CHARLIE
One of our fraternal twin boys, Charlie, had serious developmental delays during infancy, but we hoped these were related to his premature birth and other common factors. After an exhaustive search for answers, we were directed to genetic testing. The genetic results showed that Charlie has a rare disorder: MECP2 Duplication Syndrome. In short, the MECP2 gene creates a vital protein for brain and cell function but must be present in the body in just the right amount. Too much of the protein has significant negative effects across multiple body systems. People diagnosed with MECP2 Duplication Syndrome have a duplicated MECP2 gene, which produces grave health consequences.
As this disease is often terminal in childhood, there is no time to delay. Our mission is simple: spread awareness about the disorder, support our community of families with affected children, and raise funds to develop life-changing research. We hope you will join us!
Research on the Cutting Edge
A team of scientists at Baylor College of Medicine, led by Dr. Huda Zoghbi, identified the genetic basis of MECP2 Duplication Syndrome in 2005. Since then, she has been at the forefront of research, and her team was able to reverse the symptoms of the disease in mice. We have hope that clinical trials may soon be able to make a positive effect in humans. We have partnered with the MECP2 Duplication Foundation to increase awareness, support families, and raise money for research that can offer hope for Charlie and all those who are diagnosed with MECP2 Duplication Syndrome.
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Dr. Zoghbi and The Team
Watch the video to learn more about Dr. Zoghbi, her team, and the revolutionary research they have conducted. Researchers from multiple institutions around the world have joined the fight to change the course of MECP2 Duplication Syndrome.
Director: Joseph Mendoza DP: Nick Schwyter Editor: Ed Ng