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The 8th Annual UCSD Christini Fund Golf Tournament was dedicated to the memory of Ben and Beau Westman, whose courageous battle with mitochondrial disease led researchers to the cause of Alpers Syndrome, a fatal genetic disease that had baffled doctors for over 60 years. This recent discovery and the impact that prenatal testing will make on the lives of future families affected by mitochondrial disease are the boys’ legacy.

Beau Westman was a cheerful 1 ½-year-old toddler in 1993 when the first hints appeared that something was not right. He developed a fever and he began to stumble. His parents were fearful but hopeful that this would pass. They were fearful because Beau’s brother Ben had died of a mysterious disease five years earlier in 1988. The doctors never knew what caused Ben’s disease.  When Beau started having seizures at 2 ½ years of age, their worst fears were confirmed. Beau had the same terrifying disease that his brother had years before. Beau’s liver began failing just two months after his 3^rd birthday. He became blind, lapsed into a coma, and died at 3 ½ years of age. His parents, Denise and Jamie Westman, were devastated and desperately wanted to know what took the lives of their boys.

Near the end of Beau’s life, the Westman’s had met Dr. Robert Naviaux at UCSD’s Mitochondrial and Metabolic Disease Center (MMDC). The Westman’s credit the MMDC with helping to prolong Beau’s life. But after Beau passed, the Westman’s were still seeking answers, so they agreed to have samples of Beau’s frozen tissue examined using a new test developed by Dr. Naviaux. It was then that Dr. Naviaux discovered a missing mitochondrial protein in Beau’s cells. After pouring over all of Beau’s medical records, he was convinced that both Beau and Ben had succumbed to a rare metabolic disease called Alpers syndrome. At that time, the cause of Alpers syndrome had remained a mystery for over 60 years. It was first described by Bernard Alpers in 1931as a fatal genetic disease, but little else was known. There is still no cure for the disease, but knowing the cause is the first step toward discovering new treatments. With the help of Ben and Beau Westman, the discoveries made by Dr. Naviaux and his team at the MMDC are milestones in the history of medicine that are helping to create a better life for children and families everywhere who are touched by mitochondrial disease.