Sawyer Burch is a four-year-old boy from the Nashville, Tennessee area who was born with trifunctional protein deficiency, a rare disorder that takes the body’s ability to utilize certain types of fats. As most children with this disorder do not live past their first week of life, Sawyer’s parents are happy that they’ve gotten this much time with him. To fight for more time with their son, they want to get him a medicinal oil that has shown positive results in clinical trials.
Sawyer’s Story
Sawyer’s parents describe him as a superhero. For his whole life, he has been battling symptoms and intense treatments, so they’ve found a way to make them more bearable. They tell Sawyer that he’s a superhero with special powers, and that’s why he has to go to Vanderbilt University Medical Center and get tests so often. His physical therapy has become his muscle classes and his leg braces are now “superhero boot makers.”
While this has made doctors appointments and treatment a little easier, Sawyer still faces many complications because of trifunctional protein deficiency. A simple sinus infection could lead to metabolic crisis and kidney failure.
Now the Burches are fighting to raise the money for a new treatment for Sawyer. C-7 Oil is being utilized in clinical trials with positive results, and it is the only FDA-approved treatment. The problem? It costs $150,000, and the price isn’t covered by their insurance. To help them pay for Sawyer’s treatment, you can donate here.
About Trifunctional Protein Deficiency
Trifunctional protein (TFP) deficiency is a fatty acid oxidation disorder that is characterized by abnormally low levels of trifunctional protein. This leads to an inability to use certain fats, which then results in episodes of metabolic crisis. These episodes cause symptoms like vomiting, fever, behavioral changes, poor appetite, lethargy, metabolic acidosis, hypotonia, and hyperglycemia. Triggers like physical stress, fasting, illness or infection, and exercising for long periods bring on these episodes. Additional symptoms include hepatomegaly, cardiomyopathy, and rhabdomyolysis. It is integral to seek treatment for this condition, as possible complications include coma, seizures, respiratory issues, and death.
This condition is the result of a mutated HADHA or HADHB gene, both of which cause a defiency of trifunctional protein. When this happens, the body cannot process and metabolize long chain fatty acids, which then leads to the metabolic crises that characterize this condition. Both genes are inherited in an autosomal recessive pattern, meaning both parents must pass it down. In terms of treatment, it lasts a lifetime. For the best outcome, treatment should begin as soon as a child is born. A diet that is high in carbs and low in long chain fatty acids is recommended, and medium chain triglyceride is often added to this diet. In addition, a doctor may suggest L-carnitine supplementation. Lastly, medical care may be necessary during an episode, and affected individuals should never fast.
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