Doting mother Marcelle Abela has spoken of the ‘ticking time bomb’ of bringing up her giggling toddler Gabriel, who suffers from an extremely rare condition known as spastic cerebral palsy and leukodystrophy. Photo: Matthew Mirabelli

Propped on the sofa, little Gabriel lies hunched over his toy motorcycle, absorbed in play. He looks up as soon as his mother enters the room. Although he is unable to drop himself down to greet her, he immediately flashes an infectious smile which lights up the entire room.

“That smile keeps us going,” Marcelle Abela, 45, says as she lifts the giggling boy up and repositions him.

“Otherwise, the condition takes over.”

Gabriel, who will be two in February, was diagnosed with spastic cerebral palsy and leukodystrophy at the age of eight months. Cerebral palsy predominantly means muscle stiffness (spasticity). But leukodystrophy, the family was to find out, is a rare disorder which only affects approximately one in every 400,000 people. In Malta, there are two other people with the condition, according to Ms Abela.

It is a progressive disorder, meaning that the patient’s health will keep deteriorating until increasing frailty becomes too great to sustain life.

Ms Abela reports having had a normal pregnancy. She and her husband Mario are parents to two other children: 21-year-old Luke and 12-year-old Naomi.

I’m going to say the impossible but if God were to give us a normal child in return for taking Gabriel away, I would refuse

“Gabriel was coming along well. He was growing and getting chubbier by the day. But then, at the age of six-and-a-half months, he suddenly started regressing.”

Ms Abela noticed that her son began to lose weight. He was also unable to support his own weight and would choke when Ms Abela tried to switch to formula milk.

“That smile keeps us going”... But Gabriel’s condition cannot be cured for the time being . Photo: Matthew Mirabelli

The paediatrician first thought that Gabriel had delayed development. But Ms Abela decided to seek out a second opinion.

“It’s not about misdiagnosis but about getting varied opinions and advice and thus being able to choose what’s best.”

The doctors performed an MRI scan. Noting their body language as they came to deliver the news, Ms Abela instinctively knew something was very wrong.

“Our whole world came crashing down. It was a real nightmare. It’s the uncertainty of the condition which is so hard to come to terms with. It’s like someone saying you have a time bomb ticking away in your house but not telling you where it is or when it will explode.”

Ms Abela had never heard of leukodystrophy before Gabriel’s diagnosis. She recalls a telephone call with the person who ran the Australian Leukodystrophy Support Group, which Ms Abela joined.

Ms Abela immediately set about researching and learning as much as she could about the condition.

“I got down to business. I refuse to mope around. This is not the end of the road.”

She set up her own Facebook page, aptly called Sunshine for Gabriel.

“The page isn’t there to arouse pity but to celebrate Gabriel’s life. It seems he has already inspired so many people with his big smile and sunny disposition. It’s also there to raise awareness on leukodystrophy and help inform the public on the challenges Gabriel and other children like him encounter.”

She reveals her goal to set up a leukodystrophy association, through which she would be able to give support to other people with the condition and their family members, and not let them suffer the unknown.

Increased awareness, Ms Abela believes, may also inspire further research on the condition which may lead to finding a cure.

She praises the warm hearts of the Maltese, referring to several entities and benefactors who stepped in to help the family purchase the costly equipment needed to help facilitate Gabriel’s life, as well as helping them with their daily needs.

“We have a long road ahead of us. We still need to learn what type of leukodystrophy Gabriel has. I’m going to say the impossible but if God were to give us a normal child in return for taking Gabriel away, I would refuse. He is such a bright little boy. I love him endlessly.”

And indeed, Gabriel’s smile stands testament to his indomitable spirit and pays tribute to his parents’ boundless love, energy and optimism.

What is leukodystrophy?

Leukodystrophy is not a single condition, but refers to a group of conditions that mainly affect the white matter (‘leuko’) of the brain and the spinal cord. Leukodystrophies are usually progressive conditions, meaning they get worse over time. They cause the loss of normal brain functions.

Currently, leukodystrophies cannot be cured.

Life expectancy depends on the type of leukodystrophy. The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well.

Progressive loss may appear in body tone, movements, speech, ability to chew and swallow food, vision, hearing and behaviour.

There is often a slowdown in mental and physical development.

kdalli@timesofmalta.com