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 (165)

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

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

Please upgrade today!