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 genetic disorder: MECP2 Duplication Syndrome. In short, the MECP2 gene creates a vital protein for brain function. Too much or too little of this protein has significant effects on the brain and body. People diagnosed with MECP2 Duplication Syndrome have a duplicated MECP2 gene, producing too much protein with grave consequences.
As this disease is often terminal in childhood, our mission now is simple: spread awareness about the disorder, support other families with affected children, and raise funds to develop a treatment for it.
Research on the Cutting Edge
A team of scientists at Baylor College of Medicine, led by Dr. Huda Zoghbi, discovered MECP2 Duplication Syndrome in 2005. She has been at the forefront of researching it since then. Incredibly, her team has been able to reverse the symptoms of the disease in mice. Dr. Zoghbi has been working toward the goal of doing the same in humans with a clear plan to reach clinical trials. 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.
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, including Vanderbilt University, are also exploring how to alter MECP2 levels.
Director: Joseph Mendoza DP: Nick Schwyter Editor: Ed Ng