Jenny Agutter carries a faulty hereditary gene no one in her family ever knew about.

It was only after her niece Rachel was diagnosed with cystic fibrosis that she discovered she carried the mutated gene which can cause the disease.

“The first I knew about cystic fibrosis was when my brother rang having discovered that his daughter, his first child, had CF,” she says.

“When she was born he was absolutely delighted, they were both over the moon. And then they went through three or four months of seeing her struggle to survive.”

Longer life

Survive she did. Indeed, her aunt describes her as an energetic party-goer.

“The median age to which people lived at that time was nine years. Now they talk about the median age as being 30.

“My niece is now 31. She has to work hard on her health, but she is terrific.”

That does not mean that life has been simple.

“My niece has been in and out of hospital but I think what the most scary time is when suddenly a CF sufferer does actually grow up and is suddenly in charge of their own life.”

A bout of illness before Rachel started university threatened to derail her plans, but she pushed on through and now works as a photo researcher for a magazine, “a job she loves”.

Family secret

Jenny decided to have herself tested for CF when she became pregnant with her son 20 years ago.

The test revealed that, like her brother she was also a carrier of a faulty version of the cystic fibrosis transmembrane conductance regulator gene (CFTR), which causes CF.

But a test of her husband revealed he didn’t carry the mutated gene, which meant their children would not be at risk.

“It takes two people with the one single gene to create this problem with CF, so my brother is a carrier and his wife is a carrier, and it turns out I’m also a carrier.”

The discovery has also left her wondering whether both her parents were carriers. The fact they lost two children soon after birth with complications resembling those associated with CF, makes her think that the babies probably did have the disease.

Gene hope

Jenny is now actively engaged in her work as a a patron and trustee of the Cystic Fibrosis Trust. She is optimistic for the prospects for sufferers, buoyed not least by the impact better treatment and medication has had on the number of years those with CF can now expect to live.

But she believes much more can still be done, and is hoping gene therapy could bring a breakthrough.

“The very exciting thing right now is that they are looking at changing the make up of the lung with gene therapy,” she says.

“Most people who who have CF die with lung disease – about 90%. So if you can keep the lung healthy you can basically create an ordinary life for the CF sufferer.”

The ultimate aim, she says, must be a full life without fear.

“[Rachel] lives day to day as does anyone with CF. They don’t know what is going to happen.

“If they get ill it can be a virus that will just kill them and that can happen at any time, and that is very difficult for any family to live with.”

“I would love the possibility that people would live without this life threat. It makes a big difference to the way you live.”

The diagram shows how CF is inherited. Where both parents carry the faulty gene, each child has a one in four chance of having CF, a two in four chance of being a carrier and a one in four chance of not having any CF genes

Jamie Ponsonby cannot speak, and for years he was trapped in his own world.

But his family taught him to type and now the 13-year-old, who has autism, can not only express himself, but also write poetry.

His mother, Serena, said this had enabled them to finally communicate with Jamie and to understand him better.

“We had no idea that there was a person in there who knew everything,” she said.

Humorous and emotional

“Through the typing we have discovered he knows all sorts of things.

“He is completely on the ball, his sense of humour is completely all there. He has beautiful poetry, his feelings and emotions are all perfectly normal and above average for his age.”

Richard Mills, Research Autism’s research director, said that cases like Jamie’s are relatively unusual.

He said a method called facilitated intervention was first introduced in Australia in the 1970s, where someone supports a client’s hand, wrist or arm while that person uses a communicator to spell out words, phrases or sentences.

But Mr Mills said this had proved highly controversial when it was independently reviewed.

But he said independent typing did work for some.

“We know that people with autism often need a lot of processing time.

“They need things to be visual, so words typed via a keyboard tend to be better.”

Serena, from London, said that although Jamie’s typing is slow – it took him two weeks to type his autism poem – he is speeding up and needs less prompting to write.

She realised there was a problem with her son when he was around 18 months old.

An extract from Jamie’s autism poem

Do you know the real world of autism

Do you know how it feels to be autistic

Do you know what it means to be autistic

Go to my world, you will see

Go to my world, you will know

Go to my world, you will hear

Go to my world, you will feel it

Go to my world, you will detect

Go to my world, you will find out Go to my world, you will discover

“He was diagnosed at two-and-a-half, but from 18 months I knew something was not right. He used to love music but he would start screaming when I took him to music lessons,” she said.

Over the next few years Jamie lost more and more skills, including speech. He had limited signing ability, so communication became difficult.

Serena said: “We started him typing at nine after I read a book about someone who found it easier to type, even though she could talk.

“It struck a chord and I thought maybe it would just be a different pathway.

“We started getting him to type the words he knew how to sign and made very, very slow progress. We often thought of giving up.

“After a couple of years he started reading signs and we saw that he could read.

“We started asking him questions and he would type all sorts of things we had no idea he knew.

“As a family it has allowed us to know there is someone there who knows everything that is going on.

“He loves going travelling, and if you know he is getting something out of it your patience is increased.

“You don’t talk to him as someone who doesn’t understand – his self esteem and confidence are miles better.”

Scientists today say they are on track to establish the genetic triggers for autism, paving the way for earlier diagnosis of children who could be at risk of developing the condition and opening up the possibility of inventing new drugs and treatments for the condition.

The identification of a range of rare genetic mutations by an international collaboration known as the Autism Genome Project, involving scientists in the US, Canada and Europe, will further undermine the arguments of those who have claimed that the MMR vaccine, against measles, mumps and rubella, is somehow to blame.

Geri Dawson of Autism Speaks, a charity that helped to fund the research, said that the findings would bring hope to many families who struggle with autism on a daily basis. “What is critical now is to translate these basic biological findings into clinical tools for early detection and treatment.” This would allow children to be helped earlier in life. “We’re now developing behavioural interventions for infants and toddlers who are at risk for autism,” he said.

In the largest study ever into the genetics of autism, the scientists identified rare genetic variations that were 20% more frequent in children with autism than in children without the disorder. These so-called “copy number variations” (CNVs), which can be missing chunks of DNA or extra copies of sequences in and around genes, occur in less than one in 100 people in the general population.

In the study, scientists compared the incidence of these rare CNVs in 996 people with autism spectrum disorders and in 1,287 unaffected people, all with European ancestry. The results, published today in Nature, showed that some of the CNVs were inherited while others were found in children but not in their parents.

Stephen Scherer of the Hospital for Sick Children in Toronto, Canada, said that the research would lead to a paradigm shift in assessing the causes of autism. “Most people in the field believed that autistic individuals shared common genetic variations in just a few genes,” he said. But the research suggests the genetic variations are actually rare. “Most people with autism are probably genetically quite unique, each having their own genetic form of autism. As we discover more of these variants, the number of cases of autism that we can explain increases substantially.”

Identifying the genetic causes means that doctors could develop tests for babies who may be considered at risk of autism based on their family history. “Currently, autism diagnosis is entirely behavioural and lengthy and parents are subjected to a long process where their child is being assessed,” said Louise Gallagher of Trinity College Dublin. “Some children are not getting the diagnosis until as late as five years old. With earlier detection, these children could get earlier interventions, which may limit the severity of the condition.”

Genetic risk is a big issue for families, said Gallagher, as many parents want to know what their risk of having another affected child might be. “With these findings, a proportion of families will be able in the future to get more precise genetic counselling,” she said. “However, it is very early days and we’re not suggesting that pre-natal testing is appropriate because the penetrance of some of these CNVs is incomplete – they may not affect people equally. What we’re saying here is that there’s the potential to identify children at greater risk and to institute earlier intervention.”

Discovery of a major genetic underpinning for autism will help further allay parents’ fears of a sinister environmental cause, such as the link that was proposed by Andrew Wakefield in a paper in the Lancet in 1998. The General Medical Council recently struck him off the medical register over his research ethics. But some parents of autistic children continue to believe he has been the scapegoat for a vaccine scandal, in spite of the absence of scientific evidence for his claims.

The work will also underpin a better understanding of the physiological basis for autism. The risk genes identified in the latest studies are involved in brain functions and knowing what their altered effects are will give scientists targets for therapies. Rare CNVs are also known to play a role in other learning disabilities and in mental health conditions such as epilepsy and schizophrenia.

Anthony Monaco of the University of Oxford, who was part of the consortium, said there was still much more to do to identify the full suite of genetic causes of autism. “This consortium of scientists has been trying to put together a very large jigsaw puzzle without the benefit of having a nice colourful picture on the box. In this paper, the CNVs we found framed this jigsaw puzzle. They give us an idea of what the picture may look like.”

Disabled entrepreneurs who have started businesses throughout the UK are being urged to enter the Stelios Disabled Entrepreneur of the Year 2010.

The annual scheme, run by Leonard Cheshire Disability and sponsored by easyGroup chairman Sir Stelios Haji-Ioannou, is now in its forth year. A top prize of £50,000 will be given to the winner in November.

“I am very passionate about encouraging an enterprising spirit and decided to work with Leonard Cheshire Disability to set up the award in 2007,” said Sir Stelios.

“With 50% of disabled adults out of work, removing barriers disabled people face in business is essential. Self employment is the only viable option for many disabled people as it offers flexibility and helps bypass much of the prejudice that sadly still exists.”

Last year’s top prize went to John Pickup who set up Amputees in Action, a business that specialises in supplying amputee extras and stuntmen for film, television and armed forces casualty training.

Speaking about his win, he said: “£50,000 has meant I’ve been able to invest in my business and over 12 months put in a lot of hard work to watch it grow.

“Winning the award, and the support I have received from the Stelios Philanthropic Foundation and Leonard Cheshire Disability, has given Amputees in Action kudos and more importantly confidence to succeed.”

Closing date for entries is Friday 3 September. For more information on how to enter visit www.disabledentrepreneur.org

Police officers in the Lothian and Borders area have been given guidance in what not to say in the course of their duties.

The list of “do’s and don’ts” is on Lothian and Borders Police’s internal webpage.

It warns against pensioners being called “old biddies” or gay people “batting for the other side”.

The Appropriate Language Guide, tells officers to avoid insulting members of the public by using offensive terms.

A Lothian and Borders Police spokesman said: “The appropriate language guide was produced by the force to compliment the diversity training course that all staff attend.

“There is an expectation that all officers and staff will respond appropriately when dealing with the diverse communities we serve.”

However, the guide has been criticised by Bill Aitken MSP, Tory justice spokesman, who said officers in a modern force would be aware not to use terms such as “Mongol” or “coloured” while dealing with the public or colleagues.

He said: “There are complaints about police budgets, but apparently Lothian and Borders Police seem to have the time and the money to waste on politically correct and esoteric matters.

“They should cut this nonsense out and have a few more officers patrolling the streets of Edinburgh.”

A spokeswoman for Age Scotland said: “We would hope that police officers don’t need to be told that terms such as ‘fool’ or ‘biddy’ are offensive, whether age is an issue or not.”

In the guide it reads: “You should be aware that some people may not enjoy being referred to as “one of the boys” or “one of the girls.

“In a similar way, you need to be aware that terms such as “dear”, “pet”, or “love” can be devaluing and patronising, particularly when used by older staff towards younger staff. They are best avoided.”

The guide also warns that terms such as “Afro-Caribbean” or “African-Caribbean”, although used in the force’s official documents, “can prove offensive to those of African or Caribbean ethnicity who have been born in Britain”.

The guide also advocates language which is “direct, factual and, therefore, professional”.

It adds: “Phrases such as “a person of the other persuasion”, “a woman with lesbian tendencies” and “he/she bats for the other side” should be avoided.”

Carl Watt, director of Stonewall Scotland, welcomed the guide, and said: “Lothian and Borders Police have a track record of working to build trust with the lesbian, gay, bisexual and transgender community and making great efforts to ensure everybody is treated equally and fairly.”

Negative reactions are as expected- people who’ve never experienced a verbal insult don’t have a clue how painful they can be. I, however, know the power of a verbal insult to cause pain. I think this is progress, and is as important a part of training for police officers- or anyone, really- as any other. Any thoughts?

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Prince William is set to attend a ceremony to mark the opening of new facilities at armed forces rehabilitation centre Headley Court.

The Help for Heroes centre features a range of resources including a new swimming pool and gym.

Major Stacy McQueeney said Headley Court was now “at the forefront of medicine” and “clinical management”.

The Surrey facilities were built using money donated by the public to the Help the Heroes charity.

This funding prompted Maj McQueeney, who is the officer in charge of the centre for lower limbs rehabilitation, to say: “It puts into our hearts and our minds a recognition that the public supports the services and supports the staff and the patients.”

Prince William and his brother Harry have previously met patients being treated at Headley Court after being injured in conflicts in Afghanistan and Iraq.

The centre began its work after World War II for RAF personnel, but in 1996 became the main UK military rehabilitation centre for all three armed forces.

The site provides consultants, physiotherapists, occupational therapists, speech and language therapists, social workers, a psychologist and a cognitive therapist.

Maj McQueeney, who has worked at Headley Court for three years, said the new facilities meant there would be a “multi-disciplinary team with technicians and clinicians working together in one building” on a daily basis.

Equity Annual Representative Conference 2010: Equity is to launch a public campaign to promote greater work for disabled performers, after the union’s ARC carried a motion complaining about the “serious lack of work” available to them.

The union’s ruling council is to update its casting policy so that it calls on production companies in TV, film and theatre to use disabled performers when casting disability-specific roles and to encourage employers to consider performers with disabilities for all roles. The motion, from the members with disabilities committee, was passed overwhelmingly.

Chris Webb, proposing the motion for the committee, said: “We don’t want someone to get a job purely and simply because they are disabled, all we want is for people to get an equal platform. If you go back a few years, and remember the time when you didn’t see any black faces on the stage in the West End or very many ethnic minorities on television, Equity campaigned for a long, long while and, as you can see today, that has changed enormously. All the disabled community want is for the same opportunities as was given to them.”

Scientists are opening a new front against autism by using drugs to alter brain chemistry that may ameliorate the worst effects of the condition.

At least three groups are experimenting with treatments which, it is hoped, could help individuals acquire language and social skills enabling them better to communicate.

Autism, which overwhelmingly affects boys, has been described as the “extreme male brain” – characterised by a love of routine, poor social understanding, a lack of warmth and a disregard of human contact.

Drugs currently prescribed are chiefly aimed at controlling aggression and anxiety, which afflicts some of those affected. But trials of new drugs which target the classic symptoms of autism are now beginning.

Initial results from a small trial of a drug called arbaclofen, presented at the International Meeting for Autism Research in Philadelphia last week, suggest it may improve social skills in people with fragile X syndrome and autism, including communication and sociability, and reduce outbursts of irritability. Fragile X affects one in 3,000 people worldwide and is the most common genetic cause of autism, with a quarter of fragile X males affected.

Randall Carpenter of Seaside Therapeutics in Cambridge, Massachusetts, which is testing the drug, told New Scientist: “People may learn more, learn to speak better, learn social skills and to be more communicative.”

The researchers were working on the hypothesis that the absence of the fragile X gene causes disorders of synaptic function – disorders at the junctions or synapses between the nerves – and that this may also be the cause of the autistic symptoms. A successful treatment for fragile X may therefore also be effective in alleviating autistic symptoms. The trial involved 63 subjects aged between six and 40.

Elizabeth Berry-Kravis, who led the study at Rush University Medical Centre in Chicago, earlier treated a separate group of fragile X patients with a different drug, fenobam. Some patients showed calmed behaviour, reduced hyperactivity and lower anxiety, similar to the drug’s action in earlier studies on mice.

“Currently there are no therapies on the market to treat cognitive deficits associated with fragile X syndrome. This pilot study [of fenobam] has identified the potential beneficial clinical effects, but further study is needed.”

In a third development, scientists in France reported in February having tested a nasal spray containing the hormone oxytocin on 13 patients with “high-functioning” autism – those with normal or above-normal intelligence. Participants who inhaled the hormone were able to interact more easily with others.

“They respond more strongly to others and exhibit more appropriate social behaviour,” wrote Elissar Andari, of the Institut des Sciences Cognitives, a French centre for neuroscience research.

Oxytocin is known as the “cuddle chemical”, because it is believed to stimulate bonding between mother and baby at birth. Now a second study, led by Evdokia Anagnostou, a child neurologist at Bloorview Research Institute in Toronto, Canada, presented at the Philadelphia meeting last week, found that people with autism given the hormone twice daily for six weeks improved their social functioning. The researchers found they were better at recognising emotions and had a better quality of life than others given a placebo.

Geraldine Dawson, the chief science officer at the US charity Autism Speaks and a psychiatrist at the University of North Carolina at Chapel Hill, said: “For the first time we are seeing drugs that could tackle core autism symptoms.”

But Suzi Browne, a spokeswoman for the National Autistic Society in the UK, warned: “While there are recognised links between some forms of autism and fragile X syndrome, there are many other causes of autism, most of which are not yet fully understood.

“As the nature of autism is so complex, many interventions have been tried and tested over the years, but what works for one person won’t necessarily work for another. While it is important to further our understanding of the connections between fragile X and autism, further rigorous research is required into any potential intervention, to properly understand and assess the impact that it could have on people’s lives.”

This is a truly inspiring and beautiful story. Chloe and her family have my best wishes.

A teenage girl who has been fed through a tube for her whole life has finally eaten her first meal following a double lung transplant.

Chloe Baker, 14, suffers from cystic fibrosis and survived on high calorie milk for 13 years. But after her successful major operation she has discovered a love of curries.

Four months ago the youngster was too weak to walk, breathe or even eat unaided and relied on a wheelchair and almost constant oxygen to get by.

The chronically ill schoolgirl struggled to swallow food and had been fed through a tube directly into her stomach since she was 12 months old.

Last summer Chloe’s condition deteriorated even further when she was diagnosed with a bacterial infection and doctors warned she would die unless she received new lungs.

Two weeks after being put on a transplant list in January her parents received a midnight phone call to say a donor had been found for the difficult and dangerous surgery.

Chloe was rushed to Great Ormond Street Hospital at 2am on January 31. She underwent a ten hour operation while her family waited anxiously to hear if she would survive.

Despite the transplant only having a 50 per cent chance of success Chloe was eating within days and walking again less than two weeks later.

And after years of not eating solid food, she has now developed an insatiable appetite for curries, especially her mum’s homemade Chicken Tikka Masala special.

Delighted mum Christine, 46, said Chloe’s progress was “unbelievable” and the youngster could finally enjoy being a normal teenage girl.

Pre-school assistant Christine, from Milton Keynes, Bucks., said: ‘Sometimes I think fate must have stepped in to lend a hand. She was only on the transplant list for two weeks when we got the call.

‘A week before the operation I remember looking at her and thinking she was going to die. Even getting out of bed and going to the toilet was exhausting.

‘She was fed through a tube because it was less tiring. Chloe used to struggle to eat one chicken nugget and a couple of chips, it left her completely drained.

‘But once she discovered the joys of food after the operation there was no stopping her.

‘Curries are her favourite. My sister even used to take her poppadoms to eat in hospital after she had the operation.

‘They say sometimes children with cystic fibrosis have funny taste buds, and Chloe obviously has a taste for Indian.

‘She could never enjoy it before but now she loves Indian food, especially my homemade version.’

Cystic fibrosis is an inherited life-limiting condition that affects around 8,500 people in the UK.

It affects the internal organs, especially the lungs and digestive system, by clogging them with thick sticky mucus making it hard to breathe and digest food.

Chloe was diagnosed at four months old and as she was a particularly severe case, needed a transplant a “last resort” to prolong her life.

Christine said as she, husband Chris, 49, a kitchen designer, and sister Rachel, 18, were shocked when a donor was found within two weeks rather than the usual seven months.

But because Chloe was so ill with the bacterial infection her procedure had added complications.

Christine added: ‘It was so hard just waiting to hear how it went. Although we were all positive you could not help but feel sick inside with worry.

‘The relief when they said the operation had been a success was indescribable. Nothing else we do in our lives will come close to how we felt over that ten hour window.

‘Since then she has gone from strength to strength. It’s incredible.’

Chloe has now returned to school, spends time with her friends and no longer needs daily intravenous drips.

She had also achieved her simple but previously impossible personal ambition, of taking her dog Poppy, a Tibetan terrier, out for a walk.

The brave youngster said since the transplant she is determined to make every moment count.

She said: ‘It’s just amazing to hang out with my friends, meet up in the park, walk home from school, and take my dog out.

‘And I love being able to enjoy my food at last, going out for a curry is a treat whereas it used to be too tiring to eat.

‘Before all I thought about all the time was breathing. Now I don’t even notice it, I just do it like everyone else.

‘I was quite scared before the operation and I wasn’t sure if I wanted to go on the transplant list. But it’s all been worth it.’

For more information about cystic fibrosis visit the Cystic Fibrosis Trust website

The doctor who first suggested a link between MMR vaccinations and autism has been struck off the medical register.

The General Medical Council found Dr Andrew Wakefield guilty of serious professional misconduct over the way he carried out his controversial research.

It follows a GMC ruling earlier this year that he had acted unethically.

Dr Andrew Wakefield’s 1998 Lancet study caused vaccination rates to plummet, resulting in a rise in measles – but the findings were later discredited.

The GMC ruled in January he had acted “dishonestly and irresponsibly” in conducting his research.

The case did not investigate whether Dr Wakefield’s findings were right or wrong, instead it focused on the methods of research.

The panel which made the ruling criticised Dr Wakefield in January for the invasive tests that were carried out on children against their best clinical interests.

It said Dr Wakefield, who was working at London’s Royal Free Hospital as a gastroenterologist at the time, did not have the ethical approval or relevant qualifications for such tests.

The GMC also took exception to the way he gathered blood samples. Dr Wakefield paid children £5 for the samples at his son’s birthday party.

It also said Dr Wakefield should have disclosed the fact that he had been paid to advise solicitors acting for parents who believed their children had been harmed by the MMR.

Two of Dr Wakefield’s former colleagues at the Royal Free were also ruled to have broken guidelines.

Professor John Walker-Smith and Professor Simon Murch both helped Dr Wakefield carry out the research. They will also learn of their fate.

After the January verdict, Dr Wakefield, who now lives in the US, said he was “extremely disappointed by the outcome” as the allegations were “unfounded and unjust”.