Look Into My Eyes

  • Description
  • FAQ
  • Comments
  • Supporters

Dear Friend,

Thank you for being here!! My name is Beatrice Palma. I live in Italy and I have one brother and one nephew affected by MECP2 Duplication Syndrome, a rare and devastating neurological disorder. This year my brother turned 50 and he is probably the eldest man in the world with this disease. As a gift I thought I would realize my dream to write a little e-book about him and his disease.

The main goal, besides honoring my brother and raising awareness on the disease, is to raise funds for very important and promising research that could change the lives of all who struggle with this disease. The funds you contribute here will go to the Rett Syndrome Research Trust’s MECP2 Duplication Syndrome Fund. This supports numerous researchers, including an incredible scientist, Dr. Huda Zoghbi, at the Baylor College of Medicine in Houston Texas, USA. Doctor Zoghbi has demonstrated that the disease can be reversed in mice and is working now on finding a possible treatment that could be available much sooner that we could normally expect.

In my e-book you will find more detailed information about the disease and the research. My hope is also that the story of my brother will touch your heart. I want to give him the voice he has never had in this world. The final goal is to contribute to research in a significant way so that all the kids affected by this terrible disease will have a better future; they deserve it so much.

With a donation of $10 USD or higher, you will receive the e-book in your e-mail within 24/48 hours. The Rett Syndrome Research Trust will inform me every time someone makes a donation and I will send the e-book. Please help me to make this initiative significant for all the people in need. Together we can do something great and we can make good use of our potential as human beings by making this disease history.


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 (61)

  1. Anonymous 
    7 days ago
    $20
  2. Ivrea Rocchi 
    1 month ago
    $150
  3. Oliver Freeman  
    2 months ago
    $20
  4. Anonymous 
    2 months ago
    $20
  5. Annita Rodrigues 
    2 months ago
    $20
  6. Annita Rodrigues 
    2 months ago
    $20
  7. Dilene Rodrigues Teixeira 
    2 months ago
    $30
  8. Liliana Nochez  
    2 months ago
    $10
  9. Anonymous 
    2 months ago
    $20
  10. Karen Trzebiatowski  
    2 months ago
    $25
  11. Collene Wright 
    3 months ago
    $50
  12. Dyna Mendoza 
    3 months ago
    $15
  13. Jenna & Nate Olson 
    3 months ago
    $100
  14. Elena Roscini 
    3 months ago
    $20
  15. Sherry McNeill 
    3 months ago
    $25
  16. Anonymous 
    3 months ago
    $40
  17. Karan Burns 
    3 months ago
    $20
  18. Elena Menotti 
    3 months ago
    $60
  19. Anonymous 
    3 months ago
    $25
  20. amy spieth 
    3 months ago
    $20
  21. Helen Murray 
    3 months ago
    $20
  22. Pietro de Poda 
    3 months ago
    $100
  23. davide testa 
    3 months ago
    $10
  24. Nicoletta D\'Angeli 
    3 months ago
    $10
  25. Patricia Knight 
    3 months ago
    $25
  26. Lisa Kelly 
    3 months ago
    $10
  27. Cindy Bratkowski 
    3 months ago
    $50
  28. Patricia Platz 
    3 months ago
    $30
  29. Angela Miller 
    3 months ago
    $10
  30. Anna Zucca 
    3 months ago
    $30
  31. Margy Mattison 
    3 months ago
    $20
  32. Angie Sutton 
    3 months ago
    $18
  33. daleth scaramuzzi 
    3 months ago
    $50
  34. Laura Zucca 
    3 months ago
    $30
  35. Enrica Giampieretti 
    3 months ago
    $104.84
  36. Laura Rojas 
    3 months ago
    $20
  37. Stephen Beck 
    3 months ago
    $20
  38. Ilaria Casicci 
    3 months ago
    $10
  39. Patrizia Angelino 
    3 months ago
    $30
  40. Anonymous 
    3 months ago
    $25
  41. Anthony Bernazzani 
    3 months ago
    $20
  42. Samantha Platz 
    3 months ago
    $20
  43. Laura Brugnaro 
    3 months ago
    $10
  44. Rhonda Brand 
    3 months ago
    $100
  45. Chiara Pandolfi 
    3 months ago
    $10
  46. Anonymous 
    3 months ago
    $20
  47. Ashley Lombardi 
    3 months ago
    $20
  48. jenny howe 
    3 months ago
    $20
  49. Jason Knight 
    3 months ago
    $30
  50. Taryn Taylor  
    3 months ago
    $15
  51. Jason Moore 
    3 months ago
    $50
  52. Enrica Giampieretti 
    3 months ago
    $20
  53. Luca De Angelis 
    3 months ago
    $20
  54. Anonymous 
    3 months ago
    $30
  55. Anonymous 
    3 months ago
    $10
  56. Mauro Marchi 
    3 months ago
    $50
  57. Sara Salvatore  
    3 months ago
    $50
  58. Claudia Bertuccioli 
    3 months ago
    $10
  59. Amy Morrison Baker 
    3 months ago
    $15
  60. Alessandro Centrone 
    3 months ago
    $25
  61. Patrizia Giordano 
    3 months ago
    $10

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

Please upgrade today!