Managing FAOD Together: Michelle and Jake’s Story

Описание к видео Managing FAOD Together: Michelle and Jake’s Story

About a week after her son, Jake, was born, doctors told Michelle that he had long-chain L-3 hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, a long-chain fatty acid oxidation disorder. The doctors explained that he would survive a few years at most if they were lucky. Fortunately, with the help of a metabolic specialist and a dietitian, Michelle learned that through diet, frequent feeding, and a close watch, she and Jake could manage the disease together and move forward. Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare conditions that impair the body’s metabolism from breaking down certain fats from food into energy. Other LC-FAODs include Carnitine palmitoyltransferase (CPT I or CPT II) deficiency, long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency, and trifunctional protein (TFP) deficiency.

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