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. In MECP2 Duplication Syndrome, a duplicated MECP2 gene produces too much protein with significant negative effects across multiple body systems.
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
In 2005, scientists identified the genetic basis of MECP2 Duplication Syndrome. Since then, Dr. Huda Zoghbi and her team at Baylor College of Medicine, were able to reverse the symptoms of the MECP2 Duplication Syndrome in mice. In just 20 years, we now have hope that clinical trials can soon make a positive difference in the disease 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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Making Progress with Research
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