Around 6 months ago our sweet little boy, Graham, was diagnosed with a chromosome deletion (specifically 9q 34.3), also known as Kleefstra Syndrome (KS). KS is a very rare genetic syndrome (only 500 cases have been diagnosed globally) that presents through intellectual and physical disabilities. Right now for Graham, this means a delay in motor skill milestones — sitting up, crawling, bearing weight on his legs — along with delays in speech. Due to low muscle tone, Graham struggled with feedings and weight loss until 3 months ago, when we finally learned he was aspirating formula into his lungs. This resulted in surgery for a feeding tube.
Derek and I are determined to do everything possible to ensure Graham reaches his full potential and we continue to see great progress in his capabilities. He’s come so far!
Recently we learned of a nonprofit organization, IDefine, working towards gene therapy and drug treatment options that could be a game changer for Graham and others with KS. We humbly ask for your help in reaching this goal and to help us spread awareness of KS. Thank you to everyone that has helped us with our KS journey thus far — we hope to share even more progress in the months and years to come!
IDefine is a US-Based Charity organization developed in 2020, intent on finding a cure for Kleefstra Syndrome, a rare genetic syndrome with approximately 500 diagnosed cases globally.
Our organization has three areas of focus: establishing a Kleefstra Syndrome Center of Excellence @ Boston Children's Hospital, funding scientific research and development, and building a network for community outreach and support. We have ambitious goals @ IDefine and will not stop until we find a cure!
All proceeds from this fundraising campaign will be routed through our Fiscal Sponsor (Player's Philanthropy Fund) and allocated directly to IDefine in support of defined Kleefstra research projects.
Please visit www.idefine.org for more information about our Charitable Foundation.
Thank you for your support!