Reverse MECP2 Duplication Syndrome for Brantley

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  • FAQ
  • Comments
  • Supporters

Brantley was born on June 10, 2014. He is 3.5 years old and was diagnosed with MECP2 Duplication Syndrome at just 8 weeks old. He loves Mickey Mouse and Shrek and will instantly light up when he sees or hears either. His big sister Gentry is his best friend and he is always laid back and rolls with the punches! He has been hospital-free for almost 2 years but still gets monthly infections.

We are anxiously waiting for a treatment for MECP2 Duplication Syndrome! Remarkably, it has been reversed in mouse models, which gives us much hope that we are on the brink of clinical trials. We are asking all our friends and family to join us in our efforts to raise more money for this research for Brantley and fellow MECP2 families in hopes to help expedite the process! We are determined and won’t stop fighting until Brantley gets a treatment!

Thank you for your support.


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.

Supporters (18)

  1. David Newby 
    3 months ago
    $1,413
  2. Brandi Baumann 
    5 months ago
    $20
  3. Aspyn Ward 
    5 months ago
    $30
  4. Alan & Karen Trzebiatowski 
    5 months ago
    $100
  5. Anonymous 
    6 months ago
    $10
  6. Jenna Patterson 
    8 months ago
    $100
  7. Karen Trzebiatowski 
    8 months ago
    $50
  8. Kaitlin Risley  
    8 months ago
    $20
  9. Amanda Wilson 
    8 months ago
    $100
  10. Carrie Hall 
    8 months ago
    $100
  11. Carrie Hall 
    8 months ago
    $100
  12. Carrie Hall 
    8 months ago
    $100
  13. Jenny Mcmillan 
    8 months ago
    $500
  14. Kathleen Rusinski 
    8 months ago
    $50
  15. Rhonda Brand 
    8 months ago
    $750
  16. Renee and Michael Zickert 
    8 months ago
    $250
  17. Chase Moore 
    8 months ago
    $20
  18. Jenny Mcmillan 
    8 months ago
    $30

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