Boston Marathon for Adam 2018

  • Description
  • FAQ
  • Comments
  • Supporters

Dear family and friends,

Last spring I was fortunate to compete in The Boston Marathon for the first time. 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 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 (161)

  1. Mark Benson 
    6 months ago
    $100
  2. Christen Walsh 
    1 year ago
    $50
  3. Jennifer Hawkes  
    1 year ago
    $25
  4. Dahlia Khankan  
    1 year ago
    $25
  5. Mary Moossa Jurek 
    1 year ago
    $40
  6. LIsa Perks 
    1 year ago
    $26
  7. Mary Dyan 
    1 year ago
    $20
  8. Lisa Kwiatkowski 
    1 year ago
    $50
  9. Kerrie Adams 
    1 year ago
    $50
  10. Deanna Pomfret 
    1 year ago
    $200
  11. Sheila Arvikar 
    1 year ago
    $25
  12. Elizabeth von der Heydt 
    1 year ago
    $150
  13. Ryan Gillespie  
    1 year ago
    $100
  14. Todd Farnsworth 
    1 year ago
    $30
  15. Erik Slivka 
    1 year ago
    $50
  16. Karen Purtschert 
    1 year ago
    $25
  17. Meredith Gunning 
    1 year ago
    $25
  18. Debra Daley 
    1 year ago
    $50
  19. Tobie Garis  
    1 year ago
    $25
  20. Kristen TenBroek 
    1 year ago
    $25
  21. Christine Duffy 
    1 year ago
    $50
  22. Tara Baldwin 
    1 year ago
    $25
  23. Barbara Klanderman 
    1 year ago
    $100
  24. Jenny Bonham-Carter 
    1 year ago
    $400
  25. Sheryl Rudis 
    1 year ago
    $50
  26. Sharon Randall 
    1 year ago
    $25
  27. Rose Sullivan 
    1 year ago
    $20
  28. The Pekocks 
    1 year ago
    $50
  29. Peter Guza 
    1 year ago
    $50
  30. Ruth Marrion 
    1 year ago
    $250
  31. Theresa Trant 
    1 year ago
    $20
  32. sofia boyer 
    1 year ago
    $20
  33. Matt O\'Malley 
    1 year ago
    $26.20
  34. Antonietta DeVito  
    1 year ago
    $100
  35. Gretchen Papineau  
    1 year ago
    $100
  36. Michael Miller's Birthday  
    1 year ago
    $380
  37. Lauren Parker 
    1 year ago
    $75
  38. Anonymous 
    1 year ago
    $50
  39. Kaitlin&Derek Sorensen 
    1 year ago
    $25
  40. Susan Kraemer 
    1 year ago
    $200
  41. Kirsten Lovett 
    1 year ago
    $100
  42. Lisa Rasanen 
    1 year ago
    $50
  43. Julee Gibson  
    1 year ago
    $20
  44. Nicole Allen 
    1 year ago
    $100
  45. Leslie Kehoe 
    1 year ago
    $100
  46. Christian Hunt 
    1 year ago
    $50
  47. Anne Wood 
    1 year ago
    $50
  48. Anna Thompson  
    1 year ago
    $50
  49. David Barbato 
    1 year ago
    $50
  50. John & Darlene Lilly 
    1 year ago
    $50
  51. Mark Benson 
    1 year ago
    $50
  52. Tim Guthrie 
    1 year ago
    $100
  53. Frank DeBonis 
    1 year ago
    $100
  54. Rachel Daniels 
    1 year ago
    $50
  55. Kara Harvey 
    1 year ago
    $50
  56. Zandra Faulkner 
    1 year ago
    $100
  57. Julie Ambrose 
    1 year ago
    $20
  58. Cristina Lippman 
    1 year ago
    $50
  59. Justin Pappas 
    1 year ago
    $20
  60. Marie Collings 
    1 year ago
    $50
  61. Stephanie Owen 
    1 year ago
    $50
  62. Tara LoBianco 
    1 year ago
    $10
  63. Kristen Havey 
    1 year ago
    $26.20
  64. Daniel Eng 
    1 year ago
    $100
  65. Eileen Sheets 
    1 year ago
    $25
  66. Amy Austin 
    1 year ago
    $30
  67. Karen Robinson 
    1 year ago
    $50
  68. kelly gilbert 
    1 year ago
    $50
  69. Kerin McLoughlin 
    2 years ago
    $100
  70. Karin Falk 
    2 years ago
    $30
  71. Marianela Ioakim 
    2 years ago
    $50
  72. Ana & Jaime ForesQuero Llamas 
    2 years ago
    $50
  73. Michelle Roche 
    2 years ago
    $50
  74. Paul Carusi 
    2 years ago
    $25
  75. Tara White 
    2 years ago
    $20
  76. Michael Trainor 
    2 years ago
    $25
  77. J Richard Conrad 
    2 years ago
    $50
  78.  
    2 years ago
    $20
  79. Lisa DeGloria 
    2 years ago
    $25
  80. Valerie Giles 
    2 years ago
    $25
  81. Lori Hooley  
    2 years ago
    $40
  82. Jennifer Parkhurst 
    2 years ago
    $50
  83. Natalie Howard 
    2 years ago
    $50
  84. Katie Larson  
    2 years ago
    $25
  85. Mindy Meyer 
    2 years ago
    $25
  86. Irene & Dan Lionetta 
    2 years ago
    $100
  87. Emily Knapp 
    2 years ago
    $25
  88. Anna Backlund 
    2 years ago
    $20
  89. Lisa Teer 
    2 years ago
    $50
  90. Eva Frank 
    2 years ago
    $120
  91. Charlotte Lenfest 
    2 years ago
    $50
  92. Lisa Ritchie 
    2 years ago
    $50
  93. Kristina & Matt Brassel 
    2 years ago
    $25
  94. Angela Abbott 
    2 years ago
    $50
  95. Diane Bowe 
    2 years ago
    $50
  96. Brian Schaufenbil 
    2 years ago
    $100
  97. Nova & Zoey Gatu Johnson 
    2 years ago
    $50
  98. Lesa Botti 
    2 years ago
    $100
  99. Lana Popova 
    2 years ago
    $100
  100. Denise Illsley  
    2 years ago
    $30
  101. Anonymous 
    2 years ago
    $1,000
  102. Maura Szendey 
    2 years ago
    $26.20
  103. Helena Blomqvist 
    2 years ago
    $50
  104. Irina Penttinen-Klein 
    2 years ago
    $300
  105. Shannon Clough 
    2 years ago
    $25
  106. Henrik Strandberg 
    2 years ago
    $50
  107. Lucia Garduno 
    2 years ago
    $50
  108. Charlotte Cantone 
    2 years ago
    $100
  109. Ingrid Geygan 
    2 years ago
    $100
  110. Glenn Currie 
    2 years ago
    $20
  111. Hanna Frank 
    2 years ago
    $30
  112. Susan Kraemer  
    2 years ago
    $200
  113. Kenneth Chan 
    2 years ago
    $100
  114. Glen Hartford 
    2 years ago
    $50
  115. Nathalie Travaglia  
    2 years ago
    $25
  116. Susan Parke 
    2 years ago
    $25
  117. Suzan Seran 
    2 years ago
    $50
  118. Ulrika Gerth 
    2 years ago
    $20
  119. Olga Lee 
    2 years ago
    $50
  120. Marcia Anderson 
    2 years ago
    $500
  121. Mark Shipley  
    2 years ago
    $100
  122. K. Angelo 
    2 years ago
    $25
  123. Elizabeth Murphy 
    2 years ago
    $50
  124. Susan Bond 
    2 years ago
    $50
  125. Susan & Alan Harding 
    2 years ago
    $200
  126. Pam Fallon 
    2 years ago
    $50
  127. Maria Davidsson 
    2 years ago
    $100
  128. Anonymous 
    2 years ago
    $10
  129. Cheryl Bruk 
    2 years ago
    $25
  130. Daniel Bertrand 
    2 years ago
    $25
  131. Marie Sjodin 
    2 years ago
    $20
  132. Josefin Berg 
    2 years ago
    $50
  133. Kristyn Perry 
    2 years ago
    $15
  134. Scott Chase 
    2 years ago
    $50
  135. Barry Cullen Jr. 
    2 years ago
    $100
  136. Karin Sodervall 
    2 years ago
    $25
  137. Genevieve Rajewski 
    2 years ago
    $26
  138. Pete Paquette 
    2 years ago
    $100
  139. Jessica Stryhalaleck 
    2 years ago
    $25
  140. Linda Jelson 
    2 years ago
    $40
  141. Ingegerd Backlund 
    2 years ago
    $15
  142. Tom and Lyn Licciardello  
    2 years ago
    $50
  143. Tracy Reddy 
    2 years ago
    $25
  144. Jennifer Whitney 
    2 years ago
    $50
  145. Cecilia Forsberg 
    2 years ago
    $50
  146. BethAnne Magnuson 
    2 years ago
    $25
  147. Lotta Mathiasson 
    2 years ago
    $50
  148. Huda Zoghbi 
    2 years ago
    $500
  149. Carrie Leary 
    2 years ago
    $50
  150. Deborah Smith 
    2 years ago
    $50
  151. Frida Frank 
    2 years ago
    $30
  152. Michelle Krantz  
    2 years ago
    $20
  153. Stacey Pizzano 
    2 years ago
    $100
  154. Anonymous 
    2 years ago
    $50
  155. Christina Minicucci 
    2 years ago
    $52.40
  156. Liz Kelley 
    2 years ago
    $25
  157. Ruth Marrion 
    2 years ago
    $500
  158. Melanie Pappas 
    2 years ago
    $30
  159. Rusty Bilodeau  
    2 years ago
    $50
  160. Anonymous 
    2 years ago
    $100
  161. Gunnar Abrahamsson 
    2 years ago
    $20

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

Please upgrade today!