Cystic fibrosis often goes under-diagnosed—unless you’re white

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Cystic fibrosis often goes under-diagnosed—unless you’re white
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Anyone, of any ethnicity, can get cystic fibrosis. But for decades it has been overlooked in people of color

test for CF. The first part tests for high levels of a chemical called immunoreactive trypsinogen—which is a chemical made by the pancreas. If levels are too high, the baby’s DNA is screened for mutations that could cause cystic fibrosis. When a mutation is identified, early interventions that improve nutrition and lung health can save lives. In Mississippi

In 2018, after Bobba and her husband had been trying to conceive for a couple of years, she had a genetic test done as a standard part of an in vitro fertilization procedure. The tests revealed her ovaries were healthy and her husband’s sperm count was good. But the doctor who authorized the tests called her and asked, “Did you know you have cystic fibrosis?”

The drug Trikafta had been approved in 2019 for patients who carried the F508del mutation—the one that is most common in the U.S., not the one Bobba has. But the drug maker Vertex Pharmaceuticals kept testing the drug on cells with less common mutations, one by one, to see whether it would work for those. Food and Drug Administration said the drug could also treat Bobba’s rare mutation

When he asks how common that mutation is in white people, only a few are aware that one in every 25 Caucasians carry it. But when Trimble asks about non-whites, “Nobody has any idea.” But without access to digestive enzymes to help children with nutrition and treatments to clear their lungs, survival for CF patients is about eight years in Egypt; in the U.S., it’s now 53.

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