Awareness and Advocacy
Turning one family’s search for answers into progress for every family living with CAMK2.
The power of a diagnosis
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.
Rare, but not as rare as we think
people worldwide have been officially diagnosed with CAMK2
~400
Only about 400 people worldwide have been officially diagnosed with CAMK2, but many more are likely living without answers. Getting the right diagnosis matters, because it connects families to research and care and means individuals are ready when targeted treatments become available.
For anyone who doesn’t clearly fit a traditional neurodevelopmental diagnosis, whole genome sequencing can reveal conditions that weren’t even known a decade ago, bringing clarity, direction, and hope.
Partnering with the Milken Institute to accelerate research
Featured Partnership
Together, these initiatives are building the scientific and clinical foundation needed to accelerate discoveries, improve care, and move closer to effective treatments.
A biotech collaboration
Exploring whether existing medications or other compounds may help individuals with CAMK2-related disorders.
Specialized care at Mass General
A dedicated clinical care and research program for CAMK2-related disorders.
Animal models
An existing mouse model, with fruit fly models now in development, to better understand CAMK2 and test potential treatments.
Dr. Dina Friedman has partnered with the Milken Institute’s Science Philanthropy Accelerator for Research and Collaboration (SPARC) to help accelerate research and improve clinical care for individuals with CAMK2-related neurodevelopmental disorders. This collaboration resulted in CAMK2-Related Neurodevelopmental Disorders: A Giving Smarter Guide, an independent, objective, and comprehensive assessment of the scientific landscape that identifies critical research gaps, promising therapeutic opportunities, and strategic priorities for advancing the field.
CAMK2 families heard by the FDA
In August of 2026, for the first time in history, CAMK2 families sat down with the U.S. Food and Drug Administration to share their stories, in their own words and on the record. Dr. Dina Friedman, mother of a daughter living with CAMK2 and a member of the CAMK2 Therapeutics Network Parent Board, led the effort behind this FDA Patient Listening Session.
Listening sessions are a formal part of the FDA’s patient-focused drug development process, so these families’ experiences are now part of the public record, available to the scientists, companies, and regulators working to develop treatments for rare neurological conditions. Just a few years ago, most people had never heard of CAMK2. Today, families are speaking directly to the people who shape the future of treatment.
A first for the CAMK2 community
How you can help
For the first time, there is a real path forward, but progress depends on awareness and funding. Your support can help unlock treatments, improve care, and change the future for individuals living with CAMK2.
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