Baby Emery: The Little Girl Fighting a Rare Disease With the Help of Dedicated Doctors and Her Family

When Courtney and Kevin welcomed their baby girl, Emery, in May 2024, they could never have imagined how quickly their lives would change. Before she was even a day old, their newborn was rushed to the neonatal intensive care unit at Children’s Hospital of Orange County (CHOC) in California.

What began as a frightening medical emergency soon became a search for answers. Five days after her birth, doctors identified a rare mitochondrial disease that would bring significant challenges to Emery and her family.

A Rare Diagnosis in Her First Days of Life

Mitochondria are tiny structures inside our cells that help produce the energy the body needs to function. When these structures cannot work properly because of a genetic disorder, the effects can involve multiple organs and systems.

Emery was diagnosed with an exceptionally rare form of mitochondrial disease. According to CHOC, only about 100 cases of this particular form had been identified worldwide since the condition was first described in 2012.

For her parents, receiving such an unusual diagnosis meant facing a future filled with questions. Doctors explained that the condition was progressive, and it was difficult to predict how Emery would develop over time.

Her family did not have all the answers, but they were determined to give their little girl the best care possible.

Ten Weeks in the Hospital

Emery spent her first 10 weeks in the neonatal intensive care unit. During that time, her medical team worked carefully to understand her body’s needs and develop a suitable nutritional plan.

Her condition affected the way her body processed sugars to produce energy. Rather than allowing her to receive an ordinary feeding plan without careful monitoring, doctors needed to adjust her diet to provide essential nutrition while reducing the risk of a dangerous metabolic crisis.

Finding the right balance required close observation and the combined expertise of specialists familiar with metabolic and mitochondrial disorders.

For Courtney and Kevin, the uncertainty was emotionally exhausting. There were days when they wondered whether their daughter would ever be able to leave the hospital.

Yet the medical team continued working with them, explaining Emery’s care and helping the family prepare for the next stage of her journey.

The Joy of Bringing Emery Home

After 10 weeks of intensive care, Emery was finally able to return home with her family. It was a deeply meaningful milestone for parents who had spent so much of their newborn daughter’s early life inside a hospital.

Going home did not mean that her medical challenges had disappeared. Emery still needed regular appointments, careful nutritional management, and continued support from specialists.

She returned to CHOC for weekly checkups with the metabolic team. This ongoing care allowed doctors to monitor her condition and help her family respond to her changing needs.

For her parents, being able to care for Emery at home gave them the opportunity to focus on family life while continuing to work closely with the people supporting her health.

Her Family Is Holding on to Hope

Emery’s parents understand that her condition remains serious and that her long-term future is uncertain. They have been told that children with this disease can have very different outcomes, making it difficult to know exactly what lies ahead for their daughter.

Rather than giving up hope, Courtney and Kevin have chosen to support research into the rare disorder that affects their child.

With their permission, Emery’s cells were included in a research study at CHOC investigating rare mitochondrial diseases. The family also established a fundraising initiative to help support metabolic research.

They believe that learning more about the condition could improve understanding, help doctors develop better approaches to care, and potentially benefit other children facing similar diagnoses.

A Little Girl Inspiring Important Research

Emery’s story highlights the challenges families face when a child is diagnosed with an extremely rare genetic disease. It also shows why specialized medical teams, continued follow-up, and research are so important.

Although no one can predict every step of Emery’s journey, her family continues to work alongside her doctors to protect her health and give her the best quality of life possible.

For Courtney and Kevin, every day with their daughter matters. Their experience is a reminder that hope does not always mean having certainty about the future. Sometimes, it means continuing to seek answers, making the most of the time together, and helping science move forward for the children who come next.

Sources

• CHOC Children’s Foundation
• Children’s Hospital of Orange County (CHOC)