Medical doctor hospital11/24/2023 Patients also experience progressive bone marrow failure requiring blood transfusions. Vasculitis can be one of the first signs of the disease, which is also characterized by skin rashes and unexplained fevers. Doctors don’t know what causes the mutation.īecause men have only one X chromosome, they are far more likely than women to develop VEXAS, which rarely occurs before age 50. VEXAS, an acronym based on the clinical characteristics of the disease, is caused by a genetic mutation of the UBA1 gene located on the X chromosome the genetic defect is acquired, not inherited, and therefore cannot be transmitted to offspring. “We think this is a disease hiding in plain sight.” - Peter Grayson, National Institutes of Health Pherson was anemic and his white blood cell count was elevated, sometimes shooting to 10 times above normal, a condition known as hypereosinophilia. Increasingly, blood tests indicated something serious was wrong. At times doctors struggled to determine whether a symptom reflected a reaction to a drug Pherson was taking or a sign of an unidentified disease. Later it would morph into painful red spots the size of half-dollar coins that erupted all over his body and sometimes persisted for weeks.īy 2021 Pherson was beset by new symptoms: periodic fevers of 101 to 102 degrees late in the day, accompanied by chills along with episodic pain in various joints - a foot, wrist or shoulder - that lasted a few days. For years the rash recurred periodically but only on his legs. Two weeks after bypass surgery, Pherson developed an intensely itchy rash on his lower legs that lasted a few days, then disappeared. I said, ‘They have a hospital in Iceland, let’s go.’ ” - Randolph H. Doctors near his Northern Virginia home and at NIH help him manage his complicated, unpredictable illness. Pherson, now 74, continues to travel overseas frequently as a national security consultant. “Going to Iceland saved my life,” Pherson said of the trip he nearly canceled at the last minute. Pherson suspects he might still be searching for answers had he not been under the care of a team whose comprehensive work-up, collaborative approach and connection to an expert at the National Institutes of Health led to a definitive diagnosis in February 2022. It wasn’t until September 2021 when Pherson became critically ill and wound up in a Reykjavik hospital while on vacation that a serendipitous convergence of events led to the identity of the unusual malady that had plagued him for years. He spent the next seven years consulting multiple specialists who ruled out 50 diseases but were unable to make a diagnosis. Two weeks after his 2014 heart operation Pherson developed the first of a baffling constellation of symptoms that included painful skin rashes, spiking fevers and abnormal blood counts. In his own life, however, Pherson’s efforts have met with mixed success.
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