Sasha's Story

Told by her mother, Irena

Sasha loves to dance. She loves music. She loves to play with other children. She is full of life. She’s a hard worker. She’s empathetic. She also has a genetic mutation that causes physical and intellectual delays.

For Irena and her husband Dmitri, the birth of their twins was a long-awaited event. After a week in the NICU, Sasha went home to her parents and twin brother Leonard. Soon Irena and Dmitri started noticing differences in the twins’ behavior. Leonard was easily meeting developmental milestones; Sasha was not. Sasha’s unusual muscle tone and reluctance to make eye contact triggered questions. Irena and Dmitri started seeking answers.

After a year of appointments, tests, hitting dead ends, and getting misdiagnosed, Irena and Dmitri pursued whole genome sequencing which identified a rare mutation on gene DDX3X.

Irena and Dmitri now had DDX3X as an answer, but it only created more questions. Because there are only sixty known cases in the world, very few people knew anything about the mutation – and even fewer seemed interested in learning more. “For us, it was everything. For the world, it was nothing,” said Irena. But they didn’t give up.

Doctors were unable to give any sort of prognosis. The lab report noted the mutation as “of uncertain medical impact.” But their geneticist knew of a study that was about to be published about this specific mutation. Two months later, they got an update from the lab. The mutation was now linked to a range of physical and intellectual disabilities. Sasha’s challenges finally had a source.

Despite this victory, there was still the matter of Sasha’s development. She was one and a half at diagnosis; at two years old, she was still nonverbal and struggling with gross and fine motor skills. Irena felt “paralyzed with fear,” worrying that they wouldn’t be able to find a preschool that would accept Sasha. That’s when Irena and Dmitri heard about St. David’s Center.

Sasha was enrolled in speech therapy, occupational therapy, and the inclusive early childhood education program. Since then, she has made incredible progress. She now insists on dressing and feeding herself, and her babbling morphed into understandable speech. Sasha learns by imitation, so being in a preschool classroom with typically developing children has been an incredible motivator for her. 

Irena and Dmitri were so impressed with St. David’s Center’s preschool that they transferred Leonard here, too. “I know that eventually they will learn and grow at different paces,” said Irena,” so for them to have this time together is so important to us.”

St. David’s Center offered therapy services for Sasha and an educational environment for both twins, but it also offered Irena and Dmitri peace of mind.

Irena and Dmitri want what every parent wants: for their children to be included, and have the same opportunities to thrive that other children have. Sasha and Leonard’s needs are different, but St. David’s Center was able to meet both, together.