Skip to content
sabrinacoen's profile image - click for profile

Sabrina Coen's Fundraiser:

Cure for Kleefstra 5K Walk & Roll Riehen

Sabrina's Photo
 

Cure for Kleefstra 5K Walk & Roll Riehen
October 11, 2017

Sunday October 22nd, 2017 at 10:00am NIiederholzboden tram stop  See more
Sabrina Coen

THE STORY:

Earlier this year, the mystery behind our beautiful Shannon’s challenges and difficulties was finally revealed through advanced genetic testing as she was diagnosed with Kleefstra Syndrome (KS). KS is a rare chromosome disorder caused by either a mutation or a deletion of the EHMT1 gene and has symptoms that can include intellectual and learning disabilities, muscular hypotonicity, speech impairment, walking difficulties, GI defects, heart defects, kidney/urological defects, respiratory infections and seizures. We have been extremely lucky and blessed that Shannon’s symptoms are on the milder end of the range, but many others with KS suffer through multiple surgeries, daily pain management, feeding tubes, seizures and other extensive medically fragile comorbidities. Some have shortened life spans. 


My good news is that there is a charitable foundation called GeneSpark that is funding promising research towards not only managing KS symptoms but actually reversing them. Through the assistance of their world-class Scientific Advisory Board, GeneSpark has identified three high-impact projects aimed at screening potential drug treatments for treating and reversing KS. Since the project launched last December, the team has already identified a compound that corrects deficiencies in Kleefstra brain cells. This is a very exciting discovery, and we are hoping to raise funds this year to conduct the next phase of research. To learn more about the current research, GeneSpark recently recorded a webinar, which you may view at the following link (be advised, it is quite technical, but interesting): https://vimeo.com/229644282. If we are able to close the funding gap, a treatment for KS and other intellectual disability disorders may truly be possible. 


On to more exciting news, I am participating in raising funds for GeneSpark supported research. I will be kicking off my efforts with our First Annual Cure for Kleefstra 5K Walk & Roll Riehen on Sunday October 22nd, 2017 at 10.00am, starting at the Niederholzboden tram stop and walking a loop in Lange Erlen. This will be a part of a global event that will take place throughout October 2017 as families and supporters affected by Kleefstra Syndrome all over the world will walk or “roll” (wheelchair, stroller or cycle!) their way across a self-designated 5K route in their local communities, all in support of funding a drug to treat or reverse KS. 


Please come out and join us on our walk! Any contribution you make, even if just in your presence, will be greatly appreciated. Feel free to share this page and invite your friends to come along as well. The more we create awareness of Kleefstra Syndrome, the closer we get to a cure. 


With sincere thanks. 


Learn more about GeneSpark and the important research they are funding. 


PS. All donations are receipted by email and are directed to the GeneSpark.org Fund at CAF America. We accept tax-deductible donations from U.S. taxpayers through our partnership with Charities Aid Foundation America (CAF America), an independent U.S. registered charity (registration number 43-1634280). 


All donations from Canadian tax payers are tax deductible and receipted by email. GeneSpark is a "doing business as" name for International KS Foundation, a Canadian registered charity with BN/Registration Number 820787992RR0001

DONATE

To This Fundraiser

$4,575

MONEY RAISED
  •  
  •  
  •  
  •  
  •  
  •  
  •  
  •  
  •  
  • Anonymous

    $100

  • Ian Kessler

    $50

  • Wadih

    $50

  • Donahoe George Family

    $50

  • Anne Morin

    $50

  • Fansmiths

     

  • Rania Kawar

    $100

  • Nancy Sadocha

    $100

  • The Bryson Family

     

  • Trang & Issa Barkett

    $100

  • Lil Shewmaker

    $100

  • Rima Afifi

    $50

  • Souraya Arayssi

    $100

  • John Kaufmann

    $100

  • Hinshaws

     

  • Jeff and Aya

     

  • Délice Herum aka "Miss Harris"

    $25

  • Shelley Blacksten

    $100

  • Jim Kreitler

    $100

  • The Boychyns

     

  • Anonymous

    $50

  • Anonymous

    $25

  • the maaloufs

    $250

  • Varaklis Family

    $100

  • The Gundy Family

     

  • Antoine Iskandar

    $500

  • Sama Parsons

     

  • Jules FitzGerald

    $25

  • Anonymous

    $100

  • Rozek Family

    $100

  • Uta, Lukas + Yann

    $100

  • Anonymous

    $100

  • Family Buchs

    $100

  • Schuler Family

    $150

  • Lauren Abrey

    $100

  • Walk and Roll cash donations

    $500

  • Michelle Taylor

    $25

  • The Kaufmanns

    $100

  • Anonymous

     

  • Hamam Family

    $250

  •  
  •  
  •  

Fundraise for this Campaign

The Team: $4,575 TOTAL RAISED SO FAR

JOIN THE TEAM

Want to help Fundraise or Volunteer for this amazing Fundraiser? Join the Team

Donor Comments

Hamam Family

Hamam Family

DONATION: $250

4 months ago

Anonymous

ANONYMOUS

The Buckley Family 4 months ago

The Kaufmanns

The Kaufmanns

DONATION: $100

4 months ago

Michelle Taylor

Michelle Taylor

DONATION: $25

4 months ago

Walk and Roll cash donations

Walk and Roll cash donations

DONATION: $500

4 months ago

Lauren Abrey

Lauren Abrey

DONATION: $100

4 months ago

Schuler Family

Schuler Family

DONATION: $150

4 months ago

Family Buchs

Family Buchs

DONATION: $100

4 months ago

Anonymous

ANONYMOUS

DONATION: $100

4 months ago

Uta, Lukas + Yann

Uta, Lukas + Yann

DONATION: $100

Good Luck!! 4 months ago