IDefine celebrates two-year anniversary, accomplishments

On September 17, 2020, during the COVID pandemic, IDefine was launched. In the last two years, incredible progress has been made. On this KS Awareness Day, we’d like to reflect on our accomplishments, and share what’s next.

Our theme this year is empowerment, which is evident through the work we’ve done on our three organizational pillars of community, coordinated care, and research.

In just the last two years we have:

• Raised the funds to launch the Kleefstra Clinic at Boston Children’s Hospital. This has resulted in an incredibly impactful, centralized location for families to visit, and for clinicians to not only further understand KS, but to advise families on their journeys.

• Held a series of webinars across the globe that have educated and connected our community.

• Launched data collection partnerships that give families an active opportunity to contribute to research efforts.

• Convened this summer for the 2022 North American Kleefstra Conference. This was the first time we were able to meet in person as an organization, and as a community since 2018. For many, it was their first opportunity to meet and hug other KS families.

• Launched a Worldwide Map to better understand how many KS families there are, and where they’re located. This has fostered the ability to connect locally and regionally.

• Recruited a Scientific Advisory Board made up of world renowned and reputable scientists who are experts in their field, whether it be on Kleefstra Syndrome specifically, or on a particular therapeutic pathway.

• Provided guidance and support for multiple fundraisers including family Facebook fundraisers, Coffee for Kleefstra, the Marco Island Academy, Tour de Taverns, Giving Tuesday efforts, Rise Above, walk and runs, auctions, golf tournaments, and the Southern Roots Reunion. Funds raised by these events have enabled IDefine to make progress toward a breakthrough to help bring a life-changing treatment to our loved ones.

• To that end, we are proud to announce that we recently signed a contract to develop iPSC’s, cell line models that have been created with Kleefstra Syndrome for which we could use to test potential therapeutics. This effort, coupled with existing mice models, will provide information critical to determining effectiveness and safety issues prior to going into human clinical trials.

• Additionally, we are about to launch BECK: The Biomarker and Endpoint Consortium for Kleefstra Syndrome. This effort will help us identify clinically meaningful outcomes for a potential clinical trial and help us answer critical questions such as: What does our community consider a better quality of life for our loved ones? How can we help them reach their potential?

We have truly done some amazing work over the past two years, but there is much more to be done. We have new families being diagnosed every week. IDefine CEO Geoff Rhyne is working daily to connect with each of them to introduce them to our beautiful community and the effort we are building.

That said, we have new challenges to overcome as parents and as shepherds of this effort. We have been told there is a “lack of prevalence” of this condition–but we are small, we are mighty, and we are growing every day.

For IDefine to continue to reach important milestones on behalf of the KS community, we need your help. Regardless of your schooling or training, you have the potential to help champion our effort. We ask that you harness the passion you have for your KS loved ones by providing your time and energy, or through a financial contribution. We need you.

Thank you to our volunteers, our supporters, and our donors. Together we have accomplished so much. Happy Kleefstra Syndrome Awareness Day!