Josephine and her love for music.
She loves looking at picture books and sitting at the piano, picking out notes on the keyboard. But behind that friendly smile is a diagnosis so rare that researchers are still working to understand exactly what it means. Josephine is one of only a small number of known patients worldwide living with GEMIN5-related neurodevelopmental disorder, an ultra-rare genetic condition that affects brain development, movement, speech and coordination.
For her family, the diagnosis brought answers, but it also brought a new uncertainty. Because GEMIN5 was only recently identified as a distinct disorder, there is still much that doctors do not know about its long-term progression. Researchers believe the condition affects the development of the cerebellum, the part of the brain responsible for coordination, balance and motor control. Patients often experience developmental delays, low muscle tone, seizures, speech difficulties and challenges with mobility.
Shortly after birth, Josephine experienced torticollis, a condition that left her unable to turn her head normally. She later required a cranial helmet and began receiving therapy after developmental delays became apparent. Doctors eventually diagnosed her with hypotonia, or low muscle tone, and when she began experiencing absence seizures (brief loss of awareness), further testing was ordered. Full genome sequencing at UTMB provided the answer her family had been searching for: GEMIN5.
Like many families affected by rare diseases, they suddenly found themselves navigating a world with few definitive answers. Researchers are still learning about the condition, and even top specialists have limited experience treating it. Yet Josephine's parents have chosen to focus on helping their daughter reach her fullest potential. That journey has been made easier through the support of Shriners Children's Texas staff.
My goal is to relieve pain, improve function and restore cosmesis. That's what we can do for these patients with rare conditions: improve their quality of life.
While there is currently no cure or definitive treatment for GEMIN5-related neurodevelopmental disorder, Shriners Children's Texas staff plays an important role in helping children like Josephine manage the physical challenges that often accompany the condition. Rather than treating the underlying genetic disorder itself, the care team focuses on supporting mobility and overall function. For children with rare diagnoses, that support can make a significant difference in their daily lives.
"My goal for these kids is to support them in their growth and development, whether that's with therapy, bracing or surgery," said Cody J. Sanderson, M.D. "My goal is to relieve pain, improve function and restore cosmesis. That's what we can do for these patients with rare conditions: improve their quality of life."
Since becoming a patient earlier this year, Josephine’s family has found a care team committed to helping them navigate everything from therapies to adaptive equipment and future mobility needs. Just as importantly, they have found people willing to listen.
"Everyone we've met has been absolutely fantastic," said Josephine's mother, Kelsey. "They've just been so caring and helping us figure out, 'What are your needs, and how can we help?'"
For the family, that support has been especially meaningful. Kelsey, a former elementary music teacher, left the classroom to become Josephine's primary caregiver. Her husband continues to teach high school music, and together they balance the everyday responsibilities of raising Josephine and her older sister.
When you get to know Josephine, you will see much more than her condition. The daughter of two music educators, she has developed a remarkable love of music. While most toddlers struggle to sit through a television show, Josephine sits completely captivated by a performance of Mozart's Piano Concerto No. 20 in D minor, watching the orchestra play the entire piece. She also enjoys sitting at the piano, turning pages in her favorite books and spending time with her older sister, Kennedy, who has been learning sign language alongside her.
Amid all the unanswered questions about her condition, Josephine’s family sees a little girl full of joy and childlike wonder. And while researchers continue working to better understand GEMIN5, Josephine is focused on something much simpler: discovering the world around her, one book, one piano note and one smile at a time.
