ADORABLE Qasim Chowdhury seems like any other little boy.
But the four-year-old has a rare genetic condition called Glycogen Storage Disease, known as Pompe disease.
The illness means his body cannot produce the enzymes needed to breakdown glycogen – a stored form of sugar used for energy.
It causes muscle weakness, poor weight gain and most infants with the disease die before their first birthday.
Qasim was diagnosed with Pompe in 2007 at only seven days old and three days later he started treatment, making him one of the first babies to receive treatment at such a young age.
Every two weeks the youngster has a drug called Myozyme pumped into his tiny body which acts as a replacement to the enzyme – a process he will need to continue for the rest of his life.
His mum Asma, 33, said: ‘We just have to take each day as it comes because we are never sure if he could start to build up antibodies to the drug.
‘These past few years have been block building and each year is a milestone. We never really know how he’s going to develop. At one point we thought he wouldn’t walk, but he’s reached four now and is doing really well. He’s just like any other boy in every other way.’
Eight years ago Asma and her husband Zainal, 38, lost another son, Hussain, to Pompe, days after his first birthday.
At the time Myozyme was still being tested and no other treatments were available.
Asma, of St Vincent Road, Southsea, added: ‘When I was told that Qasim had tested positive for Pompe, I didn’t want to believe it. I was in denial for a while but we have had a lot of support from the family and now I believe we’ve been given another chance.’
There are only 120 recorded cases of Pompe in Britain and it affects an estimated one in 40,000 births.
In a bid to raise £60,000 to continue to support families with the condition, the Association for Glycogen Storage Disease has organised a 1,500 mile bike ride from Pompey to Pompeii.
The disease is known as Pompe after the Dutch paediatrician who first described it in 1932, Dr Johannes Pompe.
The 20 cyclists involved leave from Portsdown Hill at 9am tomorrow. See pompey2pompeii.org.uk