By the time Rena Barrow-Wells gave birth to her fourth baby in 2020, she already knew how to care for a child with cystic fibrosis. She also had experience fighting to get a diagnosis on the disease, which is hereditary and can seriously damage the lungs and digestive system.
Nineteen years earlier, her first son, Jarrod, had the classic symptoms of cystic fibrosis as a newborn: inability to gain weight; a stubborn and phlegmatic cough; and frequent, fatty stools. But instead of identifying the cause of her son’s illness, doctors in the New Orleans emergency room where she took Jarrod blamed his poor growth on his mother, who is black and a teenager at the time. Ms Barrow-Wells said doctors accused her of starving her son, placed them both in a room under video surveillance and reported her to child protective services.
Doctors released Jarrod two weeks later without a diagnosis. It would take four years – and dozens of additional visits to doctors and emergency rooms – for Jarrod to be diagnosed with cystic fibrosis. By then, she said, the disease had interfered with his body’s ability to absorb nutrients for so long that he was profoundly malnourished. Children diagnosed after 2 months of age are also at greater risk of serious lung problems and death.
People from minority communities have struggled for decades to receive lifesaving care for cystic fibrosis, largely because many doctors were traditionally taught that the disease almost exclusively affected white people, said Dr. Jennifer Taylor-Cousar, professor of medicine and pediatrics at the University of Toronto. University of Colorado Anschutz Medical Campus. Several factors have fueled this misconception, she said, including limited testing and scientific research that focused on white patients and failed to identify the entire affected populations, as well as bias against patients of color, some of whom were blamed for their symptoms. as happened with Mrs. Barrow-Wells and Jarrod.
Yet Ms Barrow-Wells had reason to hope that in 2020 things would be easier for her newborn son, Jahsir. The way cystic fibrosis was diagnosed had changed dramatically since Jarrod was born. Since 2010, all states have screened newborns for the disease, an effort that promises to help all babies with cystic fibrosis receive a diagnosis and treatment in the first critical weeks of life, before the disease does not cause serious organic damage.
A newborn screening should have quickly confirmed what Ms. Barrow-Wells quickly recognized: that Jahsir’s salty skin and foul-smelling diapers were signs that he, too, had cystic fibrosis.
But her baby’s screening came back negative. Ms. Barrow-Wells, who now lives in Lawrenceville, Ga., begged doctors to test her baby’s sweat to see if it contained the high levels of salt characteristic of the disease. She reminded them that her eldest son’s diagnosis meant the baby was at high risk.
But Jahsir’s pediatrician pointed to the negative test result as proof that her son was fine, she said, and told her to stop worrying.
Experts say universal testing has given some doctors a false sense of security: While early detection has undoubtedly transformed disease diagnosis, state screening programs still overlook children with cystic fibrosis, especially those who are not white.
Jahsir was diagnosed with cystic fibrosis at 3 months old. “A person shouldn’t have to endure this much,” Ms Barrow-Wells said.
A new genomic era, but persistent disparities
Cystic fibrosis is a progressive disease caused by defects in a single gene. This makes the mucus that coats the inside of the body thick and sticky. Instead of protecting the airways, digestive tract, and other organs and tissues, mucus in people with cystic fibrosis causes blockages, damage, and infections.
Nearly 40,000 Americans have cystic fibrosis, about 15 percent of whom are people of color, according to data from a Cystic Fibrosis Foundation patient registry.
The disease occurs when people inherit two faulty copies of the gene, called CFTR – one from the mother and one from the father. People who inherit a single defective copy do not develop the disease but can pass on the mutation.
Only a few decades ago, people with cystic fibrosis often died during childhood or adolescence. Scientific advances and public health initiatives, including newborn screening, have transformed the prognosis and quality of life of those affected. Half of babies born with cystic fibrosis in 2021 can expect to live to 65 or more, according to CFF
Universal screening has helped doctors diagnose babies an average of three months earlier, said Dr. Clement Ren, director of the Cystic Fibrosis Center at Children’s Hospital of Philadelphia. It also provided a clearer picture of who actually has CF: the share of newly diagnosed patients who are Black or Hispanic increased from 9 percent in 2000 to 14 percent in 2020. (This includes newborns as well than people who did not receive a diagnosis until later in life.)
Dr. Ren said he recently diagnosed a Hispanic baby born in New Jersey who came to his hospital in Philadelphia, the closest cystic fibrosis center. “She was two weeks old,” Dr. Ren said. “That’s the goal: to diagnose babies in the first month of life.”
The screening process begins before newborns leave the hospital, with a blood test to detect a protein typically elevated in babies with cystic fibrosis. If a sample shows high levels, the newborn is then tested for genetic mutations. Scientists have identified hundreds of mutations that may cause the disease.
But the genetic tests currently used are largely based on older clinical trials involving mostly white children, focusing primarily on genetic mutations found in people of European ancestry, said Dr. Meghan McGarry, a pediatric pulmonologist at the Seattle Children’s Hospital. As a result, they may miss babies with less common mutations originating in Africa, Asia and Latin America.
Some states seek more transfers than others. Wisconsin’s screening program is so robust — it tests for 689 mutations — that Montana, Kansas and Connecticut now send their newborn samples to the state.
New Jersey, which for years tested for only one mutation, now tests for 139; Pennsylvania and Florida have also expanded their screenings.
But in Mississippi, where nearly 38% of the population in 2020 was Black, newborns are still only tested for a single genetic variant found primarily in white people.
For many states, the biggest barrier is cost. The more mutations included in a screening panel, the greater the expense, said Dr. Rachel Linnemann, director of Children’s Healthcare of Atlanta and the Emory University Cystic Fibrosis Care Center.
In Georgia, where Ms. Barrow-Wells lives, the cystic fibrosis screening program tests for only 39 variants. She is working with state officials to increase that number. Although Jahsir, now 3, receives therapy to protect his lungs and improve his nutrition, his eldest son has significant scarring to his lungs and pancreas. Five years ago, he had to undergo emergency surgery for a collapsed lung caused by years of damage. Barrow-Wells said she felt lucky that Jarrod, now 23, was able to take a new type of cystic fibrosis drug that extends the lives of many patients.
Screening gaps
Even states with robust screening programs can miss babies with rare genetic mutations. Cambrey Vasconez White, 34, sought genetic testing while she was pregnant. Her husband had a cousin with cystic fibrosis, meaning he could carry one of the genetic mutations that causes the disease. Ms. White, who is Hispanic, wanted to know if she did it too.
In California, where Ms. White lives, the screening program tests for 75 mutations, including those found more frequently in Hispanics. Ms. White’s test came back negative, as did the newborn screening for her son, Rowland, born in 2021.
Ms. White didn’t believe the result: Rowland screamed and cried after breastfeeding, a common symptom of cystic fibrosis, which interferes with digestion and can cause stomach pain. Rowland also failed to gain weight. When he began to fall off his growth curve, Ms. White said, she insisted that more tests be done.
Some pediatricians are reluctant to order additional tests for babies who test negative, even if they have signs of the disease, Dr. McGarry said, because they do not realize that screening tests may be inaccurate or that non-white babies can inherit the disease.
“Parents are told, ‘Your child had a normal newborn screening.’ You are crazy.’ This becomes an obstacle to care. It’s the opposite of what it should be,” she said.
Doctors eventually agreed to further testing, and Rowland was diagnosed with cystic fibrosis at 6 months old. Rowland and both of her parents had rare mutations not included in the California panel.
Rowland’s experience highlights why doctors can’t rely on screening alone, said Dr. Susanna McColley, a pediatric professor of pulmonary and sleep medicine at Northwestern University’s Feinberg School of Medicine. She said children who have symptoms or a sibling with the disease should be referred to a cystic fibrosis center for a definitive diagnostic test, called a sweat test, regardless of their screening results.
Before universal screening, doctors “performed a lot more sweat tests in children with poor growth, recurrent respiratory symptoms, or both,” Dr. McColley said.
To better educate doctors and patients, the Cystic Fibrosis Foundation plans to release new screening guidelines this fall that promote racial equity. And the foundation and the Centers for Disease Control and Prevention are funding efforts to improve screening — work that Dr. McGarry says is sorely needed for families like Ms. Barrow’s.
“It sometimes takes a lot of perseverance, determination and knowledge on the part of the person with cystic fibrosis or their parent to get this diagnosis,” said Dr. McGarry. “Not every family has that.”