In this edition:

  • Marco Island high schoolers + community come up BIG for KS
  • Parent Peer Support initiative being launched!
  • IDefine participating in the BRAINmodel consortium
  • Plus a roundup of other KS-related feel-good news
 

Island Community Rolls Up BIG Support for KS

This holiday season, the people of Marco Island, Florida – young and old – are living the ethos “it’s better to give than to receive.”

More than 300 residents pedaled in a bicycle poker run called the Tour de Taverns on Dec. 4, raising $34,000 for IDefine. Meanwhile, high school students at the Marco Island Academy partnered with a local restaurant to raise another $900, adding to the $1,600 they had already raised selling baked goods and Kleefstra Syndrome awareness bracelets.

Residents of the small barrier island in the Gulf of Mexico about 20 miles south of Naples were made aware of Kleefstra Syndrome by Marie Lynn and Ray McChesney, the grandparents of 4-year-old Wynne Lockwood, who has KS.

Marie Lynn and Ray retired to Marco Island 18 years ago and have spent much of their time volunteering for numerous organizations and causes. When Marie Lynn approached Tour de Taverns organizer Jimmy Boylan about doing the event to benefit Wynne and IDefine, he was all for it.....

 

Parent Peer Support Initiative to Launch 

We would like to welcome you to join IDefine’s parent peer support system.  This is a volunteer-based program that connects parents and caregivers of loved ones with Kleefstra syndrome with other families who can offer support from their personal experience raising their own KS loved ones.  Think of it as making a new friend who understands what it’s like to navigate the giant and often overwhelming world of genetic disabilities, various therapies and special education.  Newly diagnosed families will be paired with a more seasoned KS caregiver who has offered to share what has been helpful for their family, or just be a friend who knows what you’re going through.

Any and all information shared is purely experiential and should not be considered as legal or medical advice.
If you would like to participate as either a newly diagnosed or more seasoned family, please email us at community@idefine.org.  Stronger together!

 

Kleefstra Syndrome in Research

For many brain disorders, it is becoming increasingly clear which DNA variation contributes to disease. However, an effective systematic approach for linking this knowledge and the underlying biological mechanisms to treatment options is mostly lacking. 

Thus, we are excited to participate in the BRAINmodel consortium studying living nerve cells in a dish, optimal treatment, and linking analyses to measures of outcome.

With a team of researchers from six Dutch knowledge institutions, BRAINmodel is introducing new research methods to improve treatment for developmental disorders of the brain. The scientific team will work together with societal partners, clinical associations and companies with the support of a grant from The Netherlands Organisation for Health Research and Development (ZonMw) to improve diagnostics and therapy decisions and to develop new therapies.

 

 
 
 
 

Quick Clips on Kleefstra

  • RARE-X: We are looking forward to the continued development of the RARE-X platform in 2022.  Insights into Kleefstra Syndrome and how it impacts our loved ones will be available in the new year, and we are keen to learn as much as possible.  The more you contribute, the more knowledgeable clinicians and researchers can become!  Currently, Kleefstra Syndrome is in 3rd place with 56 enrollees--let's make the medical community SEE AND HEAR US!  Sign up today!  RARE-X Sign Up 
  • New Merchandise: Our "I Love Someone Rare" collection is now available in our IDefine store.  Help spread awareness and show your support of our loved ones with Kleefstra Syndrome! 
  • End of Year Giving: Under a temporary, pandemic-related provision in the IRS Tax code, married couples filing jointly can deduct up to $600 in cash donations and individual taxpayers can deduct up to $300 in donations to recognized 501c3 charities like IDefine without itemizing!  This special provision permits donors to claim a limited deduction on their 2021 Federal income tax returns for cash contributions made to qualifying charitable organizations by year’s end, December 31, 2021. 10 days left!  Happy holidays to you and yours!
 
 

IDefine, Inc
925B PEACHTREE STREET NE BOX 2173  | Atlanta, Georgia 30309
unlock@idefine.org

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