Parents win tough battles for special needs boy

Whenever 12-year-old Luke Attard rides his bicycle or cracks a joke his parents can barely believe he is the same boy who doctors said would never walk or talk.

Having been misdiagnosed with cerebral palsy as a baby, Luke suffered irreparable brain damage that may have been fatal had his parents not followed their instincts and questioned the initial diagnosis.

When Luke was about 18 months old his parents, Therese and Alex Attard, learnt that he suffered from a rare form of the genetic disorder called phenylketonuria (PKU), which was inherited by him and, later, two of his three brothers - but which can be treated if caught in the early months.

"I explain to the other two children that, thanks to Luke, we knew what they had when they were born. Had we not found out I would have lost three children and nobody would have known why," their mother said. Last week a UK High Court awarded Luke £4.25 (€5.38) million in damages after paediatric neurologist Gwilym Hosking, of London's Portland Hospital, accepted liability.

Dr Hosking, who has since died, misdiagnosed Luke when he failed to carry out a routine blood test that would have revealed the condition and allowed Luke to have a normal life - like his brothers' who were diagnosed in time.

Speaking to The Times in a telephone interview Ms Attard, who now lives with her family in St Leonards in East Sussex, recalled her and her husband's excitement on becoming pregnant with Luke.

The pregnancy and birth ran smoothly but as Luke started growing his mother realised he was not developing at the same rate as her friend's baby.

The Attards took their new baby to a private paediatrician who told them he was fine. But when he was six months old, Ms Attard noticed he was regressing and went to the paediatrician again. At the time she was pregnant with her second son, Sam.

"He just looked at Luke and was very cold and said: 'Luke's got cerebral palsy'... That's when the nightmare started," the mother recalled.

That day, as she was at the hospital ward, the hopeful mother looked around for another paediatrician to get another opinion. When the first paediatrician noticed, he told her he had already told her what was wrong and she should not waste other doctors' time.

But Mr and Ms Attard felt the need to get a second opinion and decided to go to England where they spoke to Dr Hosking, at Portland Hospital. He did not perform any tests and relied on what was said in Malta, confirming that Luke had cerebral palsy.

The parents travelled back to Malta where they started treatment for the condition but the boy did not improve. Then they managed to get an appointment with a UK consultant from London's Great Ormond Street Hospital who was visiting at St Luke's Hospital.

"He commented that Luke was severely disabled and we were very upset. We wanted to know if there was anything we had done wrong... He said he would do a set of tests to put our minds at rest and asked us to come to England to start a series of injections," she recalled.

A few days before the Attards were to leave to London she called the hospital to ask about the test results and was told to go to hospital.

"I thought nothing of it. My husband was at work and I went with my sister. Once there I got the feeling something was wrong... When I went in to speak to the doctor I was told that he had PKU. I had no idea what it was. The doctor tried to explain in simple terms.

"All I could think was: so you're telling me my son was born 'normal' and, because nobody noticed, he is as he is?'," she said.

At the time Luke was nearly 18 months old. He was referred to Great Ormond Street Hospital where he started treatment for PKU and, within a week, he started improving. "He started regaining head control. It was like he was born again. But the damage had been done and we were told he would never walk or talk... At least we knew what was wrong with him."

Luke started medication and a special diet. At the age of three he started walking and even talking although with some difficulty.

Things progressed really well and Luke even started going to school. But when he was just over five he started suffering from a rare form of epilepsy which turned out to be caused by the damage he suffered as a baby.

"We had just got over the first hurdle and were now faced with the epilepsy. He was deteriorating very quickly. He stopped walking and talking. No anti-epileptic drugs were working. We thought we had lost the battle after we'd managed to get the right diagnosis," she said.

Determined to keep fighting, Ms Attard read about a new operation being performed that involved inserting a nerve stimulator device under the skin to prevented seizures by sending pulses of electrical energy to the brain.

After some convincing the Maltese government agreed to fund the operation and the family decided to move to the UK in the best interest of Luke who would need adequate aftercare.

The operation was performed and the device installed into Luke's small body in July 2003. All went well and, on August 15, it was switched on and the seizures reduced drastically.

"It was a miracle to us. I know it's going to sound strange but on Il-Vittoria we turned it (the device) up slightly and, from that day on, he has had no fits. Even the doctors can't believe it. They call him the miracle boy because they can't explain it. They weaned him off the anti-epileptic drugs slowly and he is now only on the PKU drugs.

"Now he can walk, ride a bicycle, he plays football for a special needs team. He still has his problems as, cognitively, he's still delayed but he has a sense of humour. He knows when and where to joke," she laughs. Today Luke has three brothers. Sam, 11, is clear of PKU whereas Thomas and Gabriel, eight and two, both have the condition. However, they have been treated since birth and lead a normal life with the only difference that they are on a special diet and take PKU medication.

About 10 years ago, the Attards initiated legal proceedings against Dr Hosking for negligence that led to Luke's misdiagnosis. Routine post-natal screening for increased levels of phenylalanine is carried out in British hospitals but, at the time of Luke's birth, these tests were not carried out in Malta. Initially Dr Hosking's solicitors tried to rope in the Maltese doctors to divide legal responsibility but failed as the two-year medical liability had elapsed.

In May 2006 the Attards and Dr Hosking - who died in October that year - reached a settlement on the basis that he was 90 per cent liable. According to the agreement damages were to be paid by insurers. The family was represented by solicitor Jacqui Hayat from Hodge Jones and Allen and senior barrister Martin Spencer.

The case reached the High Court last week where the judge agreed upon the £4.25 million settlement. Ms Attard added that before Dr Hosking passed away he sent her family a letter apologising for all the pain he had caused. However, she felt hurt that the Maltese private paediatrician who first diagnosed Luke never showed any sign of remorse.

"One thing we want to make clear is that that money is not our money. That money is Luke's money and it is protected by the court. It's for his life," Ms Attard said.

PKU in Malta
Study conducted by Paediatric Department and University of Malta

PKU is an inherited genetic condition caused by a defect in a particular enzyme in the body that works to process an amino acid (phenylalanine) found in many foods, according to www.pku.com.

Too much of this amino acid is toxic to the brain and high levels over an extended period of time can lead to vomiting, irritability, eczema, seizures, psychological behavioural issues and severe mental retardation.

Luke Attard's condition was the first case of PKU diagnosed in Malta in 1996 and, since then, there have been another three cases, said Simon Attard Montalto, chairman of the hospital's Paediatric Department.

He explained that the practical and medical issues relating to PKU are complex and, currently, there is no national screening programme for PKU.

A pilot study conducted by the department and the University of Malta suggested that, statistically, more cases of PKU should be identified in Malta but this estimate has not been observed over the past decade. As a result there is insufficient data to support screening on a national level.

Apart from that, Prof Attard Montalto explained, the type of PKU diagnosed locally constituted a very rare subtype of this condition.

This created a practical problem since the "Malta PKU variant" may not be picked up and cases would be missed using the routine screening test employed to detect the more common type of PKU, such as that employed in the UK where PKU is common.

Although the possibility of a national screening programme for PKU is under discussion, he explained, the issue is complex and the Health Authorities could not recommend a national screening programme in which all babies are tested using a locally inappropriate test.

He further explained that couples who wish to test their newborn for PKU may do so voluntarily and this is recommended in children born to parents from countries where PKU is known to exist far more commonly.