CALGARY -- Marfan syndrome is a life-threatening genetic condition and an early, accurate diagnosis is essential, not only for people with it but also for those with related conditions.
Knowing the signs of these conditions can save lives. Advocates say awareness is important. About 1-in-5,000 people have it, including men and women of all races and ethnic groups.
Now nine years old, Jaiden Stone was diagnosed with Marfan syndrome in 2015. His mom, Janet, says he would trip over things, so they got him glasses.
But on his one-year checkup, there were problems with his lenses.
“And we got referred to an ophthalmologist, and another,” said Janet.
“They started throwing out this term Marfan syndrome and we’re like, what’s that all about, never heard of it.”
The Marfan Foundation is based out of the U.S. but has members in several countries around the world.
It breaks down the disorder like this, “Connective tissue is made up of proteins and the protein that plays a role in Marfan syndrome is called fibrillin-1. The syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta.”
That increase causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related conditions.
Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes.
Jaiden is thin and as tall as his 11-year-old brother Avery and he also wears glasses. Those are the only visual markers Jaiden displays and most of his classmates didn’t even know he had the rare syndrome.
“Last year we did this presentation about Marfan,” said Jaiden. “So then every single person in my class knew what Marfan was.”
Jaiden has some physical limitations and while he loves gym class, he’s not allowed to do any kind of push-ups, sit-ups or weight-lifting.
The only medication he’s on is for his blood pressure.
Maya Brown-Zimmerman lives in Cleveland, Ohio and is an advisor for the Marfan Foundation. Both she and her son have the disorder and Brown-Zimmerman says awareness is lifesaving.
“The people that hear about Marfan syndrome this month, hopefully if they have symptoms or they notice the signs in a loved one that they will be able to know what they need to do,” she said.
“So we talk about, know the signs, know the outward features and then where you go from there so that you can get checked out and get a diagnosis.”
Janet says someone doesn't know about the syndrome wouldn't know to get checked.
“When it effects your heart, you could suddenly have a heart episode and you land in the hospital or worse," she said.
Boe Stone owns Revolution Hot Tubs and is running a fundraiser throughout February for the Marfan Foundation.
“Last year we started it and had excellent support,” he said. “So we’re donating $100 for each Wellis hot tub we sell this month to the Marfan Foundation to help create awareness.”
In 2020 Stone raised $1,200 for the foundation.
Learn more about Marfan syndrome online.