She Is Only 2, and Her Love for Mozart Is Remarkable: Meet Josephine, a Girl Living With an Ultra-Rare Genetic Condition

Two-year-old Josephine loves picture books, family time, and sitting at the piano to explore its keys. While many toddlers have trouble sitting through a television show, Josephine can become completely absorbed in a performance of Mozart’s Piano Concerto No. 20 in D minor.

Her curiosity and love of music are just some of the things that make her special. Josephine also lives with an ultra-rare genetic condition that affects brain development, movement, speech, and coordination. Her family is learning about a diagnosis that still leaves many questions unanswered.

A Search for Answers

Shortly after birth, Josephine developed torticollis, a condition that made it difficult for her to turn her head normally. She later needed a cranial helmet and began receiving therapy when developmental delays became apparent.

Doctors also identified hypotonia, or low muscle tone. When Josephine began experiencing absence seizures, brief episodes involving a loss of awareness, her medical team ordered further testing.

Full genome sequencing at the University of Texas Medical Branch (UTMB) finally gave her family an answer: GEMIN5-related neurodevelopmental disorder.

Understanding an Ultra-Rare Condition

GEMIN5-related neurodevelopmental disorder is an extremely rare genetic condition associated with differences in brain development. Reported challenges can include developmental delays, low muscle tone, seizures, speech difficulties, and problems with movement and coordination.

Because the condition has only recently been recognized as a distinct disorder, researchers are still learning how it may affect children over time. There is currently no cure or definitive treatment for the underlying genetic condition.

For Josephine’s family, receiving a diagnosis brought some clarity, but it also meant facing uncertainty about what the future might hold.

Care Focused on Everyday Abilities

Josephine became a patient at Shriners Children’s Texas, where her care team focuses on supporting her physical function, mobility, comfort, and development.

Rather than treating the genetic condition itself, her clinicians work to address the physical challenges associated with it. Depending on her needs, support may include therapy, braces, adaptive equipment, and other individualized care.

Josephine has been fitted for ankle-foot orthoses to help support her mobility and balance. Her family has also found a team willing to listen to their concerns and help them navigate changing needs as she grows.

A Little Girl Who Loves Music

Josephine’s life is about much more than appointments and therapies. Her mother, Kelsey, previously worked as an elementary music teacher, while her father teaches music at a high school.

Growing up in a musical family, Josephine has developed a remarkable interest in classical music. She enjoys sitting at the piano, listening to performances, and turning the pages of her favorite books.

She also loves spending time with her older sister, Kennedy. Kennedy has been learning sign language alongside her, helping the sisters find more ways to communicate and connect.

Taking Life One Note at a Time

For Josephine’s parents, the future still holds unanswered questions. Researchers are continuing to study GEMIN5-related neurodevelopmental disorder, and the family must adapt as they learn more about her individual needs.

But when they look at Josephine, they see more than a rare diagnosis. They see a curious toddler who loves music, enjoys books, and finds joy in discovering the world around her.

With family support and a care team focused on her individual abilities, Josephine is continuing to grow and explore, one book, one piano note, and one smile at a time.

Source: Shriners Children’s, “The Joy of Music: Josephine’s Journey,” September 18, 2026.