Dubai-based Argentinian expat Pablo D., who has requested that only his first name be used, loves to watch his eldest daughter play basketball. “She may not be the best player,” he laughs, but he loves cheering her on. “A normal problem for me is a big goal,” he says.
Ten-year-old Olivia suffers from two rare genetic conditions: Moebius syndrome, which is caused by the underdevelopment of nerves in the face and neck areas; and Klippel Feil syndrome, which results in the fusion of vertebrae.
That something was wrong was evident within the first few days of Olivia’s birth. Her first few hours were spent under the sharp gaze of doctors trying to help her breathe – her gasps were short and laboured. Once she had stabalised and handed over to her parents, they found themselves struggling once again, to help her eat. “She could not eat,” says Pablo. She was quickly losing weight and her cheeks were pale and sallow.
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“It was like a race for the baby … We need to add a pump in her stomach. For the first year and a half, she was living in a hospital because we weren’t able to bring her home,” recalls the 42-year-old.
The answers trickled in past age two. “One day, one doctor, I don’t know why, but she said, maybe it could be the nerves of the baby. We did a scan – and she could not see the nerves from the brain to the body. And then she started to try to discover more and more and more …. In the end, she said, maybe it could be the Moebius syndrome,” he says.
The rare non-progressive disease affects one for every 50,000 live births in the United States.
Weakness or complete paralysis of the facial muscles
Trouble swallowing or sucking
Difficulties with speech and frequent drooling
Inability to form facial expressions, including smiling, frowning, raising eyebrows, puckering lips or closing eyes
Cleft palate
Dental problems
Hand and foot problems including club foot and missing or fused fingers (syndactyly)
Hearing problems
High palate
Irritated and dry eyes
Motor delays
Poland’s syndrome (chest wall and upper limb anomalies)
Strabismus (crossed eyes)
Source: Johns Hopkins Medicine, US
Soon Olivia was on a steady stream of rehabilitation; massages, physiotherapy; but nothing seemed to help the baby. “It looked like the neck was locked for no reason and rehabilitation didn’t solve anything. Then the doctor started to check why the neck was in that situation. He discovered that in the neck, she had only half of the first vertebra. So her head now is supported by half the bone and then the second and third are fused,” he explains. This led to the diagnosis of Klippel Feil syndrome, which affects one in 42,000-50,000 live births in the US, as per the American website National Organization for Rare Disorders.
The diagnosis shook the family. “That first day is the hardest day in your life,” he says, adding that then you realise that you don’t have the time to indulge in self-pity. “You just need to get on with it. I didn’t have time to be sad. “One doctor told us, your baby will be kind of a plant for her whole life … when you are in this point, the worst-case scenario, everything that you can achieve in your life is a very big success,” he says.
For Pablo, the process of helping his child live a healthy life was challenging, but then, it made all other trials fall by the wayside. Nothing could compare anymore.
That’s not to say the health condition didn’t take its toll on the family. ”I think that my ex-wife, Olivia’s mum, took it [her diagnosis] in a different way ... I think she felt responsible ... seven years into this journey, we went our separate ways,” he explains.
Olivia, who has two siblings – aged five and one – has a good support system. “They are a unit, they are so together. They really love each other,” says her father.
“I really like being a father, spending time with my kids. And even for the case of Olivia – I felt more comfortable, confident about my role … it made me stronger. And I feel it has made me feel like I can look after my kids in any and all situations. I really want to have more kids and even for Olivia – she’s doing well now, but she will have problems through her life and I really want to give her another person in her life to support her. I really want to… because one day I won’t be here and I try to give her support and the opportunity to gain confidence,” he adds.
It’s those normal everyday problems that make a huge difference in building self-esteem – and the things he most looks forward to: a friendly row among friends, maybe over basketball.
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