S. Fla. Mother Coordinates Walk To Raise Awareness Of Fragile X Syndrome
MIAMI (CBS4) – When Calincito De La Serna was born six years ago, like all children, he was an adorable little baby.
But over that first year, his Mother Vanessa Chartouni-De La Serna noticed some things didn’t seem right.
“He wasn’t talking, wasn’t pointing, wasn’t playing peek-a-boo, food issues, difficult to calm, some physical tone issues,” she said.
Vanessa took Calincito to doctors, only to be told she was just being over anxious. When she was pregnant with her second child, a blood test revealed she was a carrier for the Fragile X gene. One out of 180 women are carriers.
“When I first heard I was carrier of Fragile X, I was like ‘Fragile what?’” Vanessa said.
Vanessa has since learned a lot about the syndrome because Calincito is 6-years old now.
Fragile X is a genetic condition that results in various levels of cognitive impairment, from mild to severe. It’s also the most common genetic cause of autism. It affects more boys than girls and there’s no cure. In Calincito’s case, he doesn’t have autism.
“Having a child with Fragile X is challenging,” Vanessa says. “Every single day is challenging. Doing simple things as a family is challenging.”
Vanessa says while Calincito is a happy, loving and outgoing little boy, his behavior issues and sensory dysfunction can be tough to deal with. She and her husband have since had three more children.
For the last two they used IVF so they could do pre-genetic testing on the embryo to make sure it doesn’t have Fragile X.
Now Vanessa is one of the founders of Families for Fragile X. Her goal is to make sure that other families don’t have to go through it alone.
Saturday morning there’s a walk and run to raise money for Families for Fragile X. It’s on the Virginia Key bike trails in Key Biscayne.
If you would like more information go to http://www.floridafragilexfamilies.org/home.html