A physician-mother recounts her daughter's terrifying journey from an undiagnosed "Exorcist"-like illness to the discovery of a rare genetic disorder, revealing how understanding one broken pathway may unlock new treatments not only for CAMK2 disease, but for many neurological and psychiatric disorders.
"Bonnie Dwyer, MD is a maternal-fetal medicine physician, co-founder, and Executive Director of the CAMK2 Therapeutics Network (CTN), a nonprofit organization dedicated to accelerating the development of treatments for CAMK2-related neurodevelopmental disorders.Dr. Dwyer's journey into rare disease advocacy began as the mother of Alexandra, one of the first individuals diagnosed with a CAMK2-related disorder. After years of searching for answers, she and her husband, Ian Carroll, transformed their family's experience into a global effort to advance research, improve clinical care, and build an international community of families, clinicians, and scientists.
Under Dr. Dwyer's leadership, CTN has established an international scientific network, launched seed grant programs, supported natural history and biomarker studies, helped develop Centers of Excellence, and fostered collaborations across academia and patient advocacy organizations. CTN has also been recognized through support from the Chan Zuckerberg Initiative's Rare As One Network, enabling the organization to expand its scientific and organizational capacity.
In addition to her leadership role, Dr. Dwyer is an active contributor to the scientific literature. Working alongside the CAMK2 ENCORE team at Erasmus MC in Rotterdam, she co-authored one of the first comprehensive reviews of CAMK2-related disorders, integrating the natural history of the disease with emerging evidence for potential precision medicine and drug repurposing strategies.Drawing on her unique perspective as both physician and mother, Dr. Dwyer is a passionate advocate for patient-centered research and translational science. She frequently speaks on the power of rare disease to illuminate fundamental biology, emphasizing that understanding CAMK2 dysfunction has implications not only for affected families but also for broader neurological and psychiatric conditions, including bipolar disorder, Parkinson's disease, Alzheimer's disease, and addiction.Dr. Dwyer's mission is to ensure that no family faces a CAMK2 diagnosis without hope—and to help transform scientific discovery into effective treatments."
Story Transcript
“She reminds me of the girl from The Exorcist”. The words were casual. They were spoken by a medical student during rounds outside my daughter's hospital room. I was standing there, too. Not just as a mother, as a physician. I was trying to play both roles. It's much easier to be a physician.
As a physician, I can tolerate uncertainty as a mother. It is excruciating. I look through the doorway at my seven year old. My daughter, Alexandra. Alex. Purple restraints wrapped around her arms to keep her from hurting herself. A feeding tube ran from her nose. Pillows were taped to the bed rails because she kept slamming into them.
My husband was lying beside her, holding her close, trying to keep her calm and keep her safe so she would not have to be tied down. He had to do it. I wasn't strong enough. Not physically, not emotionally. I studied her face. Her big blue eyes. So beautiful. So familiar, so loved. She looked at me, but she didn't see me. Sometimes I would catch a flicker of recognition, a glimpse of the Alex I knew once. She looked at me and made a slurping sound. A lion's kiss. Our special code from The Lion King. The way Simba and his mother tell each other they love one another. She recognized me. She was telling me she loved me. For a moment I felt the hope. And then I felt the loss all over again.
Because I knew she was in there. I just didn't know how to reach her. Her body writhed across the bed. She screams. I looked at my husband. Silent tears filled his eyes. The girl from The Exorcist. Even as a physician, I didn't have better words. We tried. Delirium. Psychosis. Altered mental status. But medicine. If you don't have a diagnosis, you don't have a treatment. You only have suffering. And there I was again, standing outside her room, clinging to my role as a physician because it felt safer than being a mother, as a mother.
The helplessness is suffocating. I was scared, more scared than I'd ever been in my life. Would Alex stay this way? Was she dying? I couldn't sleep, I couldn't eat. I forced down food just to keep functioning. I could see no future without her. And so I let myself cry. And then the memories came. The truth is, Alex's story didn't begin in that hospital room. It began seven years earlier on her first day of life. There was something different. She couldn't nurse. She couldn't coordinate her body. As the months passed, she missed milestone after milestone. My husband fashioned a skateboard as a scooter to help her crawl. With years of therapy, by age five, she could finally walk. She could finally talk. My husband and I were both physicians. We travelled the country looking for answers. There weren't any.
Like many parents of undiagnosed children, I sometimes blame myself. But one thing I knew with certainty was that I loved her fiercely. Completely. When she was seven years old, everything changed. She began having what we first called spells. Later we would call them neuropsychiatric episodes. At first she cried for days and then suddenly she would return to herself. Over time, the episodes became worse. She was inconsolable. She stopped talking, stopped eating, stopped drinking. We went from doctor to doctor, but no one could explain what was happening. During the worst episodes, we held her down and pushed Gatorade into her mouth with a syringe just to keep her alive. The episodes escalated. Violence. Self-injury. Looking back, it seems obvious this was an ultra rare disease, but at the time it was simply chaos. And eventually, that chaos brought us back to the hospital room, the room where I was convinced I was losing her. To borrow words from another author. Her brain was on fire. And then two weeks later, crying.
My husband called me and said just two words. “She's back”. She had opened her eyes.
She had looked at my husband and said, “daddy, why do I have a pulse oximeter on my finger?” And in that moment, he knew. I knew she was back. I fell to my knees and sobbed. Because I could live with intellectual disability. What I could not live without was Alex.
I wanted my daughter, the girl who lived her life as if she were a princess in a ballet. He saw the world in orange and pink and lavender. The girl who seemed to hear the Nutcracker playing softly in the background. Wherever she went, I had her back. We went home. Two weeks later, it happened again. Two weeks on, two weeks off. For eight months we lived from crisis to crisis. And then one day in the middle of an episode, Alex screamed, “my head is killing me!”
It was the first clue, the first glimpse of where she had been. I could see her for a minute. Somewhere within that abyss. Not possession by the devil, not madness. It was pain. And maybe a little psychosis. But for the first time we had a direction. We treated her for severe headache. And she got better. Not cured. Not perfect, but better. That was the moment that changed everything. Three years later, the puzzle pieces finally came together. Alex became one of the first 22 people in the world diagnosed with a camkk2 related disorder, a single genetic mutation affecting calcium signaling in the brain. Camkk2 is one of the brain's most important control switches. It helps regulate learning, movement, emotion, and consciousness. When it functions normally, the brain's signaling stays in balance. When it breaks, everything can begin to unravel. What we live through finally had a name, but something even more important.
We understood we could help her. This disease did not have to be a life sentence. We began to understand that the medications we had given Alex for headache were helping to normalize the underlying biology. Not perfectly. We still had to balance side effects to protect her heart, but it was proof. Proof that biology is not destiny. Today, Alex is 20 years old. The little girl I thought I was losing is sitting here with us today. She loves pink hair, her family, her friends and dancing. She still has episodes, but she's not been hospitalized in more than a decade. My husband and I founded the Camkk2 Therapeutics Network because no family should have to endure what ours did. Along the way, we learned something unexpected. This is not just a rare disease story. Camkk2 is one of the most abundant proteins in the brain. Its dysfunction has been implicated in conditions including bipolar disorder, Parkinson's disease, Alzheimer's disease, addiction, and other neuropsychiatric disorders. This means when we're able to understand this disease at its source, when we learn how to repair this broken pathway, we move one step closer to helping not only children like Alex, but all of us. I think about that medical student sometimes, the one who compared my daughter to the girl from The Exorcist. It was not meant to be unkind at the time. None of us had better words. Today we do.