How a Fast CDKL5 Diagnosis and a Connected Community Changed One Family’s Journey

When Stella had her first seizure at just five months old, her family’s world stopped. In a single moment, they were thrown into the frightening unknown that so many families face when seizures enter their child’s life. Questions outnumbered answers, and fear threatened to overshadow hope.

Because of the International Foundation for CDKL5 Research (IFCR)’s long‑term investment in clinical care, there was already a CDKL5 Center of Excellence at UCLA; just a few miles from the family’s home in Los Angeles. By remarkable timing, Dr. Rajsekar “Raj” Rajaraman, Director of the UCLA CDKL5 Center of Excellence, happened to be the pediatric neurologist on call at their local UCLA office the day Stella first needed urgent care. His deep familiarity with CDKL5 Deficiency Disorder, supported by IFCR’s Center of Excellence model, meant he knew exactly what to look for and how to move quickly. 

Within a month of Stella’s first seizure, the family received an accurate diagnosis of CDKL5 Deficiency Disorder; a milestone that often takes other families years to reach. Having a diagnosis so early allowed them to get Stella connected to targeted care, aligned with specialists who understood her rare epilepsy, and to begin planning for both her medical needs and her future. From that moment, “Team Stella Strong” was born, united in the determination to partner with every organization, scientist, and researcher working toward better treatments and, ultimately, a cure.

IFCR became a central guide on this journey. Through its website, educational resources, and family network, Stella’s parents learned what questions to ask, how to advocate in complex medical settings, and what emerging research and clinical trials might mean for Stella over time. Just as importantly, they found a community of other CDKL5 families who understood the daily realities of seizures, hospital stays, therapies, and the constant balance of grief and hope.

In Stella’s first year after diagnosis, her family and friends came together around IFCR’s “Move CDKL5 Forward” event, rallying support from their wider community. Together, they raised more than $100,000 to advance CDKL5 research, increase awareness, and strengthen support for families like theirs. It was a powerful way to give back to the organization that had helped them secure a timely diagnosis, find the right specialists, and feel less alone. 

Today, Stella is six years old. She continues to shine with a contagious smile and fierce determination, embodying the spirit behind Team Stella Strong. Her story is one of courage, connection, and the profound impact that early diagnosis, expert care, and a dedicated patient community can have on a child living with CDKL5 Deficiency Disorder.