A lovely smile that masks an uncertain future for Hannah

PARENTAL instincts first alerted Naz Hussain and his wife Sadia to signs their daughter Hannah was ill.

They noticed little things others would miss in their outwardly healthy toddler such as the way she was holding a pencil or walking.

Their concerns were further fuelled as Mr Hussain's niece had been diagnosed several years earlier with a form of ataxia, a rare and incurable neurological illness which affects around one in

100,000 people.

They consulted specialist doctors in Bradford and blood tests confirmed the family's worst fears that she had also inherited the condition.

Mr Hussain, 34, a media sales manager, said they do not know what the future holds for their daughter, now six. At the same age his niece was already confined to a wheelchair and fed through a tube with no speech. She died, aged only nine, in 2007. Most children with the condition do not survive beyond their teens.

"We did have suspicions – it was a parent's gut instinct," he said.

"There are different levels of the illness and she displays milder symptoms than my niece and does all the normal things that a child does.

"We've learned to live with taking it day by day. We've got no preconceptions but we know it can deteriorate quite rapidly. With anything in life, what will happen will happen."

Ataxia, alongside other illnesses such as cystic fibrosis, is a recessive condition which only occurs if a child inherits two copies of a disease-causing gene – one from each parent.

If both parents carry the defective gene, children have a 25 per cent chance of being affected but the couple's eldest son Adam, nine, does not have the condition.

In communities where disease-causing recessive genes are more common, the risk of a child inheriting two copies may be increased if the parents are related, perhaps as much as doubling if parents are

first cousins.

Research in Bradford suggests marriage between blood relatives is one factor in this. Babies in the city are more than five times more likely to die from a recessively-inherited condition than those born in other similar areas.

Mr Hussain and his wife Sadia Nazir, 30, are not related. But the discovery of Hannah's illness came in time for blood tests to be carried out when Sadia became pregnant with the couple's third child last year. These confirmed the defective gene was not present and baby Ryan, now eight months, was born without the condition.

"For us, this was an absolute no-brainer. It was something we had to do so we knew in advance what the situation was and, fortunately, the result was negative," said Mr Hussain.

"If there was a high chance of there being a mutated gene, we would have considered an abortion."

Work by scientists to identify defective genes enables couples to make informed decisions about starting or expanding families – as well as helping relatives who might also run the same risks before they decide to have children themselves.

Mr Hussain's sister has been able to check she is not marrying someone with the same gene while his wife now knows she has a higher risk of some cancers.

Their sons could also be carriers and will be able to get tested if they wish after they turn 18.

Now research in the field is being enhanced in a major initiative launched by Leeds University and St James's Hospital, Leeds.

Scientists from the Leeds Institute of Molecular Medicine and the Yorkshire Regional Genetics Service plan to identify more genes in a five-year research programme following a 1.2m grant from the Sir Jules Thorn Charitable Trust.

This will recruit local families to help find new disease genes and translate these discoveries into the development of new diagnostic tests for patients.

Geneticist Colin Johnson, lead researcher on the project, said: "For those families with a recessive condition, knowing which gene is defective can really help with diagnosis, treatment and in counselling them about the genetic risk to future pregnancies.

"However, for many conditions, families can't have these benefits, because we just don't have the basic scientific knowledge about which gene is disease-causing or even where it is in the human genome."

He said around 6,200 genetic conditions have been found but more than half do not have an established cause. Scientists in Leeds had so far uncovered around 100 faulty genes but the process was painstaking

and difficult.

On one occasion he had discovered one faulty gene within five days – but the search for another took his team five years.

In the future scientists hope to develop tailor-made genetic therapies which will suppress the effect of mutations. Work on defective genes could also help give experts information about how other diseases including some cancers are caused.

"In terms of the technology we are pretty cutting edge and as good as anybody out there with good links to clinics and local patients," Dr Johnson said.

"It is a partnership because without the help of families, we don't find genes.

"If people are willing to help, we can help other families in the not too distant future, while these rare conditions also give us insight into other common conditions.

"We don't want to raise false expectations but the knowledge is empowering and allows people to make choices."

For now, Hannah's family face a wait to see how her symptoms develop and are particularly grateful to NHS staff in Bradford.

She was diagnosed just days after Mr Hussain began a new job in Dubai. The family decided to go ahead with relocating there, only to return two years later.

"We couldn't get the level of care the NHS provides," he said.

"I know it's something a lot of people criticise but when you're abroad you do miss it."

He added: "There needs to be a lot more openness about genetic disorders like this because of their severity, coupled with the fact genetic recessive illnesses like ataxia could hold the key to cures for cancer.

"Knowing in advance at least gives you the ability to make decisions. For me personally, I feel very passionately that is the best way of stopping genetic illnesses and I do encourage other people to do it."

The fight against rare diseases

A rare disease is one which affects fewer than one in every 2,000 people.

But there are more than 6,000 rare diseases so one in 17 people has a rare disease – around three million people in England alone.

Sir Liam Donaldson, the outgoing chief medical officer, noted in his most recent annual report that "rare is common" and was an important cause of illness and death.

Many are severe and life-threatening and their symptoms start in childhood.

His report said around four in 10 people reported difficulty getting a correct diagnosis.

Many with rare diseases did not have access to specialist services, causing delay in diagnosis, slow treatment and isolation for affected individuals and their families.

More and more children with rare diseases survived into adulthood due to improved treatments but services were lacking.

He recommended better co-ordination of specialist services, more incentives for research into "orphan diseases" and national standards for the surveillance and treatment of conditions.