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    Sharing Mayo Clinic: Genetic Testing Uncovers the Reason for Years of Mysterious Symptoms

SharonMills805When she was a teenager, Sharon Mills started having excruciating pain after eating. Medical tests found abnormalities with her liver but no reason for the irregularities or pain. She continued to experience the troubling symptoms for decades.

As an adult, Sharon moved to different parts of the country several times. With each move, she visited academic medical centers and underwent a wide variety of tests and procedures in hopes of uncovering a reason for her pain. No one could give her an answer, until she moved to Jacksonville, Florida. 

In Jacksonville, Sharon began receiving care at Mayo Clinic with Floyd Willis, M.D., a physician in the Department of Family Medicine. After listening to Sharon's anecdotes about her pain triggers, Dr. Willis enlisted the help of Paldeep Atwal, M.D., a colleague in the Division of Consultative and Diagnostic Medicine and one of the nation's few experts in metabolomics medical genetics.

Dr. Atwal recommended Sharon go through a process known as metabolomic profiling, a relatively new genomic diagnostic tool. That process finally gave Sharon the answer she had been searching for when it revealed that she has a genetic problem metabolizing certain fats.

According to Dr. Atwal, only a handful of cases like Sharon's have ever been described in the medical literature. Now he and Dr. Willis are creating a personalized medical plan for Sharon.

Learn more about Sharon's story in the video below.