Ella Gonzalez

VLCADD: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

Everything seemed perfectly normal when Ella Gonzalez was born. But at two weeks old, her mother, Krystal Herndon, got a completely unexpected phone call revealing the results of her newborn screening. “Her pediatrician called me and said to stop whatever I was feeding Ella and to call Children’s of Alabama immediately,” Krystal says. “I had no idea what was going on.”

The newborn screening had revealed Ella had a rare genetic disorder called VLCADD: very long-chain acyl-CoA dehydrogenase deficiency. Essentially, it occurs when an enzyme needed to break down a particular fatty acid is either missing or doesn’t work correctly. The disorder causes the body to not convert certain fats to energy, leading to low blood sugar, muscle weakness, and lack of energy. “We never heard of VLCADD before, so we had lots of questions because it required changing practically everything about what she could eat,” Krystal says. “But that was one of the greatest things about Children’s—even the smallest details they would go over with us as much as we needed to understand.”

The diagnosis required Ella’s diet to completely change. As she began eating solid foods, her family was required to strictly monitor her fat intake. “Children’s sent us home with a list of foods to eat or to avoid,” Krystal says. “We also had to start making sure she ate enough during the day to ensure her body has enough energy.”

Ella requires regular checkups as the amount of fatty foods her body can handle changes as she grows. She also has to visit Children’s for annual cardiology exams to make sure the VLCADD isn’t affecting her heart. “She looks and acts normal, but her body has a lot going on,” Krystal says. “Simple activities can completely drain her, and when that happens, we always end up at the hospital.”

When Ella typically has issues that require a visit to Children’s emergency room, she has to stay a few days to get fluids or even an antibiotic depending on how dehydrated her body may be. “Another wonderful part about Children’s is that her geneticist will notify the ER for us so that they can be prepared when we are on the way,” Krystal says. “That helps us out so much because it makes the experience a little easier and calmer for her.”

While VLCADD is a disorder that Ella will be forced to live with her entire life, Krystal is thankful for the help they receive at Children’s. “Everyone at Children’s is wonderful,” Krystal says. “No matter how small your question may seem, they take the time to answer and make sure you not only understand, but are comfortable. They truly respect you and how you feel and are always willing to do whatever they can to not only help Ella, but help our whole family.”