#Discovery #cerebral #palsy #brings #hope
Siena Zakaria is as cheerful and playful as any 18-month-old, but when she was six months old, her parents began to notice that she wasn’t achieving her goals.
“She wasn’t driving. She wasn’t able to support the weight of her head, much like a lack of concentration, said her father, Nash Zakaria. She wasn’t able to concentrate on our voice.”
Doctors determined she had a form of CP, a developmental disorder that affects her movements.
“Cerebral palsy is the most common cause of physical disability in children and, for a long time, the most common belief was that it was caused by birth asphyxia,” explains Dr. Maryam Oskoui, head of the neurology department at the Montreal Children’s Hospital and co-author of an innovative study that shows that the story is not as simple as that.
“We looked to see if there was a genetic cause that could explain part of their clinical presentation,” Oskoui said.
In many cases, including Siena’s, a genetic mutation was actually the root cause of the disorder.
“It’s always good to know,” his father said, “It gives you a kind of relief, I guess. Ultimately, there is nothing we can do at the moment, but we hope the future holds something positive.”
Oskoui says the discovery could pave the way for the development of new gene therapies, but it also has short-term benefits because no two cases of cerebral palsy are the same.
“Cerebral palsy is a spectrum disorder,” Oskoui said.
How the disorder is treated depends on the individual case and understanding the role played by genetics will help improve and personalize care.
“This is where precision medicine is needed and an individualized approach is important to determine what is actually affecting their daily lives,” Oskoui said.
Thanks to physical and occupational therapy, Siena has already gained a lot of strength.
“She is able to hold her head up a lot better than when she was younger, with a little help,” Mr Zakaria said. She can sit up, but always with a little help.”
Her parents say it’s comforting to know Siena’s doctors are at the forefront of understanding her condition, but it’s been a difficult journey so far.
“She’s here, she’s beautiful, she’s happy, she’s smiling,” said her mother, Shana Meo. It’s the added worry of not knowing: will she ever be able to walk? Will she ever be able to speak?
“No one wants to think their child is not perfect,” Mr. Zakaria said. It has been difficult, and it will continue to be difficult. But the family support system, the friends, everyone has been there for us. We are very grateful. And like I said, she’s perfect.”
