Boston Marathon for Adam 2019

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Dear family and friends,

The last two years in a row I’ve been fortunate to compete in the Boston Marathon. 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 honor of my son Adam and his condition Mecp2 Duplication Syndrome.

This is a rare genetic disorder which has prevented Adam from being able to speak, to run, and to play with other children. Adam further suffers from seizures, low tone and has a higher risk of infections. Many children with this condition don'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 manifested 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, meaning MECP2 Duplication Syndrome may be quite prevalent.

Learn more about MECP2 Duplication here.

What is the MECP2 Duplication Syndrome Fund at RSRT?

In an effort to immediately leverage RSRT's deep knowledge base and well established global scientific networks the MECP2 Duplication Syndrome Fund at RSRT was created in late 2010. The Fund puts the intellectual and scientific resources of RSRT immediately to work for the MECP2 Duplication/Triplication Syndrome community.
The Fund exclusively supports projects devoted to the study and means of treatment of MECP2 Duplication Syndrome. 100% of every dollar contributed is invested in research - not a single penny goes to overhead.
In 2012, a parent-driven effort was established to raise funds for the initial reversal experiments conducted at the Baylor College of Medicine. Families pledged to raise $401 to cover the cost of the experiments. The initiative was a success, and the 401 Project was born. All funds raised through the 401 Project initiative are directly deposited into the MECP2 Duplication Syndrome Fund at RSRT.

Learn more about RSRT here.

Supporters (29)

  1. Ruth Marrion 
    1 week ago
    $500
  2. Pete Paquette 
    1 week ago
    $100
  3. Melanie MacLean 
    1 week ago
    $100
  4. Caryl Haley 
    2 weeks ago
    $100
  5. Frida Backe 
    2 weeks ago
    $100
  6. Huda Zoghbi 
    2 weeks ago
    $500
  7. Kelly Gilbert 
    2 weeks ago
    $50
  8. Charlotte Lenfest 
    2 weeks ago
    $50
  9. Cheryl Bruk 
    2 weeks ago
    $50
  10. Genevieve Rajewski 
    2 weeks ago
    $30
  11. Dan & Michele Bertrand 
    3 weeks ago
    $25
  12. Shannon Donahue 
    3 weeks ago
    $20
  13. Leonardo Covarrubias 
    3 weeks ago
    $100
  14. COLLEEN HARRINGTON 
    3 weeks ago
    $100
  15. Heather Belson 
    3 weeks ago
    $26.20
  16. Josefin Berg 
    3 weeks ago
    $100
  17. Melanie Pappas 
    3 weeks ago
    $25
  18. Maria Ruedlinger Walker 
    3 weeks ago
    $25
  19. Linda Wells 
    3 weeks ago
    $100
  20. Janice Parsons 
    3 weeks ago
    $100
  21. Denise Francese 
    3 weeks ago
    $25
  22. Linda Jelson 
    3 weeks ago
    $30
  23. Anonymous 
    3 weeks ago
    $50
  24. Leslie Kehoe 
    3 weeks ago
    $50
  25. Jennifer Hawkes  
    3 weeks ago
    $50
  26. Elise Carbonell  
    3 weeks ago
    $50
  27. Randy Heins 
    3 weeks ago
    $100
  28. Pam Fallon 
    3 weeks ago
    $50
  29. Marcia Anderson 
    2 weeks ago
    $1,000

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