Change 4 Charlie

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One of our fraternal twin boys, Charlie, has for some time had serious developmental delays. 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 have a duplicated MECP2 gene, producing too much protein with grave consequences. Because 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.

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 downright 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 discovered MECP2 Duplication Syndrome in 2005 and has been at the forefront of researching it since then. In incredible news, her team reversed the symptoms of the disease in mice leading to 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. The next phase of research costs approximately $300,000 and about half has been raised. Researchers believe that clinical trials are the next step if this phase of the research is successful, meaning we are in a race against time to get this treatment approved in time to save Charlie’s life.

We would be so grateful if you would contribute at whatever level is comfortable to help fund this research and change the future for Charlie and others with MECP2 Duplication Syndrome.

Zach Neal & Katie Wester-Neal


What is MECP2 Duplication Syndrome?

Unlike Rett Syndrome, which is caused by mutations or deletions in the MECP2 gene, the symptoms that arise from the duplication syndrome are caused, as the name suggests, by having an area of the X chromosome (Xq28), which includes the MECP2 gene, erroneously duplicated. The section duplicated may vary from individual to individual and may also contribute to the severity of the disease.
The syndrome has been diagnosed mostly in boys. The majority inherits the duplication from their mothers who are typically asymptomatic due to favorable X chromosome inactivation (the moms have inactivated the X chromosome that harbors the duplication). Carrier mothers have a 50% chance of passing on the duplication to their children, meaning MECP2 Duplication Syndrome may be quite prevalent.

Learn more about MECP2 Duplication here.

What is the MECP2 Duplication Syndrome Fund at RSRT?

In an effort to immediately leverage RSRT's deep knowledge base and well established global scientific networks the MECP2 Duplication Syndrome Fund at RSRT was created in late 2010. The Fund puts the intellectual and scientific resources of RSRT immediately to work for the MECP2 Duplication/Triplication Syndrome community.
The Fund exclusively supports projects devoted to the study and means of treatment of MECP2 Duplication Syndrome. 100% of every dollar contributed is invested in research - not a single penny goes to overhead.
In 2012, a parent-driven effort was established to raise funds for the initial reversal experiments conducted at the Baylor College of Medicine. Families pledged to raise $401 to cover the cost of the experiments. The initiative was a success, and the 401 Project was born. All funds raised through the 401 Project initiative are directly deposited into the MECP2 Duplication Syndrome Fund at RSRT.

Learn more about RSRT here.

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