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 (49)

  1. Kenneth Chan 
    3 days ago
    $100
  2. Glen Hartford 
    3 days ago
    $50
  3. Nathalie Travaglia  
    4 days ago
    $25
  4. Susan Parke 
    4 days ago
    $25
  5. Suzan Seran 
    5 days ago
    $50
  6. Ulrika Gerth 
    5 days ago
    $20
  7. Olga Lee 
    4 days ago
    $50
  8. Marcia Anderson 
    5 days ago
    $500
  9. Mark Shipley  
    6 days ago
    $100
  10. K. Angelo 
    6 days ago
    $25
  11. Elizabeth Murphy 
    6 days ago
    $50
  12. Susan Bond 
    6 days ago
    $50
  13. Susan & Alan Harding 
    1 week ago
    $200
  14. Pam Fallon 
    1 week ago
    $50
  15. Maria Davidsson 
    1 week ago
    $100
  16. Anonymous 
    1 week ago
    $10
  17. Cheryl Bruk 
    1 week ago
    $25
  18. Daniel Bertrand 
    1 week ago
    $25
  19. Marie Sjodin 
    1 week ago
    $20
  20. Josefin Berg 
    2 weeks ago
    $50
  21. Kristyn Perry 
    2 weeks ago
    $15
  22. Scott Chase 
    2 weeks ago
    $50
  23. Barry Cullen Jr. 
    2 weeks ago
    $100
  24. Karin Sodervall 
    2 weeks ago
    $25
  25. Genevieve Rajewski 
    2 weeks ago
    $26
  26. Pete Paquette 
    2 weeks ago
    $100
  27. Jessica Stryhalaleck 
    2 weeks ago
    $25
  28. Linda Jelson 
    2 weeks ago
    $40
  29. Ingegerd Backlund 
    2 weeks ago
    $15
  30. Tom and Lyn Licciardello  
    2 weeks ago
    $50
  31. Tracy Reddy 
    2 weeks ago
    $25
  32. Jennifer Whitney 
    2 weeks ago
    $50
  33. Cecilia Forsberg 
    2 weeks ago
    $50
  34. BethAnne Magnuson 
    2 weeks ago
    $25
  35. Lotta Mathiasson 
    2 weeks ago
    $50
  36. Huda Zoghbi 
    2 weeks ago
    $500
  37. Carrie Leary 
    2 weeks ago
    $50
  38. Deborah Smith 
    2 weeks ago
    $50
  39. Frida Frank 
    2 weeks ago
    $30
  40. Michelle Krantz  
    2 weeks ago
    $20
  41. Stacey Pizzano 
    2 weeks ago
    $100
  42. Anonymous 
    2 weeks ago
    $50
  43. Christina Minicucci 
    2 weeks ago
    $52.40
  44. Liz Kelley 
    2 weeks ago
    $25
  45. Ruth Marrion 
    2 weeks ago
    $500
  46. Melanie Pappas 
    2 weeks ago
    $30
  47. Rusty Bilodeau  
    3 weeks ago
    $50
  48. Anonymous 
    3 weeks ago
    $100
  49. Gunnar Abrahamsson 
    3 weeks ago
    $20

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

Please upgrade today!