We have to put our hope in research

MY HEALTH EXPERIENCE:Both of my boys have a rare form of muscular dystrophy, relates CARMELA PEZZILLO

MY SON LUCA was born in December 2003, a fine healthy baby boy weighing about four and a half kilos. He started walking at about 21 months but we didn’t think this was a sign of something wrong. But, when he was about three years old, I began to notice that he couldn’t walk up the stairs one step after another, but instead brought both feet to each step as he went. He also needed to hold on to something when he got up from sitting on the floor. We brought him to a physiotherapist, who diagnosed flat feet and prescribed orthotics for his shoes. We continued with physiotherapy but we also decided to opt for a second opinion from a neurologist. At this stage, Luca was almost four and I was pregnant with Marco.

The neurologist said that he probably had dyspraxia (difficulty with co-ordinated movements) which made sense because he often fell and bumped into things. However, he said, he’d like to do blood tests to check for other conditions. The first results came back showing that Luca had very high levels of an enzyme called creatine kinase which might indicate muscular dystrophy. While waiting for the results of the second test, I decided to google muscular dystrophy – which was the worst thing I could have done.

I was devastated, but everything started to make sense. Luca needed a genetic test to confirm the diagnosis.

Twelve weeks later, we got the results of the second tests – which showed that Luca had a 70 per cent chance of having Duchenne muscular dystrophy – a rare form of muscular dystrophy which mainly affects boys.

Marco was born the previous April, and we were told that he had a one in four chance of also having the condition.

Then, I had to wait nine months to see if I had the genes which passed on the condition to Luca. The test came back negative, which meant that Marco’s chance of having the condition was reduced to 7 per cent. I felt such a relief finding this out but I began to see signs that worried me.

Meanwhile, Luca had started to get weekly physiotherapy to help his muscle strength. He also started on daily steroid tablets to give him energy to move about as much as possible. And we do physiotherapy with him ourselves every evening.

He’s in third class now in Bray School Project, near where we live. It’s very hard for him as he gets older because he knows he doesn’t have the physical strength of the other boys in his class, yet he’s strong minded and determined.