Kingfisher Baby Battling Rare Disease That Turns Muscle to Bone
August 17, 2016
by MARIANNE RAFFERTY. Thanks to Newschannel4 for this piece.
When Ryder was born, his mom said they knew something was wrong.
“Ryder was born, and his fingers and toes weren’t fully developed,” Kirkman said.
After seeing many doctors with no answers, the Kingfisher family was sent to OU Children’s Hospital. After several months of testing, they learned Ryder had a rare genetic disease.
“He told us it was fibrodysplasia ossificans progressiva,” Kirkman said. FOP, also known as ‘Stone Man Syndrome’, causes muscle to turn to bone. The condition can get out of control and cause painful body deformation.
The disease can be difficult to diagnose because it’s so rare, affecting one in two million people worldwide.
As in Ryder’s case, symptoms can be tough to recognize.
“Toe issues, not growing well, some delay in development and just wasn’t doing what a child is supposed to do at that age,” said Dr. Sownya Krishnan, Ryder’s doctor at OU Children’s Hospital.
A genetics doctor on staff at OU Children’s eventually diagnosed Ryder with the debilitating disease. For now, a team of specialists can only manage and try to prevent symptoms. Excess bone growth can be triggered by something as simple as a fall.
“As soon as a child suffers from injury, then there are certain drugs that we can use to limit the formation of bone,” Krishnan said.
There is no cure for FOP, but specialists at OU CHildren’s are working with experts in the field of treatment and research and making progress.
“The life expectancy is pretty good, and there have been individuals living up to the age of 40,” Krishnan said.
Kirkman said they try to be careful and take it day by day, which is tough with an active toddler.
“It’s hard to try to think about the future and decide what’s going to happen because you never know,” Kirkman said, fighting back tears.
So far, Ryder has had no flare ups. The toddler gets weekly therapy to help with speech and movement. In the midst of it all, some happy news for the family. Ryder is going to be a big brother soon.
His mom is expecting a baby girl in a few months.
For now, Kirkman said she treasures every moment she can get with her son.
“Every day, you know, do something fun with Ryder or spend time with him and just see one smile every day,” Kirkman said emotionally. “That’s good enough for me.”
Researchers have pinpointed a particular gene that may be responsible for causing FOP and are working on ways to block that gene and hopefully prevent the disease. Research has shown promise in animal testing, but no human trial have begun yet. Ryder’s family plans to take him to a doctor in Pennsylvania who specializes in FOP cases and has already been working closely with his doctors in Oklahoma.
To learn more about FOP, click here.
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