Soon after Emery was born in May 2024, doctors knew something was seriously wrong. Emery was rushed to CHOC’s neonatal intensive care unit (NICU) before she was even a day old. At five days old, we diagnosed her with a rare type of mitochondrial disease.
Found in nearly every human cell, mitochondria are responsible for creating 90% of the energy needed to sustain life and support organ function. Only about 100 cases of Emery’s form of the disease have been diagnosed worldwide since being discovered 12 years ago.
Fortunately, Emery was brought to just the right place. Her mother Courtney declares, “Very little is known in how to effectively treat mitochondrial diseases. We are beyond blessed to have lived in Orange County.
“Not only does CHOC have a metabolic clinical specialist team, but they have one of the few mitochondrial research labs in the country. For our daughter’s specific genetic condition, we also believe that CHOC has more patients than anywhere else in the world.”
Even with all our knowledge and experience, Emery’s prognosis remains uncertain. “We know this condition is progressive,” Courtney says. “We do not know if Emery will ever walk or talk. We do not know if we will have her in our world for months or years. Many children have passed as babies. Those who continue have a wide range of capabilities.”
Fine-tuning Emery’s diet
However, there’s one thing Courtney and her husband Kevin can be sure of: Their precious baby girl is in the very best of hands here with us.
Kevin explains how Emery is “unable to process sugars effectively into energy. Her body will create lactic acid instead. So a lot of her treatment is to fine-tune her diet to make sure that she’s still getting all the nutrition she needs without putting her into a metabolic crisis.”
Emery spent her first 10 weeks in the NICU while our metabolic specialists figured out the optimal formula for her diet.
Courtney describes the care Emery received during that time as “exceptional. The doctors were outstanding, the nurses were attentive and the collaborative daily rounds were the epitome of parental communication and collaboration.”
This devoted mom confides, “There were so many days where we didn’t think that Emery was ever going to leave the NICU. And I believe it to my core that it is truly the expertise and genuine care of the doctors and nurses at CHOC that allowed us to bring our daughter home.
“Even beyond that, just the continued outpatient support we’re receiving allows us to keep her home and give her the quality of life she deserves—at home rather than just living in a hospital bed.”
Research is key to her future
Emery has been coming back to CHOC once a week for checkups with our metabolic specialists.
Courtney stresses, “We cannot speak highly enough about the care Emery receives from the metabolics team. We are thankful that there is not only one specialist doctor, but an entire team. It is invaluable to have multiple brilliant minds bouncing off ideas.”
In fact, our lab has an active study on rare mitochondrial diseases, including Emery’s specific diagnosis. With the permission of her parents, Emery’s cells have been submitted to join this study.
To show their profound gratitude for their daughter’s care and to recognize the importance of research into her condition, Courtney and Kevin have started a Raise Up CHOC Foundation page in their daughter’s name. Funds from this effort go to our metabolic research lab. As Courtney puts it, “Research is Emery’s best chance at a future and we are all in. Our daughter’s life is at stake.”
Read more about Emery or donate to metabolic research at CHOC
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