Friday, December 17, 2010
Medical Reports: A Mother's Mission
One local mother was shocked when her son was born with Fragile X, a disorder he inherited from her. She had never even heard about it and wants to make sure no other families go through what she did. 7's Diana Diaz has more on this 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."
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