Boston Marathon for Adam 2019

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Dear family and friends,

The last two years in a row I’ve been fortunate to compete in the Boston Marathon. I am happy to say that I also qualified for this year's race, something I feel very excited about! I am once again racing in honor of my son Adam and his condition Mecp2 Duplication Syndrome.

This is a rare genetic disorder which has prevented Adam from being able to speak, to run, and to play with other children. Adam further suffers from seizures, low tone and has a higher risk of infections. Many children with this condition don't make it to adulthood. Adam’s cognition is intact and essentially he is trapped within his own body. Imagine all of your parental fears manifested in a single diagnosis.

However, there is hope!

The lab of Dr. Huda Zoghbi at the Baylor College of Medicine announced in November 2015 that the syndrome has proven to be reversible. The pathway to treatment has been shown, but will come at high cost. With adequate funding, Adam could be cured within a matter of a few years, and for a parent this would be the greatest gift of all.

Please consider supporting me and in turn give Adam the chance at a real future and life.

Thank you for your love and support.

Sincerely,

Elin

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 (54)

  1. Anonymous 
    4 days ago
    $10
  2. Karen Robinson  
    5 days ago
    $50
  3. Eva and Tomas Frank 
    5 days ago
    $200
  4. Hanna Frank 
    1 week ago
    $25
  5. Eileen Sheets 
    1 week ago
    $100
  6. Megan Last 
    1 week ago
    $100
  7. Donald Guthrie 
    2 weeks ago
    $50
  8. Anna Simon 
    2 weeks ago
    $150
  9. Mindy Meyer 
    2 weeks ago
    $20
  10. John Lilly 
    2 weeks ago
    $50
  11. Nadine Johnson 
    3 weeks ago
    $50
  12. Zandra Faulkner 
    3 weeks ago
    $100
  13. Amy Pekock 
    3 weeks ago
    $50
  14. Charlotte Cantone 
    3 weeks ago
    $50
  15. Kenneth Levine 
    3 weeks ago
    $100
  16. Elisa Goldberg 
    3 weeks ago
    $25
  17. Bill Gardner 
    3 weeks ago
    $50
  18. Kim and Kristin Angelo 
    3 weeks ago
    $25
  19. Marie Sjodin  
    3 weeks ago
    $25
  20. GUSTAVO J CASTRO 
    4 weeks ago
    $50
  21. Olga Lee 
    4 weeks ago
    $50
  22. Susie Kraemer 
    4 weeks ago
    $500
  23. Susan Harding 
    4 weeks ago
    $200
  24. Barry Cullen 
    4 weeks ago
    $100
  25. Carrie Leary 
    4 weeks ago
    $50
  26. Ruth Marrion 
    1 month ago
    $500
  27. Pete Paquette 
    1 month ago
    $100
  28. Melanie MacLean 
    1 month ago
    $100
  29. Caryl Haley 
    1 month ago
    $100
  30. Frida Backe 
    1 month ago
    $100
  31. Huda Zoghbi 
    1 month ago
    $500
  32. Kelly Gilbert 
    1 month ago
    $50
  33. Charlotte Lenfest 
    1 month ago
    $50
  34. Cheryl Bruk 
    1 month ago
    $50
  35. Genevieve Rajewski 
    2 months ago
    $30
  36. Dan & Michele Bertrand 
    2 months ago
    $25
  37. Shannon Donahue 
    2 months ago
    $20
  38. Leonardo Covarrubias 
    2 months ago
    $100
  39. COLLEEN HARRINGTON 
    2 months ago
    $100
  40. Heather Belson 
    2 months ago
    $26.20
  41. Josefin Berg 
    2 months ago
    $100
  42. Melanie Pappas 
    2 months ago
    $25
  43. Maria Ruedlinger Walker 
    2 months ago
    $25
  44. Linda Wells 
    2 months ago
    $100
  45. Janice Parsons 
    2 months ago
    $100
  46. Denise Francese 
    2 months ago
    $25
  47. Linda Jelson 
    2 months ago
    $30
  48. Anonymous 
    2 months ago
    $50
  49. Leslie Kehoe 
    2 months ago
    $50
  50. Jennifer Hawkes  
    2 months ago
    $50
  51. Elise Carbonell  
    2 months ago
    $50
  52. Randy Heins 
    2 months ago
    $100
  53. Pam Fallon 
    2 months ago
    $50
  54. Marcia Anderson 
    1 month ago
    $1,000

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