The story of Malia
When Malia was just a few months old, I noticed something wasn’t right. At 3–5 months, she struggled to sit up without falling, her body felt limp when I held her, and she made loud grunting noises that made me suspect tummy issues. Concerned, I voiced everything to her pediatrician, only to be told that all babies develop differently and to give her time.
By 6 months, nothing had changed. She still couldn’t control her weight, sit up, roll over, or hold her bottle—things most babies her age were learning to do. I also noticed alarming episodes where her muscles stiffened, and she would scream in pain. These episodes lasted under a minute but happened several times a day, leaving her exhausted. Despite my growing concerns, our pediatrician had no answers.
Then, on March 25, 2022, our world changed. Just as we were settling in for the night, Malia had her first febrile seizure at 7 months old. We rushed to the ER, where she was later transferred to another hospital for testing. After 24 hours of monitoring, doctors diagnosed her with “infantile spasms” and prescribed Keppra. But as time passed, we realized the medication wasn’t helping.
Determined to find answers, I pushed for a second opinion. The new neurologist, however, dismissed us—he only treated children with ongoing seizures. Instead, we were referred for genetic testing.
While we anxiously waited for results, we started Malia in therapy—PT, OT, and speech—five days a week. Then, the call came. The neurogenetics doctor confirmed what we never expected: Malia had RHOBTB2 genetic mutation syndrome—an ultra-rare disorder discovered in 2018, with fewer than 100 reported cases worldwide. This condition affects motor coordination, development, behavior, and can include epilepsy and intellectual disabilities.
Though Malia’s diagnosis was overwhelming, it gave us clarity. It confirmed what I had known all along—something was different. Today, we embrace her journey with love, advocacy & faith