She wrote to a scientist about her fatigue. It inspired a breakthrough.

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Her dogged efforts lead to a new scientific discovery that may help many others with chronically fatiguing illnesses, including long covid.

That doctor found a marker for autoimmune diseases in Twinam’s blood. And yet, none of the proposed diagnoses fully fit. “Fatigue was my primary complaint, sometimes my only complaint,” says Twinam, who’d had a bout of suspected mononucleosis in high school that left her exhausted for months. “But no one knew what to do.”

“We’re very excited about trying” drugs to treat the problem identified in Twinam, said Paul Hwang, an NIH researcher who led the work.The red flags that Twinam had an unrecognized chronic illness began after her suspected case of mono in high school. She says she feels she never fully recovered. One big tell: In college, after exercising, Twinam would not experience an endorphin rush. Instead, she told her friends she “felt like garbage.

Twinam began a message to Hwang that proved pivotal: “I read with interest your recent article on inhibiting mitochondrial respiration in a mouse model of Li-Fraumeni Syndrome.” Hwang brought Twinam to Bethesda in 2017. During a battery of tests, a curious result popped up. Twinam’s calf muscle took a long time to replenish an energy-carrying molecule after a short exercise session. In other patients with Li-Fraumeni syndrome, this molecule regenerates in an average of 35 seconds. In Twinam, it took 80 seconds.Puzzled, Hwang flew Twinam’s brother and father to Maryland, as they both also carried a gene for Li-Fraumeni.


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