Reporting Cynthia Demos
MIAMI (CBS4) – Two South Florida mothers are on a mission to educate the public about a syndrome that is often confused with autism.
Little is known about Fragile X syndrome, but Michelle Kaplan, mother to Matthew, 7, and 5 year old Calentcito’s mom Vanessa Chartouni de la Serna have teamed up to make a difference.
Their sons are both at a special school for kids with Fragile X syndrome.
“It absolutely affect every single day,” said Kaplan.
Fragile X is a neuro-developmental disorder that affects cognitive skills, a child’s behavior, speech, and senses. It’s the only known genetic cause of autism. Thirty percent of kids with Fragile X have autism.
Calencito was diagnosed at 15 months, and Matthew at 13 months. The big signs for them were developmental and speech delay.
“At first I was devastated, scarred, confused and anxious to learn more,” Vanessa Chartouni de la Serna said.
“Everywhere I turned there were no answers just more and more questions,” Kaplan said.
Women who carry the disorder can be tested before or while they’re pregnant. Symptoms include early menopause and problems with fertility.
If you are pregnant you often have to make a special request for the testing.
The goal of Chartouni de la Serna and Kaplan is to raise awareness for more research and a better life for their children. Four years ago, they started an organization for families affected by Fragile X syndrome. There are now 60 families in the group.
“One day I won’t be here and need to know he can be cared for,” Kaplan said.
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