One of our fraternal twin boys, Charlie, has had serious developmental delays for some time, 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 testing showed that Charlie has an incredibly 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 for young children, experts estimate that only a few hundred to a few thousand people worldwide have ever been diagnosed with MECP2 Duplication Syndrome even though it probably affects about 1-2% of children with X-linked chromosomal differences. Our mission now is simple: to spread awareness about the disorder, support other families with affected children, and raise funds to cure 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. In incredible news, her team recently reversed 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 very soon. Like many MECP2 Duplication Syndrome families, we are raising funds that go directly to research. These funds help this breakthrough get to trial and fund other possible treatments for this deadly disorder, offering hope for Charlie and other children who suffer from MECP2 Duplication Syndrome.
Dr. Zoghbi and Our Team
Watch the video to learn more about Dr. Zoghbi, her team, and the revolutionary research they are conducting. Then, join OUR team by helping us support the research that could save Charlie's life as it moves toward human clinical trials.
Director: Joseph Mendoza DP: Nick Schwyter Editor: Ed Ng