Like countless other parents, Marylene Debono delights in witnessing her daughter’s developmental milestones. The five-year-old recently managed to climb the front step to their home all by herself, her mother says proudly.
For little Ella, who suffers from central core disease, movement does not come easy. The condition causes muscle weakness and the little girl’s legs often give way beneath her, causing her to frequently tumble to the ground.
“I’m seeing her improve a bit though,” the 27-year-old says.
“She’s no longer falling down as often as she used to. The physiotherapist is also teaching her to climb up the stairs in a sideways manner, which makes it less difficult for her.
“Also, the warmer weather makes things easier for us.”
Like her daughter, Ms Debono also suffers from the rare neuromuscular disease but the condition is much more severe in her case. She is a wheelchair user, having been found at birth to have bilateral dislocation of the hips.
Every treatment to realign them failed due to the rare condition, which is similar to muscular dystrophy and causes weakness particularly, in her case, in the muscles around the hips.
In time she developed lordosis and scoliosis, which are spine curvature disorders.
“The doctors are also worried about the curvature in Ella’s spine. I monitor it frequently and send regular photographs of her back to her specialist at Great Ormond Street Hospital. But she’s an energetic and lively child. She doesn’t give up. That’s how I raised her. Whining about it won’t get you anywhere. We carry on with life,” she says matter-of-factly.
Whining about it won’t get you anywhere. We carry on with life
Ms Debono, who is a single mother, lives at her grandmother’s house together with her daughter and parents.
Their lives are hectic – Ms Debono’s mother, Angele, spends her time ferrying her daughter and granddaughter to numerous hospital appointments and physiotherapy sessions as well as, in Ella’s case, occupational therapy and speech therapy.
Mrs Debono also performs three-hour physiotherapy sessions daily on her daughter, as well as massages using specialised oil to ease the pain. She frequently takes her granddaughter to Inspire, where the little girl makes use of the multisensory room, horse riding and the swimming pool for hydrotherapy. Twice a year, the family travels to the UK for visits at the Charing Cross Hospital and at Great Ormond Street Hospital.
Despite some assistance by the Malta Community Chest Fund, the family finds it hard to cover the expenses for the specialised treatment and travels abroad.
Wanting to give her daughter the best treatment available, Mrs Debono took the decision to obtain permission from the Commissioner for Voluntary Organisations and to extend a hopeful, pleading hand to neighbours and businesses.
“I’ve posted several letters, signed by our doctor and priest, asking for assistance,” the 45-year-old says.
“People are so generous – we wouldn’t be where we are if it weren’t for their generosity. I’ve also gone up and knocked on several people’s doors. Occasionally, people slam the door shut in my face, telling me they’re fed up of donating to different causes. I don’t blame them. But then when they hear our story, they generally return to help us.”
Occasionally though, the family found itself on the receiving end of people’s barbed comments.
“Recently on Facebook, a woman thought that the letter my mother sent out was a fake one,” Ms Debono said. “And once a woman told me that I was extremely selfish to have had a child because I passed on my condition to her. That really hurt. My daughter is coping fine – I care for her, wash her and dress her. I’m hoping to get my driving license to become even more independent.”
Last January, Ms Debono was given the happy news that she was in a good enough condition to be fitted with leg callipers (advanced bracing) which would allow her to make some baby steps.
The specially-made lightweight callipers will cost £10,000 (€14,000).
“I’m so thrilled – I would love to be standing up for my daughter’s Holy Communion. I used to wear callipers before my daughter was born but then I regressed.”
Donations to Ms Debono and her family can be made to HSBC account number 055-166317001.