Faces of VLCAD: Stories of Strength, Resilience, and Hope
Every VLCAD journey is unique.
Some children experience mild symptoms. Others face frequent hospitalizations, ongoing medical complications, and significant daily challenges. Yet across every story, there is a common thread: resilience.
These children are more than their diagnosis. They are explorers, athletes, siblings, students, dreamers, and advocates. They remind us that while VLCAD deficiency may be rare, the strength of this community is extraordinary.
On July 17, VLCAD Deficiency Awareness Day, we invite you to learn more, share these stories, and help support awareness, advocacy, and research that can improve the lives of families living with VLCAD and other long-chain fatty acid oxidation disorders.
Together, we can be the spark that fuels hope for the future.
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Ezra is a wildly energetic little guy who never slows down.
He was diagnosed with VLCAD deficiency during his first metabolic crisis at just 20 hours old thanks to an incredible team of metabolic specialists at McMaster Children's Hospital in Ontario, Canada.
From the very beginning, Ezra's journey has been filled with challenges.
To help meet his nutritional needs, he has relied on g-tube feedings since birth. Like many children living with VLCAD deficiency, Ezra experiences episodes of rhabdomyolysis. However, for Ezra, these episodes can last for extended periods of time and require intensive medical intervention.
In just 16 months, Ezra spent more than 150 days hospitalized. He now has a central line for IV access as part of his ongoing care.
Today, daily life revolves around careful monitoring and prevention. Ezra cannot safely sleep through the night without receiving nutrition. Continuous overnight g-tube feeds, medications, and constant monitoring have become part of his family's routine. Even a brief interruption in feeding can create serious concerns.
In addition to VLCAD deficiency, Ezra faces complications involving his liver and heart. His medical team monitors him closely, including weekly bloodwork to track creatine kinase (CK) levels because he has not yet been stable enough to go more than seven days between checks.
Despite these challenges, Ezra continues to show incredible strength and determination. His family remains hopeful that with age, improved treatments, and future clinical trials, he will become more medically stable and experience a greater quality of life.
For families like Ezra's, research is more than science—it is hope. It represents the possibility of fewer hospitalizations, improved disease management, and a brighter future for children living with VLCAD deficiency.
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Five days after our daughter Isla was born, a routine newborn screening revealed elevated markers for VLCAD, a rare metabolic disorder that affects the body’s ability to use certain fats for energy. Like many parents receiving an unexpected diagnosis, we were overwhelmed with fear, uncertainty, and questions about what the future might hold.
At just seven days old, Isla began care with the Metabolic Genetic team at Nationwide Children’s Hospital. While the diagnosis brought many unknowns, our medical team provided guidance, expertise, and hope. Since then, Isla has followed a strict low-fat diet and treatment plan designed to meet her unique energy needs.
Living with VLCAD requires constant vigilance, but today Isla is thriving. Despite more than 40 blood draws, constant monitoring, and a week long hospital stay, her heart and liver functions remain healthy, and she lives the active, joyful childhood we once worried might not be possible. At 3½ years old, she is energetic, determined, and full of life.
A VLCAD diagnosis can bring fear and uncertainty, but it also revealed incredible resilience and the strength of a supportive community. Thanks to Ohio’s Newborn Screening Program, the dedicated team at Nationwide Children’s, and connections with other metabolic families, what began as one of the most difficult moments of our lives has become a journey filled with hope.
VLCAD is part of Isla’s story, and she continues to grow, thrive, and inspire us and others every day.
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Maddie was diagnosed with VLCAD deficiency through newborn screening when she was just 7 days old. What began as a routine phone call quickly turned our world upside down. After additional testing, her diagnosis was confirmed through genetic testing at 3 months old.
Like many rare disease families, we found ourselves learning an entirely new language overnight. We became students of metabolic disorders, researchers, advocates, and caregivers while trying to navigate the fear that comes with knowing your child is at risk for serious complications. Every illness, every fever, and every stomach bug carried a level of uncertainty most families never have to think about.
Since birth, Maddie has been hospitalized more than 20 times due to complications related to VLCAD deficiency, including multiple episodes of rhabdomyolysis. Her journey has involved countless blood draws, IVs, emergency room visits, and hospital stays. Yet through every challenge, she continues to amaze us with her resilience, determination, and ability to keep moving forward.
What makes Maddie truly special is the light she brings to everyone around her. She is the kind of child who fills a room with energy, makes people smile, and finds joy even in difficult moments. She has earned the nickname "The Spark" because of the way she inspires others with her positivity, strength, and endless spirit.
Today, Maddie continues to safely push boundaries and embrace the adventures of childhood. She loves playing outside, swimming, riding her bike, practicing karate, and exploring new places. This year alone, she has enjoyed family adventures to Oglebay, WV, Pigeon Forge, TN, and Niagara Falls, NY.
While VLCAD remains part of her daily life, it does not define who she is.
This fall, Maddie will begin kindergarten, and we couldn't be more excited to watch her continue to grow, learn, and share her spark with the world. Her journey reminds us every day why research, awareness, and advocacy matter, and why we continue to fight for a brighter future for every child living with VLCAD deficiency.
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Violet is the eldest child, born in 2018 during what was, frankly, one of the most difficult years of our lives. Violet's father and I had each lost a parent that year—his mother before we could share that we were expecting, and my mother just three weeks before Violet was born.
After a textbook pregnancy and complication-free delivery, Violet arrived as a healthy 7-pound, 6-ounce baby with big blue eyes. To say she was a light in the darkness would be an understatement.
When Violet was four days old, we attended her newborn pediatrician appointment. It was there we learned she had been flagged through newborn screening for a fatty acid oxidation disorder called VLCAD deficiency. We were immediately sent for additional testing at Cincinnati Children's Hospital.
Because VLCAD deficiency is so rare, even her incredible pediatrician had never encountered the condition before. One of the greatest blessings in our journey has been access to Cincinnati Children's and a pediatrician who immediately stepped into a support role, educated herself, and partnered closely with our metabolic team.
Very quickly, Violet's diagnosis was confirmed. We were told she carried two extremely rare mutations—so rare that only one other person had ever been documented with the same combination. Even the genetics specialists could not predict how severe her condition would be.
Like many rare disease parents, we found ourselves becoming students, researchers, advocates, and caregivers almost overnight.
Despite the fear that accompanied every illness, every stomach bug, every emergency room visit, and every echocardiogram, Violet has continued to thrive.
Today, Violet is 7 years old and preparing to enter second grade. She keeps up with her peers, loves being active outdoors, and has even traveled internationally. She has become an advocate for her own health and confidently communicates her needs. She is also a proud big sister to Levi and Oliver.
While managing medications, appointments, illnesses, and daily precautions has become part of life, we have been fortunate in many ways. Violet has only required one hospital admission and has handled physical activity and illness remarkably well. Her diagnosis has since been reclassified as mild.
We still monitor every fever, every cough, and every sign that something could be wrong, but we are incredibly proud of our brave girl. She has brought immeasurable joy to our lives, and we cannot wait to see where her journey takes her next.
