My baby girl had a hand in that cure
In laboratories and in grief, researchers have traced the origin of a devastating childhood seizure disorder to mutations in a single gene called DENND5A — a discovery built, in part, on the brief life of a girl named Adelaide who died just before her fourth birthday. The finding, emerging from The Neuro and involving the genetic material of 22 affected children, reveals how this mutation quietly disrupts brain formation in the womb, leaving families who once wandered in diagnostic darkness with something they rarely had before: a name, a cause, and a path forward. Science cannot yet undo what the mutation does, but it can now be seen — and what can be seen can, in time, be changed.
- Children are suffering catastrophic seizures from birth, their families unable to name the cause or find others who understand what they are living through.
- Without a diagnosis, parents face impossible decisions about future pregnancies with no genetic data, no odds, no community — only silence and uncertainty.
- Researchers at The Neuro identified DENND5A mutations as the culprit, showing precisely how the gene disrupts cell division during fetal brain development and compresses the window for normal brain formation.
- Families can now access genetic testing, consult counselors with real probabilities, and connect with others carrying the same mutation — transforming isolation into informed agency.
- Gene editing technology is advancing toward the possibility of correcting this specific mutation, though a clinical treatment remains years away, and the research itself stands as a tribute to the children whose DNA made it possible.
Kelly Cervantes' daughter Adelaide began seizing shortly after birth. For years, no doctor could explain why. The family lived without a diagnosis, without community, without any map of what lay ahead. Adelaide never developed beyond the abilities of a very young infant. She died five days before turning four.
Cervantes enrolled Adelaide in a research program for undiagnosed illnesses, hoping answers might still come after her daughter was gone. Eventually, researchers at The Neuro reached out. They were studying the genetic roots of severe childhood seizures and wanted to include Adelaide's case. Cervantes agreed.
Working with genetic material from Adelaide and 21 other affected children, scientists grew stem cells in laboratory dishes using each child's own DNA. The finding was precise: mutations in a gene called DENND5A were disrupting how brain cells divide during fetal development. Fewer stem cells formed than normal, compressing the critical window for brain architecture to take shape. The result was a brain that never fully developed.
The discovery changed what families could do. Genetic testing became available to relatives who might carry the mutation. Parents could now make informed choices about future pregnancies, and genetic counselors could offer real probabilities instead of silence. For families who had lived in isolation, the diagnosis opened a door — not to a cure, but to knowledge and community.
The research also gestures toward a future that is distant but no longer unimaginable. Gene editing is advancing, and scientists now know the specific error to target. One day, that error might be corrected before harm is done. Cervantes finds meaning in that possibility. Her daughter's genetic code, studied in those laboratory dishes, contributed to an understanding that could spare other families the suffering hers endured — and she finds something extraordinary in the thought that Adelaide had a hand in that.
Kelly Cervantes' daughter Adelaide began seizing shortly after birth. The seizures came without warning, without explanation. Doctors examined her, ran tests, consulted colleagues. No one could say why it was happening or what would come next. For years, the family lived in a kind of medical darkness—no diagnosis to anchor their understanding, no community of others walking the same path, no way to know if Adelaide would improve or what her future held. She never developed much beyond the abilities of a three-to-six-month-old infant. She died five days before turning four.
The not-knowing may have been as hard as the seizures themselves. Cervantes enrolled Adelaide in a research program for undiagnosed illnesses, hoping that even after her daughter was gone, the answers might come. They did, but too late for Adelaide. After her death, researchers at The Neuro called. They had been studying the genetic roots of severe childhood seizures and wanted to include Adelaide's case. Cervantes agreed.
The scientists worked with genetic material from Adelaide and 21 other children with the same devastating condition. They grew stem cells in laboratory dishes, using each child's own DNA as a blueprint. What they found was precise and consequential: mutations in a gene called DENND5A were causing the problem. The mutation disrupted a crucial process during fetal brain development. Brain cells couldn't divide as they should. The developing embryo ended up with fewer stem cells than normal, which compressed the window of time during which the brain could form its basic architecture. The result was a brain that never fully developed.
This discovery transformed what the families could do next. Genetic testing became possible for relatives who might carry the same mutation. Parents could now make informed decisions about having more children. Genetic counselors could calculate the actual odds of passing the condition to a future child. For families who had lived in isolation and uncertainty, the diagnosis opened doors—not to a cure, but to knowledge, community, and choice.
The research also points toward a future that remains distant but no longer purely theoretical. Gene editing technology is advancing rapidly. Scientists now understand the specific genetic error that causes this form of severe seizure disorder. One day, perhaps years from now, that error might be corrected before a child is born or in early infancy. The mutation could be fixed.
Cervantes thinks often about what Adelaide's participation in the research might mean. Her daughter's genetic code, studied in those laboratory dishes, contributed to an understanding that could eventually spare other families the suffering hers endured. "Maybe someday down the road, the next Adelaide will have a treatment, and there will be an answer for that family," Cervantes said. "And how incredible is that to think, that my baby girl had a hand in that?" The study is published. The answers are there. The waiting begins for the treatments that might follow.
Citações Notáveis
We never had an overarching diagnosis for her, which was extraordinarily frustrating and isolating.— Kelly Cervantes, Citizens United for Research in Epilepsy (CURE)
Maybe someday down the road, the next Adelaide will have a treatment, and there will be an answer for that family.— Kelly Cervantes
A Conversa do Hearth Outra perspectiva sobre a história
What made Kelly Cervantes decide to let researchers study her daughter's case after Adelaide had already died?
The isolation was unbearable. Without a diagnosis, she couldn't find other families, couldn't understand what was happening, couldn't plan. When the researchers called, it was a chance to give Adelaide's suffering some meaning—to turn her case into knowledge that might help someone else.
How did the scientists actually figure out it was the DENND5A gene?
They took genetic material from Adelaide and the other affected children and grew stem cells from it in dishes. By watching how those cells behaved, they could see the mutation at work—the cells weren't dividing properly. That's when the picture became clear.
So this discovery doesn't cure Adelaide's condition, but it changes what families can do?
Exactly. Now a parent who carries the mutation can be tested. A couple can know the odds before deciding to have children. They're not trapped in the dark anymore. And it opens the door to gene editing someday, though that's still years away.
Does Cervantes see this as a kind of legacy for her daughter?
Yes. She talks about it as Adelaide having a hand in a future cure. It's not redemption—Adelaide still died too young—but it's the possibility that her case mattered, that her genetic code helped unlock something that could save the next child.