Sienna’s Story

My beautiful daughter Sienna struggled with fight-or-flight responses, developmental delays, and severe health problems since birth — but remained undiagnosed for 18 years. She showed characteristics of multiple disorders, but never enough to receive a clear diagnosis. We were left confused, isolated, and without answers. After years of testing, the answer was finally revealed: CAMK2.

What is CAMK2?

CAMK2 is a rare neurodevelopmental disorder caused by a single-gene mutation affecting the CAMK2 pathway, which plays a critical role in calcium signaling and neuronal communication. Because calcium signaling is central to brain development and synaptic plasticity, disruptions to the CAMK2 pathway can impact learning, emotional regulation, motor function, and overall neurological development. A diagnosis gave us clarity and connection — and revealed that research into CAMK2-related neurodevelopmental disorders is already underway.

Hidden Numbers and Proper Categorization

Only about 400 individuals worldwide have been officially diagnosed, but many more remain undiagnosed. Researchers believe targeted treatments are on the horizon. Proper categorization ensures individuals are ready when therapies become available. The more awareness grows about CAMK2 and related disorders, the more likely diagnosis, treatment development, and insurance coverage will follow.

The Importance of Whole Genome Sequencing

Individuals who don’t clearly fit traditional neurodevelopmental diagnoses should undergo whole genome sequencing. Medicine has changed: genetic testing now reveals conditions that were previously unknown. Diagnoses that didn’t exist a decade ago can now provide clarity, direction, and hope.

How You Can Help

Through Limitless Pathways partnership with the Milken Institute, a nonprofit, nonpartisan think tank, research has shown that one of the most effective ways to accelerate progress in CAMK2 is by supporting clinics that integrate specialized care, research, and family resources. Through this collaboration, the Giving Smarter Guide was created to help donors understand how strategic, evidence-based giving can drive meaningful impact.

For the first time, there is a real path forward — but progress depends on awareness and funding. Your support today can help unlock treatments, improve care, and change the future for individuals living with CAMK2.

Please donate today and together, we can bring hope and change for CAMK2 children.