Birth defects: 'My son has basically had enough of needles'

Underestimation means children do not always get the care they need

It is the first question on every new parent's lips: "Is my baby OK?". For between two and three in every 100 the answer is "No".

The shock and anxiety that response triggers is soon deepened when they become aware of the lack of support available to families with sick or disabled children – because for 40 years Britain has underestimated the number of babies born with birth defects.

Joshua Brooks was four before he was diagnosed with McCune-Albright syndrome, a rare condition causing a range of distressing symptoms from brittle bones to hyperthyroidism and for which there is no cure. Now aged 12, he had his 15th major operation at Great Ormond Street Hospital in London before Christmas, to straighten the bones in his legs. He has broken both legs twice, broken his arm and suffered numerous other fractures. He has daily medication to control his over-active thyroid gland and required surgery to save his sight when excessive growth of his skull pressed on his optic nerve.

He has been slow to develop physically and mentally and has grown increasingly resistant to the treatment that is essential to preserve some quality of life. His father, Gary, said: "He has basically had enough. Whenever he has to go to hospital he refuses to have the treatment done. He has developed a needle phobia."

The worst problem for Mr Brooks and his wife Jennifer has been obtaining after-care for Joshua. Their local physiotherapy service is overwhelmed and wrote to Joshua's surgeon in the autumn appealing to him to delay the latest operation.

The letter, from Gill Jones of Eastbourne Downs Primary Care Trust, dated 26 September, to Robert Hill, consultant orthopaedic surgeon at Great Ormond Street Hospital, said: "We must draw to your attention the fact that we will not be in a position to give Joshua the intensive rehabilitation he will need until after Easter 2003... I hope you will bear this in mind when considering the date for Joshua's operation."

The letter explained that the local paediatric physiotherapist "has had to close her caseload for the time being" because of the number of children requiring rehabilitation after surgery.

Mr Brooks, who has written to Tony Blair to complain about the situation, said Joshua's surgeon, Mr Hill, had refused to delay the operation because "he could not put Joshua's life on hold". He added: "That [the letter from the physiotherapy service] does not sound to me like an NHS that is having millions of pounds invested in it. Tony Blair seems to be taking this country the way of America – if you have not got private healthcare you do not get what you need."

The family has four other children, the youngest of whom, aged two, has Epstein's syndrome, a heart condition which will require surgery by the time he is six.

Birth defects can affect any part of the body – the organs, senses, limbs, or physical and mental development of the baby – and may be the result of genetic or environmental causes. Sometimes they are obvious – a missing finger, for example – but often they go undetected for years.

Heart conditions are among the most under recorded in the National Congenital Anomaly System because they tend to come to light as the child grows older. The four local registers in Wales, Trent, Mersey and North West Thames which are operating a new, more sophisticated data collection system reveal a rate of heart disorders more than three times higher than the national rate for England.