Rare metabolic disorders in newborns
Watching Christopher Harry whack a baseball with a bright orange, plastic bat or hearing him pound a syncopated beat on a small drum, you'd never guess that the energetic 4-year-old has a rare metabolic disorder.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency may be too big a mouthful for Christopher to pronounce, but he knows what LCHAD means. It means his body is special. It means he can have only a few grams of fat a day. It means he needs to eat often, every two hours or so, to give his body enough energy to grow.
Christopher was the first baby born in Georgia to be identified with LCHAD deficiency through newborn screening soon after the disorder was added to the newborn screening panel in the state. His mother, Stephanie Harry, almost died when she developed a potentially fatal complication late in her pregnancy. The condition sometimes occurs when the mother is carrying a baby with a fatty acid oxidation disorder (FAOD). Doctors suspect that Stephanie's liver and kidneys may have been trying to compensate for what Christopher's body was unable to process.
Since then, Harry has steeped herself in learning about her son's disorder and how to keep him healthy. She now knows that LCHAD deficiency is a rare inherited FAOD in which the body is unable to break down certain fats to use for energy. She knows that it is so rare—both parents have to carry the recessive gene—and so little understood that many people don't recognize it, even clinicians, who may go an entire career without seeing a single case. She knows that babies who were previously thought to have died of SIDS or liver or kidney failure may actually have had LCHAD.
Harry also knows that when most people exercise or get sick, they use the long-chain fats stored in their body or found in most food for energy. But when Christopher gets sick, he is unable to use this fat for energy. When unable to consume food or medical formula, his body runs out of glucose and starts breaking down muscle, producing by-products that can be toxic. These toxic by-products can affect many systems in the body, in particular the kidneys and heart, leading to serious complications.
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