Teenage CJD victim improves with experimental drug

An experimental treatment on a teenager dying of the brain disease vCJD has slowed the progression of the condition, doctors reported yesterday.

Jonathan Simms, 19, of west Belfast, had been given months to live when he became the first patient in the world with variant Creutzfeldt-Jakob disease to have the treatment after it was approved by the High Court in December last year. The treatment involved an infusion of the drug pentosan polysulphate directly into his brain. The drug, previously used for bladder and bowel infections, is not licensed in Britain, but experiments in mice had shown it could slow the disease.

A conference of specialists held in Belfast heard that Jonathan had shown "small but significant signs of improvement". He had recovered the ability to swallow and could respond to verbal instructions.

Although he requires round-the-clock nursing care and there is no expectation that he will recover, doctors involved in his case say his progress is encouraging.

Dr Mark McClean, the family's GP, said had the drug been administered to Jonathan earlier, he would have retained more of his brain function.

"It is extremely unfortunate that we waited for eight months before the treatment was given. During that time he deteriorated markedly. If he had received the drug earlier in this disease then maybe the brain deterioration would have been halted," he said. He added that if he were diagnosed with vCJD "I would ensure I received this treatment as soon as humanly possible".

Yesterday's conference, attended by two specialists from Japan, was organised by Don Simms, Jonathan's father, who campaigned for two years to get treatment for his son. He and his wife, Karen, became aware something was wrong with their eldest son two years ago, in September 2001.

Mrs Simms said: "He started bumping into things. My husband was the first to notice. When Jonathan came home in the evenings he would hold on to the banisters and door frames. His balance had gone."

Their first thought was that he had been drinking or taking drugs. But the 17-year-old denied it. He was athletic and physically well co-ordinated and an accomplished footballer. He had had several trials with English clubs and was playing for the Northern Irish club Glentoran when he was taken ill.

Mr and Mrs Simms, both 45, have six other children. They took him to the local GP who suspected multiple sclerosis.

The following weekend Jonathan got suddenly worse and was admitted to the Royal Victoria Infirmary. Doctors ran a series of tests and by Friday they had the diagnosis - variant CJD, the human form of BSE, for which the average survival from diagnosis was 14 months. The Simms knew that there was no cure.

"I was shattered," said Mrs Simms. Don decided to teach himself everything there was to know about vCJD. He gave up his job as an electrician and began trawling the internet and calling specialists around the world. "Our phone bills have been coming in at £800 and £900. Don was working 12 and 14 hour days. It became his life," said Mrs Simms.

Initially Jonathan remained well but as his unsteadiness increased he became confined to the house. By January last year, he was in a wheelchair. The family decided not to tell him what was wrong. He had been devastated when he learnt he might have multiple sclerosis and they felt they could not deliver worse news. "We gave him a roundabout version of the truth. We told him a protein in his body had gone wrong and that was why he was ill," said Mrs Simms.

On 1 June last year, the family gathered for a big party to mark Jonathan's 18th birthday. The next day he was admitted to hospital with pneumonia and nearly died. He was in hospital for two weeks before being allowed home.

By Christmas last year, he was barely aware of his surroundings, being fed through a tube into his stomach. Then in January the experimental treatment with the drug pentosan polysulphate began.

Mr Simms had to battle to find a doctor prepared to give the treatment. Initially, a hospital in Germany appeared willing. As the air ambulance to transfer Jonathan was being prepared, the Germans pulled out. A UK-based neurosurgeon agreed to carry out the experimental procedure, but his hospital trust refused to allow it. It only became possible when a separate NHS trust agreed to allow the doctor to operate on their premises.

A High Court hearing in December gave authorisation for the operation - necessary because it involved carrying out an experimental procedure on a terminally ill patient who was incapable of giving consent.

Jonathan now has a small pump inserted under the skin of his stomach that delivers a constant low dose of the drug to his brain. He returns to hospital once a month to have the pump refilled. The family say there are small signs of improvement. "This morning, after everyone had gone and the house was quiet, he smiled at me, squeezed my hand and kissed me in response to my commands," said Mrs Simms.

A nurse comes each evening and, since the birth of Mrs Simms's new baby two months ago, in the mornings, too. Otherwise the family cares for him. "We all pull together and get by," said Mrs Simms. "We live each day as it comes."