Last updated at 1:13 PM on 09th March 2009
A two-year-old boy who has been ill since he was a small baby has been diagnosed as the only British victim of one of the world’s rarest diseases.
Kian Baker from Gloucestershire, suffers from PNP deficiency, a genetic disorder which leaves him vulnerable to a variety of potentially fatal infections. There have been fewer than 60 cases documented worldwide.
After baffling medical experts since he was eight months old his condition has now finally been diagnosed and doctors have broken the news to his family that he urgently needs a bone marrow transplant to survive.
Mum Gemma Isaacs, 24, who has given up her job as a nursery assistant to care for Kian full time, said: ‘We started to notice that he had some developmental problems when he was 8 months old.
‘He had no balance and was struggling without making any kind of noise.
‘Over the past year he has contracted a string of serious infections. After two years of tests we have now finally been told what the problem is. In a way it’s a relief because now at least we know what has to be done.’
PNP Deficiency is caused by a lack of Purine Nuceloside Phosphorylase enzyme. People with the condition can also suffer brain damage.
While a bone marrow transplant can boost the immune system it does not correct or cure the neurological disorder.
‘Kian has to have regular blood transfusions and lots of antibiotics to give him some sort of immune system,’ said his mum.
‘He can’t go anywhere where there are lots of people – we have to keep him wrapped in cotton wool.
‘It has been difficult to research the condition because very few people know about it.
‘But from my research, unfortunately, it seems life expectancy is not more than 10 years. A transplant represents his only chance.’
Bone marrow transplants have had promising results in other children diagnosed with PNP.
Doctors at London’s famous Great Ormond Street childrens hospital have taken charge of Kian’s case and are searching for a suitable donor for him.
In the meantime, however, Kian is susceptible to common childhood infections like chickenpox, mumps and measles, any one of which could kill him.
Kian’s father Stephen Baker, a 24-year-old builder, said: ‘It’s difficult to get our heads around at the moment but we are trying to stay positive.
‘Before he was diagnosed we used to take him regularly on public transport to swimming pools where, we know how, he could have contracted a fatal infection at any time.’
Graham Davies., consultant immunologist at Great Ormond street, said: ‘PNP is an extremely rare metabolic condition which can affect the nervous system, leading to problems with movement.’