About The Boys

Oliver and Samuel were diagnosed with Hunter Syndrome when they were just two and a half years and 19 weeks old respectively.

This came as a devastating blow as Oliver, who had suffered a brain haemorrhage at birth, appeared to be doing really well despite the severity of the bleed. At birth, Samuel had been fine and news that these two lovely little boys might never get to grow up was too much to bear.

( For details on Hunter's go to www.mpssociety,co.uk )

After a follow up visit to Oliver's paediatrician for a development check, some simple tests were done, along with a heart scan as during a recent illness, a local GP had found Oliver had a heart murmur. On the 23rd April 2002 an Echocardiogram showed that Oliver's Mitral Valve had thickened and two days later Mucopolysaccharidosis was diagnosed. A later blood test narrowed the condition down to Hunter Syndrome and we were sent up to Great Ormond Street to find out the full facts.

As we listened, at my request, to everything that could happen to the boys, our hearts really began to break-the list was endless. The enzyme Oliver and Samuel were missing meant they were storing up molecules their bodies couldn't break down which in turn would thicken their skin and hair, change their facial features, damage major organs and make them really ill. Most boys with Hunter's had central nervous system involvement, which meant the brain would store up the waste moleules up to the point where it would gradually start shutting down. The few who got out of nappies, learned to eat with a knife and fork or drink from a cup, would gradually start regressing by the age of 4 or 5, as the damage to the brain became such that it could no longer maintain what it had learned. The consultant confirmed that the 'severe' form of Hunter's included the central nervous involvement, but 'it's usually the physical side which gets them in the end.'

We waited for a 'but'...It never came.

It was round about this point that Bob walked out, no longer able to sit and listen to the possibilites. We learned that Enzyme Replacement Therapy (ERT) trials were in the early stages in the USA but it would be some time before treatment would be available. Usually boys diagnosed before 6yrs were severely affected and ERT could not help the brain.

We had to sit and wait and watch our two little boys slowly become more and more unwell.

The next five years saw operations to improve Oliver's airways and hearing, a carpal tunnel release to help his hands and a hydrocele operation to stop fluid collecting in his scrotum.

Samuel had two sets of grommets inserted as the first lot fell out and a hydrocele op too