Change 4 Charlie

  • Description
  • FAQ
  • Comments
  • Supporters

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.

Supporters (102)

  1. Andi OBryan 
    3 days ago
    $100
  2. Christian Farrell 
    4 days ago
    $25
  3. Jeanne Juneau 
    5 days ago
    $100
  4. Kara Johnson 
    1 week ago
    $50
  5. Amanda Gallagher 
    2 weeks ago
    $50
  6. Anonymous 
    2 weeks ago
    $100
  7. Melissa Hugghins 
    3 weeks ago
    $150
  8. Emily and Felipe Lobelo 
    3 weeks ago
    $50
  9. Peter Harrell 
    3 weeks ago
    $250
  10. Carol & George Williams 
    3 weeks ago
    $500
  11. Margaret and Mason Poe 
    3 weeks ago
    $100
  12. Jennifer Groves 
    4 weeks ago
    $10
  13. Rebecca Yan 
    4 weeks ago
    $25
  14. Chris and Rachel Higgins 
    4 weeks ago
    $1,000
  15. PENYA SANDOR 
    4 weeks ago
    $500
  16. Mary Clare Wright Silva 
    1 month ago
    $50
  17. Anonymous 
    1 month ago
    $25
  18. Elizabeth Thompson 
    1 month ago
    $50
  19. Caroline Haddow 
    1 month ago
    $100
  20. Lauren Sharples 
    1 month ago
    $50
  21. Anonymous 
    1 month ago
    $500
  22. Andrea and Aaron Block 
    1 month ago
    $500
  23. Jean Napolitano 
    1 month ago
    $100
  24. Bonnie Evans 
    1 month ago
    $50
  25. Hannah Martin 
    1 month ago
    $100
  26. Dan Thorne 
    1 month ago
    $500
  27. Nadine Bean 
    1 month ago
    $25
  28. Romeka Miller 
    1 month ago
    $50
  29. Emily Hymowitz 
    1 month ago
    $1,000
  30. Alisa Alloy 
    1 month ago
    $100
  31. Emmanuel Tzavlakis 
    1 month ago
    $50
  32. Marion Hanahan 
    1 month ago
    $100
  33. Dennis Covington 
    1 month ago
    $500
  34. Anonymous 
    1 month ago
    $10
  35. Marci Juneau 
    1 month ago
    $500
  36. connie griggs 
    1 month ago
    $100
  37. Katerina Sutton 
    1 month ago
    $250
  38. Laura Phillips 
    1 month ago
    $100
  39. Kelley Barnaby 
    1 month ago
    $50
  40. karen hamrick 
    1 month ago
    $25
  41. Joy Rousso 
    1 month ago
    $250
  42. Allison Richardson  
    1 month ago
    $150
  43. Nicole Jordan 
    1 month ago
    $250
  44. Jessica Killeen 
    2 months ago
    $50
  45. Tiffany Stout 
    2 months ago
    $100
  46. Anonymous 
    2 months ago
    $50
  47. Leslie Bicksler 
    2 months ago
    $250
  48. Kim Harvey 
    2 months ago
    $50
  49. Anonymous 
    2 months ago
    $500
  50. Gwendolyn Godfrey 
    2 months ago
    $100
  51. LuAnn Rockett 
    2 months ago
    $200
  52. virginia amato 
    2 months ago
    $100
  53. Madonna Hayden 
    2 months ago
    $100
  54. Allison Bisel 
    2 months ago
    $50
  55. susan radulovacki 
    2 months ago
    $250
  56. Bruce Sarkisian 
    2 months ago
    $100
  57. Scott Evans 
    2 months ago
    $1,500
  58. lynda carver 
    2 months ago
    $100
  59. Wayne Barbara Chelikowsky 
    2 months ago
    $100
  60. Wallace Marsh 
    2 months ago
    $100
  61. Jason Frank 
    2 months ago
    $100
  62. Ashley Culberson 
    2 months ago
    $500
  63. Jennifer Holbach 
    2 months ago
    $250
  64. Anonymous 
    2 months ago
    $20
  65. KARA STRINGER 
    2 months ago
    $100
  66. Neal Kennard 
    2 months ago
    $100
  67. Ashley Autry 
    2 months ago
    $250
  68. Julie Herron Carson 
    2 months ago
    $50
  69. Michael Barry 
    2 months ago
    $250
  70. Anonymous 
    2 months ago
    $50
  71. Andrew Tuck 
    2 months ago
    $250
  72. Tressa Copenhaver 
    2 months ago
    $100
  73. Carrie Philpott 
    2 months ago
    $100
  74. Lou Stanfield 
    2 months ago
    $50
  75. Bridget James 
    2 months ago
    $250
  76. Alexis & Shelby Guilbert 
    2 months ago
    $100
  77. Michelle Wirth 
    2 months ago
    $500
  78. Simone Dupre 
    2 months ago
    $50
  79. Anonymous 
    2 months ago
    $10
  80. Elyse Caplan 
    2 months ago
    $100
  81. Lisa McNamara 
    2 months ago
    $100
  82. John Clabby 
    2 months ago
    $1,000
  83. Jay Lohse 
    2 months ago
    $2,000
  84. Ross Kirschner 
    2 months ago
    $500
  85. Mary Margaret Heaton 
    2 months ago
    $100
  86. Kerri Loudis 
    2 months ago
    $200
  87. Stephanie McCaa 
    2 months ago
    $200
  88. Timothy Chen 
    2 months ago
    $100
  89. Mary Kelly 
    2 months ago
    $100
  90. Peter Smagorinsky 
    2 months ago
    $100
  91. Susan Hill 
    2 months ago
    $25
  92. Brenda Pruitt 
    2 months ago
    $50
  93. David Foster 
    2 months ago
    $100
  94. Anonymous 
    2 months ago
    $75
  95. Anonymous 
    2 months ago
    $35
  96. Everett Bradley 
    2 months ago
    $500
  97. albert mckinney 
    2 months ago
    $250
  98. Barbara J Wester 
    2 months ago
    $500
  99. Douglas Howard 
    2 months ago
    $250
  100. Samara Caplan 
    2 months ago
    $360
  101. Edith Martinez 
    2 months ago
    $50
  102. linda maumus 
    2 months ago
    $25

This is a unique website which will require a more modern browser to work!

Please upgrade today!