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.
Putting your child on steroids is a very difficult decision for a family to make, as the side effects can be almost as bad as the disease. These include weight gain, mood swings, osteoporosis and stunted growth – all of which are very difficult to manage for a young boy who just wants to be normal. Unfortunately, steroids are the only treatment available today for this condition, and all they do is slow down the inevitable decline in muscle strength.
When Marco was two, I brought him along to Luca’s neurologist to have him checked out. Two weeks later, it was confirmed that he too had Duchenne muscular dystrophy. As frightening as it was to hear the results of the test, I knew already that he had it.
As the mother of two boys with this devastating condition, it can be tough to find the strength to cope. Other mothers will know, however, that it’s our children who ultimately give us the will to fight – in fact, it’s my boys who keep me smiling.
We bring them both for annual check-ups at the muscle clinic in Tallaght hospital. While there, they see a cardiologist, an endocrinologist, and pulmonary and orthopaedic specialists who monitor their condition. This is all co-ordinated by their consultant neurologist who seems to do a great job within the confines of the public health system.
Day-to-day living can also be tough with two boys who have difficulty getting around. I have a double buggy which Luca can sometimes sit into when he gets too tired to walk. We have specially adapted tricycles for Luca and Marco to help them get out and about. Luca also goes swimming and he’s a great little artist. Marco hasn’t started school yet but he’s a happy, playful child.
Luca continues to have physiotherapy and daily steroid tablets but I can see his muscles weakening as time goes on. He understands that he is having treatment because part of his DNA is missing. He gets frustrated that he can’t do many of the things other boys take for granted, but we tell him lots of scientists are trying to find the piece that’s missing so that they can put it back. The reality is that there is no cure for this condition right now so we have to put our hope in research.
My husband attends international conferences to keep up with what’s happening; it seems that scientists are close to finding a treatment, and trials are under way for new gene therapies.
Funding is vital to keep this research going – especially because Duchenne muscular dystrophy is a rare disease which is not widely known. For this reason, it’s important to raise awareness. I won’t lose my boys without a hell of a fight.
Marco hasn’t started steroid tablets yet but we’ll have to decide about that soon. Luca is eight now and his lower body strength is starting to decline. He could be in a wheelchair in a few years’ time.
Just a few weeks ago, we got Diva, an assistant dog from the Irish Dogs for the Disabled. She has given Luca a lot of his confidence back as he had started to lose interest in getting out and about. He now walks all the way home from school with her. He calls her his stability dog.
Really, what I want most of all is for people to understand what life is like for us. Our lives were turned upside down by this disease and people undoubtedly treat our boys differently because of it, but we are getting on with our lives and hoping that the future might bring a treatment that will help. People stare at me sometimes when I park in the disabled parking spaces because they don’t see anything wrong.
I just have to dedicate my time to my boys because it is going to get harder as time goes on. The biggest thing for me is to give them as full and as normal a life as we can while we can.
In conversation with Sylvia Thompson
DUCHENNE MUSCULAR DYSTROPHY: THE FACTS
Duchenne muscular dystrophy is a rare form of muscular dystrophy which involves the progressive weakening of all the muscles of the body, including the heart and lungs, resulting in early death. It is a genetic condition – mainly inherited but occasionally appearing spontaneously – which affects about one in 3,500 males. It is caused by a defect in dystrophin, an important protein in muscle fibre. Most affected boys have difficulty walking and are unable to run and jump. As the condition progresses, they can’t walk as far or as fast as other boys and may need a wheelchair to get around. Physiotherapy and steroids can help maintain muscle strength for as long as possible, but there is no cure for Duchenne muscular dystrophy.