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 (160)

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

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

Please upgrade today!