“After seven years of waiting we had healthy twin baby boys. But we soon realised that there was something wrong,” says Brian Abela. “Doctors told us that there was something wrong with our boys but could not say what it was. Our children were only properly diagnosed when they were eight and a half.”
MECP2 duplication syndrome is a condition that occurs almost exclusively in males. It is characterized by moderate to severe intellectual ability, which includes weak muscle tone, feeding difficulty, poor or absent speech, seizures and muscle stiffness. Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. Some affected individuals experience the loss of previously acquired skills. Many individuals with the condition, which was first reported in the medical literature in 2005, suffer from recurrent respiratory tract infections. This can be a major cause of death, with almost half succumbing by age 25.
“Even before they were diagnosed, doctors told us that our boys would likely not live to reach the age of four. Today they’re 14. At least we have got them this far,” the father says.
To understand the condition better, the couple travelled with their children to the United States, where they met parents whose children have the same condition. “Many of the children we have met over the years have since passed away,” Brian says. He and his wife have contributed by sharing information and donating money for research and he hopes that a cure will be found one day, but he fears that this might not happen during his children’s lifetime.
Nazaline says the worst thing is the fear that one or both of her sons could suddenly come down with something, with tragic consequences. “Their immune system is weak as a result of the condition. This means that they can get sick quite suddenly and anything could be fatal unless treated immediately. I have to rush them to the hospital at the very first sign that something is wrong. Keeping them alive is the main thing. Every new day is a bonus.”
“Our kids are loaned to us,” Brian adds, “and we have to make sure that we take care of them as best we can for as long as we can.”
Apart from a weak immune system, the condition has other effects. Liam and Zakk are unable to speak, making it difficult for Nazaline and her husband to understand where they might be feeling pain. Their condition sometimes makes them forget how to do things. Until some time ago Liam could manage to say ‘mama’ and ‘papa’ but he has now forgotten how to call his father.
After school – the boys go to the Helen Keller Special School in Qrendi - Liam likes to play songs on his computer while his brother prefers to play with building blocks. “We have babies for life. That is something we had to accept,” says Brian. “This is their home and we try to make it as comfortable as possible for them.”
Nazaline explains that she has to close off the kitchen to keep her sons from wandering inside. She does this to keep them from hurting themselves.
The twins are wheelchair bound, which also makes it difficult for the family to enjoy a normal day out, such as at the park or the beach. “They also grow tired of something rather quickly and usually, when we go out, they want to go back home after around an hour,” Brian explains. Yet they are happy children, and this is what counts. “They are so pure and innocent,” their mother says.
For Mr and Mrs Abela every day is a struggle and a helper is always present when the boys are not at school. The Malta Community Chest Fund provides helpers on Saturday and Sunday mornings while helpers are provided by Agenzija Sapport on evenings from Monday to Friday. Nazaline does not work. She needs to be at home for her sons. “The boys need constant attention and I just could not cope on my own. These organisations have been a godsend for us.”
Asked what gives them the strength to face a new day, Nazaline says: “Our children keep us going. Their happiness, seeing them smile, is what gives us courage.”
Her husband agrees. “They have taught us a great deal. I have personally learnt that we take many of life’s simplest things for granted - walking up in the morning, walking, being healthy and going to work. We complain so much about the little things. And I have also learnt how to always look for the bright side.”
Brian and Nazaline live in a first floor maisonette in Zabbar. They have to physically carry their boys up and down the stairs multiple times each day. Needless to say, 14-year-old boys are not light to carry. “We have applied with the authorities to have a lift installed but our application seems to be stuck with the Housing Authority,” says Brian. The family was told that a stair lift is not ideal for their circumstances. The lift would cost the Abelas somewhere between €35,000 and €40,000. While they will not say it, help with the lift would be an awesome Christmas gift.
But they tell us that the best gift they could ask for is to be home with their children. “The boys do not really have a sense of what Christmas is but we do get together as a family for Christmas lunch. Our family and friends come over. The most important thing for us is to be with our sons. I don’t need a Turkey for Christmas - a loaf of bread is enough if my sons are here.”