Medical Reports: A Mother's Mission

WSVN -- Vanessa always wanted to have a big family, so she and her husband were overjoyed at the birth of their first child.

Vanessa Chartouni-De La Serna: "When Calincito was first born, it was amazing. We had a perfect pregnancy, wonderful delivery, all the bliss of new parenthood."

But as time went on, they had a nagging feeling something wasn't right.

Vanessa Chartouni-De La Serna: "I kept going to the doctor saying, 'Something is wrong. This isn't right.' And they kept saying, 'You're being overanxious.'"

By one year, they knew it was serious.

Vanessa Chartouni-De La Serna: "It was the lack of speech. It was the feeding issues. It was the hyperactivity."

Vanessa was already pregnant with her second child, so she went for genetic testing.

Vanessa Chartouni-De La Serna: "Three weeks later, I got the results that I was a carrier of Fragile X, and I said, 'Fragile what?'"

Dr. Deborah Barbouth, UM Department of Genetics: "Fragile X is the most common inherited cause of mental retardation in boys."

Dr. Deborah Barbouth is a geneticist at the University of Miami.

She says children with Fragile X Syndrome have distinct features, such as a triangular face, large ears and flat feet. They also may not speak or make eye contact. But many doctors don't diagnose it early enough.

Dr. Deborah Barbouth: "The problem is there's a window where things could be still normal, so pediatricians usually don't call it until it's really obvious."

She says one in 200 women carry the gene for Fragile X and have a 50 percent chance of passing it on to their child. But like Vanessa, most don't know they're a carrier.

Dr. Deborah Barbouth: "I think it's important to be aware, to get educated, to get screened, in general, if you know there's a risk, and then make informed decisions."

Vanessa was relieved to find out her second son does not have Fragile X. As for Calin, he's already made a lot of progress.

Vanessa Chartouni-De La Serna: "He's learning a lot. He's a loving, happy, beautiful child with so much determination and so much persistence. That's all that we can ask for."

Diana Diaz: "Vanessa started a foundation to help educate families about Fragile X and show them where to get help."

FOR MORE INFORMATION:
http://www.familiesforfragilex.org/home.html