Autism - Or not?
What is CAMK2?
CAMK2 is a rare genetic disorder that was discovered in 2017. The disease disrupts
calcium signaling, leading to developmental, emotional, and physical symptoms. This impacts brain development, behavior, and overall functioning — leaving families searching for answers and treatments.
Misdiagnosis, Hidden Numbers, and Proper Categorization
Only about 300 children worldwide have been officially diagnosed, but many more remain undiagnosed or are misdiagnosed. But there is hope: these kids show potential, and researchers believe targeted treatments are on the horizon. Proper categorization ensures children are ready when therapies become available. The more awareness grows about CAMK2 and similar diseases, the more likely that diagnosis, treatment and insurance coverage will follow.
The Importance of Whole Genome Sequencing
Children who don’t clearly fit traditional neurodevelopmental diagnoses, such as Autism, 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.
Sienna’s Story
Sienna struggled with fight-or-flight responses, developmental delays, and severe health problems since birth — but remained undiagnosed for 18 years. Some thought it was Autism or Cerebral Palsy. She had symptoms of both but did not meet the full criteria for either. Her parents were left confused, alone, and hopeless while the medical community failed to help. Her journey shows the urgent need for accurate diagnosis and tailored treatment.
How You Can Help
Dr. Dina Friedman, a clinical psychologist, Director of Programs for Special Needs Individuals, and mother of Sienna, is devoted to advocating for CAMK2 families. Because CAMK2 is so rare, funding is scarce. Somewhere between 300 to 400 children have been diagnosed. Dina is leading the charge and taking it upon herself to start a foundation offering Limitless Pathways to help those with special needs. Any contribution — even $5 — helps families and accelerates research. Donations fuel awareness, advocacy, and treatment development.
Please donate today and together, we can bring hope and change for CAMK2 children.
What is CAMK2?
CAMK2 is a rare genetic condition, with about 300 diagnosed patients worldwide, though the true number is likely higher due to under-testing and misdiagnosis. CAMK2 mutations cause dysregulation of calcium signaling, leading to physical, developmental, and behavioral symptoms.
While there are no current targeted treatments, scientists and physicians are optimistic—some predict targeted therapies could be available within three years. A landmark study in Rotterdam demonstrated complete reversal of symptoms in mice, offering real hope for translational therapies.
CAMK2 is typically a single gene mutation and is usually not inherited, which opens the door for precision genetic or molecular treatments. Progress in CAMK2 research will likely benefit related disorders such as GRIN and SYNGAP.
