Signature Event: The Walk for Strength is the signature event of the Association for Creatine Deficiencies.
Community Support: Brings together families, advocates, and communities to support individuals affected by Cerebral Creatine Deficiency Syndromes (CCDS).
Awareness: Create powerful space for rare disease families to raise awareness, build connections, and drive change.
Impact: Your support makes a lasting impact on rare disease families and brings hope, awareness, and strength.
💰 Fundraising Goals
PatientStrong Fund: Funds raised will go directly to the ACD PatientStrong Fund, powering all ACD initiatives.
Lifesaving Research: Every donation helps drive research, caregiver education, and advocacy for early intervention through newborn screening.
Change Lives: Supporting this event helps fund vital research and empowers families with essential resources.
Early Diagnoses: Aim to push for earlier diagnoses that can significantly improve lives.
🧠 About CCDS
Definition: Cerebral Creatine Deficiency Syndromes (CCDS) are rare, in-born errors of metabolism resulting in a lack of creatine in the brain.
Types: Include AGAT Deficiency, GAMT Deficiency, and Creatine Transporter Deficiency (CTD).
Function: Creatine helps supply energy to all cells in the body, essential for brain and muscle function.
Diagnosis: Often delayed due to non-specific symptoms and lack of clear dysmorphic features, patients are misdiagnosed.
🔍 Prevalence and Case Details
Estimations: Approximately 1% of individuals with intellectual disabilities of unknown origin may have CCDS.
CTD Statistics: Represents the second largest cause of x-linked mental disability behind Fragile X syndrome.
Documented Cases: Over 100 documented cases of GAMT Deficiency: AGAT is the rarest type with only a few dozen cases.
Community Impact: Driven by passion, the CCDS community works to educate, advocate, and fund research.
🌟 Community Story
Local Family: The Grahams, who live in the Charlotte area, host the Walk for Strength 5K.
Inspiration: Their son Levi, who has CTD, faces daily challenges yet inspires with his joy and resilience.
Support: The community is united in advocating for treatments and cures, fueled by stories like Levi's.
Path Forward: Support is essential for accelerating research and believing in a brighter future.