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fatigue. It inspired a
breakthrough.
Her dogged efforts lead to a new scientific
discovery that may help others with long covid
and other chronically fatiguing illnesses
Amanda Twinam and her daughter, Paige. Research on Twinam's fatigue may help shed light on long
covid and other conditions. (Ashley Brown)
:
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In 2015, after further testing, Twinam, now 44, was found to carry a
genetic cancer disorder, Li-Fraumeni syndrome. A second breast cancer
diagnosis shortly followed, and Twinam underwent another
mastectomy. But Twinam knew that something else was wrong.
As she moved into her 40s, she was having increasing trouble standing
and walking. The Albany, N.Y., lawyer scaled back to part-time work, as
she couldn’t keep up with her legal cases while raising a young daughter.
“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.”
She thought anxiety and drinking made her ill. The truth was scarier.
In people with this cancer syndrome, Hwang’s lab had found that
mitochondria produce too much energy, which cancer cells gobble up as
they metastasize. Twinam wondered whether her specific version of Li-
Fraumeni syndrome could lead to the opposite problem, too little
energy?
Hwang, who runs a laboratory at the National Heart, Lung and Blood
Institute, responded the next day. He wrote: “Yes, I agree with you, it is
possible that [your version of Li Fraumeni Syndrome] may be altering
metabolism and causing your fatigue symptoms.”
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Hwang was wrong — Twinam’s energy problems had nothing to do with
Li-Fraumeni syndrome. But it would take Hwang and colleagues years of
benchwork, including making genetically modified “Amanda mice,” to
understand this.
Hwang now had strong evidence that Twinam’s energy problems — both
at the cellular and the human level — were caused by something other
than Li-Fraumeni. But what?
The protein Twinam made too much of? It rudely jams up the
supercomplex. “It’s making this whole thing disassemble,” Hwang says.
“It’s literally falling apart.”
“It was done very elegantly,” says Mady Hornig, who also studies
ME/CFS as a physician-researcher at Columbia University’s Mailman
School of Public Health. “It’s not very common that we do all of these …
steps, having doctors who are really persistent about what is happening
with one individual and applying a scientific lens.”
As for Twinam, after decades of feeling ill with no diagnosis that ever
made sense, she believes her own story has finally been legitimized, and
in a major scientific journal at that.
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