It’s hard to have hope when you don’t know your child’s life expectancy, but Gary Boyer constantly thinks of how far research has come and what it has achieved.
“We just hope that one day it will be like polio – completely gone.’’
Gary and Catherine’s nine-year-old son Edward has a rare disorder known as KIF1A Associated Neurological Disorder. It impacts a gene that affects the health of brain cells.
While the international research world is starting to understand this rare disorder, the Boyer family had never heard of it when their son was diagnosed.
They first suspected that something was wrong when Edward was two weeks old.
“We were at a wedding. It was a mild day and we had him in a blanket, but his feet were sticking out and we noticed they were blue. People commented on how unusual it was. We didn’t know what was going on. Now we look back, poor circulation is a common and ongoing issue.’’
As Edward grew up, he continued to miss his milestones, but his parents couldn’t get any answers about why. At 18 months, he still wasn’t crawling; at age three he still wasn’t walking, and his communication was impaired.
His parents took him to see a neurologist and then a geneticist. He was finally diagnosed at three-years-old.
“It was like trying to find a needle in a haystack to find out what was wrong. He was one of the first children diagnosed in Australia in 2013.’’
The family were told there had been one research paper on KIF1A, that was it. There were only 11 cases across the world.
Learn more about the KIF1A gene here.
Edward now walks with a walker but is mostly in a wheelchair. His brain has been so impacted that his capacity is close to a three-year-old.
“Genetic testing has made things much easier. There are now more than 300 people diagnosed around the world and researchers are working on a cure using gene therapy.
“Time may not be able to save our children, but we still want to make a difference in the long run, we’ve still got to do something.
“20 years ago, we didn’t know what this was. We just hope that in another 20 years maybe it will be a thing of the past.