One of our fraternal twin boys, Charlie, has had serious developmental delays for some time. 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, which showed that Charlie has an incredibly rare genetic disorder: MECP2 Duplication Syndrome. People diagnosed with this syndrome, which is often terminal in childhood, have a duplicated MECP2 gene and produce too much protein.
We were devastated when we received Charlie’s diagnosis. No one wants to see his or her child struggle or think about how a disease like this might progress, and MECP2 Duplication Syndrome is scary. Yet in this darkness we found hope. In late 2015, a leading scientific journal, Nature, published an article by scientists at Baylor College of Medicine led by Dr. Huda Zoghbi. Dr. Zoghbi identified MECP2 Duplication Syndrome in 2005 and has been at the forefront of researching it since then. Incredibly, her team reversed the symptoms of the disease in mice leading to significant improvements in both cognitive and physical functioning. Although reversing the symptoms in mice may seem a long way from reversing the symptoms in humans, Dr. Zoghbi and her team have been working toward this goal with a clear plan to reach clinical trials for a treatment in humans.
The research that could save Charlie’s life costs money. With so few people with this syndrome, fundraising can be a challenge. Clinical trials are close to becoming a reality, and we are in a race against time to get this treatment to market in time to save Charlie’s life.
We would be so grateful if you would contribute at whatever level is comfortable to change the future for Charlie and others with MECP2 Duplication Syndrome. Thank you!
Zach Neal & Katie Wester-Neal
Minimum amount is $
Maximum amount is $100000