Boston Marathon for Adam

  • Description
  • FAQ
  • Comments
  • Supporters

Dear potential contributors,

I've been an avid runner for years and was able this past May to qualify for the Boston Marathon. It's been something I've worked hard for and feel very excited about. I'm racing in the honor of my son Adam and his condition Mecp2 Duplication Syndrome. This is a rare genetic disorder which has prevented Adam to speak, to run, and to play with other children. Adam further suffers from seizures, low tone and have a higher risk of infections. Many children with this condition doesn'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 manifest 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.

The MECP2 Duplication Syndrome may be quite prevalent. Preliminary studies suggest that 1% of cases of X-linked intellectual disability may be due to this syndrome. The core phenotypes in boys include infantile hypotonia, mild dysmorphic features, developmental delay, absent to minimal speech, recurrent infections, progressive spasticity especially of the lower limbs, ataxia, autistic features, and seizures. Females with MECP2 duplication without X chromosome inactivation skewing have been reported and present similarly to boys.

Learn more about it here.

Who is RSRT?

The Rett Syndrome Research Trust (RSRT) was launched in 2008 with a singular goal: to drive the development of treatments and cures for Rett Syndrome and related MECP2 disorders. As one of the few neurological disorders to demonstrate dramatic symptom reversal in the lab, Rett Syndrome has captured the attention of the world’s premiere university and pharmaceutical industry scientists. RSRT is operating at the nexus of this activity, leading and advancing the research agenda.

By funding the most Rett research worldwide, $35 million since 2008, we strive to put ourselves out of business as soon as possible.

Learn more about RSRT here.

Supporters (166)

  1. Narinder Tamber 
    10 months ago
    $100
  2. Taryn Vasquez 
    1 year ago
    $25
  3. Anonymous 
    1 year ago
    $100
  4. Tom Reusch 
    1 year ago
    $50
  5. Michael Dube 
    1 year ago
    $26.20
  6. Kelly Gilbert  
    1 year ago
    $100
  7. Anonymous 
    1 year ago
    $26
  8. Hanna Frank 
    1 year ago
    $50
  9. Sheila Arvikar 
    1 year ago
    $50
  10. Anonymous 
    1 year ago
    $75
  11. Amanda Enos 
    1 year ago
    $25
  12. Tara St.Hilaire 
    1 year ago
    $25
  13. Hyun Supul 
    1 year ago
    $50
  14. Marnie McKay-Perry 
    1 year ago
    $50
  15. Ana Llamas 
    1 year ago
    $50
  16. Brian Venisky 
    1 year ago
    $28
  17. Anonymous 
    1 year ago
    $50
  18. Beatrice Palma 
    1 year ago
    $20
  19. Laurance & Rena Ginsberg 
    1 year ago
    $50
  20. Cheryl Bruk 
    1 year ago
    $25
  21. Nick Savarese 
    1 year ago
    $10
  22. Maria Johansson 
    1 year ago
    $26
  23. Anonymous 
    1 year ago
    $20
  24. Judson Eley 
    1 year ago
    $50
  25. Andrea Duarte 
    1 year ago
    $30
  26. Sandy Leviine 
    1 year ago
    $50
  27. Sofia Boyer 
    1 year ago
    $25
  28. Aaron Allen 
    1 year ago
    $25
  29. Kerin McLoughlin 
    1 year ago
    $100
  30. Lisa Ritchie 
    1 year ago
    $30
  31. Nova and Zoey Johnson 
    1 year ago
    $50
  32. Helena Blomqvist 
    1 year ago
    $50
  33. Tim Guthrie 
    1 year ago
    $250
  34. Mark LaRosa 
    1 year ago
    $25
  35. Linda Haskell 
    1 year ago
    $100
  36. Lynn Smith 
    1 year ago
    $50
  37. Stephanie Owen 
    1 year ago
    $25
  38. Christine Marotto 
    1 year ago
    $15
  39. Mark Benson 
    1 year ago
    $100
  40. Lisa DeGloria 
    1 year ago
    $25
  41. Anonymous 
    1 year ago
    $25
  42. Amy Pekock 
    1 year ago
    $50
  43. Barbara Klanderman 
    1 year ago
    $75
  44. Kristina O\'Toole-Montgomery 
    1 year ago
    $10
  45. Erik Slivka 
    1 year ago
    $100
  46. Tara LoBianco 
    1 year ago
    $10
  47. Jewel Martin 
    1 year ago
    $52.20
  48. MaryJane Bernazzani 
    1 year ago
    $323
  49. Amie Fabiano 
    1 year ago
    $20
  50. Jennifer Parkhurst 
    1 year ago
    $20
  51. Kimberly Angelo 
    1 year ago
    $25
  52. Brent Osborn 
    1 year ago
    $200
  53. Mark Shipley 
    1 year ago
    $100
  54. Natalie Howard 
    1 year ago
    $30
  55. BethAnne Magnuson 
    1 year ago
    $25
  56. Debra Daley 
    1 year ago
    $25
  57. LUCIA GARDUNO 
    1 year ago
    $50
  58. Elizabeth von der Heydt 
    1 year ago
    $100
  59. Caitlin Roy 
    1 year ago
    $100
  60. Andover Pediatrics 
    1 year ago
    $250
  61. Suzan Seran 
    1 year ago
    $100
  62. Daniel Conroy 
    1 year ago
    $25
  63. Christine Caetano 
    1 year ago
    $25
  64. Andrew Wong 
    1 year ago
    $100
  65. Susan Howard 
    1 year ago
    $25
  66. Heather Fowler 
    1 year ago
    $200
  67. Danielle Dugan 
    1 year ago
    $20
  68. Daniel Bertrand 
    1 year ago
    $50
  69. Deborah Smith 
    1 year ago
    $25
  70. Mary E Dyan 
    1 year ago
    $25
  71. Andrea Larsen 
    1 year ago
    $25
  72. Mindy Bolton 
    1 year ago
    $25
  73. Nicole Nelson Chiesa 
    1 year ago
    $50
  74. Karen Purtschert 
    1 year ago
    $25
  75. Lauren Parker 
    1 year ago
    $75
  76. Frank DeBonis 
    1 year ago
    $50
  77. Carol Rowe 
    1 year ago
    $50
  78. Brian Venisky 
    1 year ago
    $50
  79. Deanna Pomfret 
    1 year ago
    $100
  80. Peter Paquette 
    1 year ago
    $100
  81. Susan Parke 
    1 year ago
    $25
  82. Hayley O\'Sullivan 
    1 year ago
    $50
  83. Michelle Welborn 
    1 year ago
    $10
  84. Susan Guthrie 
    1 year ago
    $50
  85. Yvette Ewan 
    1 year ago
    $25
  86. Sanjeev Gupte 
    1 year ago
    $50
  87. Charlotte Cantone 
    1 year ago
    $50
  88. Peter Paquette 
    1 year ago
    $50
  89. Alan Harding 
    1 year ago
    $200
  90. Christopher Hayes 
    1 year ago
    $100
  91. Kristen TenBroek 
    1 year ago
    $50
  92. Kirk Farrell 
    1 year ago
    $50
  93. Glenn & Kate Currie 
    1 year ago
    $25
  94. Irina Penttinen-Klein 
    1 year ago
    $300
  95. Christine Duffy 
    1 year ago
    $50
  96. Shannon Clough 
    1 year ago
    $35
  97. Marcia Anderson 
    1 year ago
    $1,000
  98. Ryan Gillespie 
    1 year ago
    $150
  99. chris sulzbach 
    1 year ago
    $100
  100. Charlotte Lenfest 
    1 year ago
    $25
  101. Donavon Young 
    1 year ago
    $10
  102. Mathew Weathers 
    1 year ago
    $100
  103. Barry Cullen Jr 
    1 year ago
    $100
  104. Erin Gallagher 
    1 year ago
    $30
  105. Anthony Marquette 
    1 year ago
    $20
  106. Christopher Amaral 
    1 year ago
    $100
  107. Shannon Donahue 
    1 year ago
    $25
  108. Kirk Farrell 
    1 year ago
    $50
  109. Frank Killilea 
    1 year ago
    $50
  110. Lori Fermano 
    1 year ago
    $50
  111. Sarah Glickman 
    1 year ago
    $50
  112. Aaron Preston 
    1 year ago
    $50
  113. Chris Coleman 
    1 year ago
    $100
  114. Jennifer Downs 
    1 year ago
    $50
  115. Anthony Sakakeeny 
    1 year ago
    $50
  116. Ruth Marrion 
    1 year ago
    $250
  117. Karen Robinson  
    1 year ago
    $50
  118. Tom/Lyn Licciardello  
    1 year ago
    $52.40
  119. Matthew LaBerge 
    1 year ago
    $25
  120. James Christopher 
    1 year ago
    $50
  121. Glen Hartford 
    1 year ago
    $50
  122. gabriel polonsky 
    1 year ago
    $20
  123. Valeria Mazza 
    1 year ago
    $50
  124. Michelle Krantz 
    1 year ago
    $25
  125. Brian MacDonald 
    1 year ago
    $50
  126. Katie Rogers 
    1 year ago
    $20
  127. Yino Wang 
    1 year ago
    $50
  128. Leslie Kehoe 
    1 year ago
    $100
  129. Genevieve Rajewski 
    1 year ago
    $26
  130. Andrea Imlach 
    1 year ago
    $25
  131. Heidi Mann 
    1 year ago
    $25
  132. Jenny Mcmillan  
    1 year ago
    $30
  133. Laurie Polese 
    1 year ago
    $50
  134. Elisa Goldberg 
    1 year ago
    $50
  135. Frida Frank 
    1 year ago
    $50
  136. Susan Kraemer 
    1 year ago
    $100
  137. Laura Fabiano 
    1 year ago
    $25
  138. Lisa Plume 
    1 year ago
    $50
  139. Ingrid Geygan 
    1 year ago
    $50
  140. Liz & Mike Kelley 
    1 year ago
    $50
  141. Anthony Daigle 
    1 year ago
    $50
  142. Stacie Kirkwood 
    1 year ago
    $25
  143. Regina Kean 
    1 year ago
    $50
  144. Beth Stresser 
    1 year ago
    $50
  145. Melanie Pappas 
    1 year ago
    $25
  146. John Gorman 
    1 year ago
    $25
  147. John Gorman 
    1 year ago
    $25
  148. Olga Lee 
    1 year ago
    $25
  149.  
    1 year ago
    $100
  150. John Lilly 
    1 year ago
    $100
  151. Eileen Sheets 
    1 year ago
    $25
  152. Kara Harvey 
    1 year ago
    $100
  153. Liz & Mike O\'Neil  
    1 year ago
    $20
  154. Megan Last 
    1 year ago
    $100
  155. Gregory Dunlap 
    1 year ago
    $100
  156. Laura Zimmermann Dávila 
    1 year ago
    $75
  157. MINDY Meyer  
    1 year ago
    $25
  158. Katherine Larson  
    1 year ago
    $30
  159. Sarah Marino 
    1 year ago
    $50
  160. Michelle Chapman  
    1 year ago
    $30
  161. Laurie LaVallee 
    1 year ago
    $50
  162. Elizabeth De Dominicis  
    1 year ago
    $100
  163. Christina Minicucci  
    1 year ago
    $52.40
  164. Rusty Bilodeau  
    1 year ago
    $100
  165. Elizabeth Murphy 
    1 year ago
    $50
  166. Kerri Wenson 
    1 year ago
    $100

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

Please upgrade today!