A recent genetic investigation sheds light on a rare and devastating neurological condition, offering families clarity and the option for testing related mutations. This advancement helps families make more informed decisions regarding future family planning.
After Kelly Cervantes welcomed her daughter Adelaide into the world, the infant began experiencing severe seizures. Unfortunately, doctors were unable to provide a diagnosis or determine the cause of her condition.
“We never received a clear diagnosis, which was incredibly frustrating and isolating,” Cervantes recalls. “If we had one, we could connect with support groups or individuals facing similar symptoms. We also lacked insight into her prognosis and whether we could consider having more children.”
As time passed, Adelaide’s condition deteriorated, and tragically, she passed away just five days shy of her fourth birthday.
“She never developed beyond the physical capabilities of a three-to-six-month-old, and we were uncertain about her cognitive abilities. She was remarkable, but her life presented significant challenges.”
Cervantes had signed her daughter up for a research initiative focused on children with undiagnosed medical conditions. After Adelaide’s passing, she received an invitation to participate in a research project at The Neuro, and the results have now been shared publicly.
Researchers examined genetic samples from Adelaide and 21 other individuals with the same rare condition. By cultivating stem cells using the participants’ DNA, the team discovered that mutations in a gene known as DENND5A lead to dysfunction. This dysfunction interferes with the proper division of brain cells during their developmental stage, resulting in a brain that has fewer stem cells, which limits the critical developmental window as an embryo.
This revelation brings answers to families grappling with this uncommon ailment. It also enables relatives to undergo testing for the mutations, helping them make educated decisions about family planning. For instance, prospective parents who test positive for the mutation can receive guidance from genetic counselors on getting their partners tested and understanding the likelihood of passing on the condition.
With progress in gene-editing technologies, there is hope that one day this mutation could be corrected with the insights gained from this research. While such advancements may still be years away, Cervantes finds solace in the thought that her daughter’s contribution may help pave the way for a cure.
“Perhaps in the future, another child like Adelaide will have access to treatments, providing answers for their family. It’s truly amazing to think that my little girl played a role in that,” she adds.
