Cystic fibrosis: why this disease is often misdiagnosed in people of color

Cystic fibrosis can affect anyone, of any race.

But still, many medical professionals incorrectly teach that cystic fibrosis is a white disease.

For decades, it was overlooked in people of color — like Terry Wright, who wasn’t diagnosed with cystic fibrosis until he was 51.

“People looked at him and said, ‘Oh, if you weren’t black, I thought you had cystic fibrosis,’” Bijal Trivedi of National Geographic told ABC owned television. “Now, this doctor is not using evidence-based medicine to diagnose that patient. That doctor would look at Terry’s face, Terry’s color, Terry’s race, and decide he didn’t have the disease.”

Trivedi explored this healthy disparity for New NatGeo Series “Mind, Body, Wonder”.

Cystic fibrosis is a genetic disease caused by a mutation in the CFTR gene. This gene is responsible for a protein that regulates chloride – a component of salt. If it doesn’t work properly, fluids in the body get stuck.

Trivedi reports that more than 2,500 different types of mutations on the CFTR gene can cause cystic fibrosis.

Ancestry plays a large role in the development of mutations, but in the United States, many tests only detect the mutation common to white people.

“In some states, in Mississippi for example, they only test for one mutation, and that is common in European populations,” Trivedi said. “They miss about 50% of African Americans with this disease. They miss over 50% of Asians with this disease.”

There are severe consequences for children who are not diagnosed early, including malnutrition and lung infections.

“When you ignore the evidence, and just stick with your bias, I think that’s an indication of systemic racism in medicine,” Trivedi said.

Learn more about cystic fibrosis in the United States and how we can reduce these health disparities in the future NatGeo.com/health.

ABC OTV and National Geographic will explore health and wellness through four lenses: longevity, women’s health, brain health, and diet and nutrition. Using the latest scientific research and information from experts in the medical field, we will answer questions about what is essential to the future of your health.

The Walt Disney Company is the parent company of National Geographic Partners and this ABC station.

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