in 100 children.

Now 83, Wing regrets not having more of an idea of what autism was when her daughter was very young.

"I might have been more patient, more understanding I suppose. Back then in the 50s and 60s parents had no access to any literature or any understanding of why these children behaved like this. But of course we managed to make a few breakthroughs," she said. Wing's and Gould's work remain at the forefront of how autism is understood.

"What autistic people through history have contributed to the human race and to science and culture is so phenomenally important – they have made such a big difference to the world – that it is probably one of the reasons that the condition is still with us," said  Wing.

"Whilst we shouldn't underestimate the huge problems people at the severe, mentally retarded end of the spectrum and their families face, at the other end are people who have something utterly unique to add, who are contributing enormously to human progress.

"My own daughter died three years ago and I miss her terribly. Now I just hope that I live to see the answer to this condition – what makes the brain behave this way?

"I'm certain there's a neurological explanation to be found soon. And when it is, I hope we will learn to celebrate those who are different, look after them as they deserve and value them," Wing said.

"It's clear that there is a reason autism is still with us, down through the ages, and I often think that the condition remains because of that huge value that autistic people bring."