It took years for my Black son to be diagnosed with cystic fibrosis. Then it happened to my family again

Twenty years ago, cystic fibrosis wasn’t a household term for me. Today, cystic fibrosis — a genetic disorder that causes a buildup of thick, sticky mucus that can damage organs, especially the lungs — has become a centerpiece of my family’s lives, sending me on an advocacy mission to improve diagnosis and care for all families, regardless of their racial or ethnic background.

When we began building our family, my husband and I were unaware that we carried genes that can cause cystic fibrosis. Our 20-year journey, spanning the birth of four children and two CF diagnoses, exposes a health care system ill-equipped to recognize and treat cystic fibrosis in non-white patients. But it also provides lessons for health care providers, policymakers, and fellow parents to work toward health equity in CF diagnosis and care.

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When our eldest child, Jarrod, was born in 2001, the state where he was born did not include cystic fibrosis on their newborn screening panel. Signs he had the condition began early, about one month after birth. He had a healthy appetite but suffered frequent bowel movements and was failing to thrive. I followed doctor orders and did everything in my power to nourish him, but my son did not gain weight, making me feel guilty and confused.

One visit to the emergency room resulted in social services’ involvement over accusations that I, a young African American mother, was neglecting my son. After a three-week hospitalization with numerous tests, Jarrod was discharged with a diagnosis of infection with an “unknown virus.” He left the hospital severely malnourished, while my husband and I were distraught and heartbroken.

While cystic fibrosis is typically diagnosed two to four weeks after birth, it took four years for Jarrod. Upon receiving the diagnosis, we were first shocked, then relieved — we finally had a medical explanation for Jarrod’s struggles. At the time, the average lifespan for someone with cystic fibrosis was 32, a stark reminder of the urgency for optimal care. (The median expected age of survival for people born with cystic fibrosis today is about 60 years.)

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Fifteen years later, in 2020, we were expecting our fourth child, Jahsir. This time, we felt more prepared for a potential CF diagnosis. We openly discussed that possibility — a 1 in 4 chance — and consulted a geneticist alongside our obstetrician. CF newborn screening was now available in all 50 U.S. states. We notified the delivering hospital; they assured us the pediatrician would receive the newborn screening results within weeks. Jahsir’s test came back negative, but soon I suspected he also had cystic fibrosis.

Because of certain genetic mutations that affect the body’s normal flow of chloride, people with cystic fibrosis have very salty skin and sweat. Knowing this, we licked our baby all the time. We had everyone licking him. Every time, the resulting taste was salty. I expressed my unease to the pediatrician, relaying my gut feeling that our newborn had cystic fibrosis. Despite knowing we had another child with cystic fibrosis, the pediatrician shrugged off our concerns of saltiness and made excuses for our infant’s poor weight gain. He reiterated the negative newborn screen and labeled me paranoid.

There I was a second time, in the same frustrating situation 20 years later, in spite of the advancements in CF diagnosis and treatment.

Cystic fibrosis is one of the most common autosomal recessive conditions, next to sickle cell anemia. The condition occurs when an individual inherits CFTR genes with certain variants from each parent. Those who inherit a CFTR variant from only one parent are known as CF carriers. Early diagnosis of cystic fibrosis, typically within the first few weeks of life, can dramatically impact the quality of life and life expectancy by rapidly improving nutritional support, bolstering lung function, and delaying lung infections.

Newborn screening is a vital tool for early CF detection, but it’s not infallible. The genetic complexity of CF contributes significantly to these diagnostic challenges. More than 2,000 variants of the CFTR gene have been identified, including 719 CF-causing variants. Most people with cystic fibrosis in the U.S. have at least one copy of the most common CFTR variant, F508del. However, minoritized ethnic and racial populations are more likely than non-Hispanic white people to carry variants other than F508del that are often considered rare or unclassified. Approximately 10% of people with cystic fibrosis in the U.S. are diagnosed after a false-negative newborn screening result. Infants with non-white ancestry like Jahsir are disproportionately more likely to experience these false negatives.

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Most U.S. newborn screening protocols test only for the most common CF mutations, overlooking variants more prevalent in non-white infants. This may lead to false-negative results, creating racial and ethnic disparities in diagnosis and early treatment. For instance, at the time of Jahsir’s birth, the state where we lived did not test for mutations common among Black/African Americans, who make up one-third of the state’s population.

The misconception that cystic fibrosis is a “white disease” exacerbates these issues. Delays in CF diagnoses after a false-negative newborn screening often are related to health care providers’ incorrect perceptions that cystic fibrosis affects only white people. These racial and ethnic biases in providers’ beliefs and the tests themselves can lead to harmful setbacks in every phase of the CF care pipeline, from newborn screening to clinical practice, that have real and devastating consequences for patients and their families. Non-white babies and their caregivers bear the brunt of these failures, often facing delayed diagnoses and treatment that can result in poorer health outcomes and exacerbate long-standing racial disparities.

Even with a family history of cystic fibrosis and clear symptoms, we were met with dismissiveness and pushback from health care providers who were overly reliant on the negative screening results. This dismissal is not only frustrating — it can have serious consequences for children’s health and development.

Despite my persistence in finding answers for my sick son, it took countless hours on the phone and at doctors’ offices over several long, agonizing months before I was able to convince our provider to conduct the confirmatory testing. That definitive diagnostic tool for cystic fibrosis, called a sweat test, measures the amount of chloride in sweat. The result gave us the answer we already suspected but desperately sought. 

Watching my children suffer through unnecessary delays in access to proper treatment was heart-wrenching. The physical, mental, and emotional tolls still linger for us all, leaving a mark that fuels my determination to advocate for change.

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Families deserve better than what we experienced. The road to a CF diagnosis should be a collaborative process characterized by cooperation and mutual respect between health care providers and families and a shared commitment to children’s well-being. To achieve this, the health care system must change in important ways:

  1. Health care providers must recognize that cystic fibrosis can occur in individuals of any racial or ethnic background and dispel the misconception that it is a “white disease.” 
  2. Providers should consider a range of factors beyond newborn screening results when assessing for cystic fibrosis, especially in non-white populations and families with a history of cystic fibrosis. 
  3. Medical schools and other health care education programs should offer targeted training for future providers to better recognize and diagnose cystic fibrosis in all populations. 
  4. Public health systems should prioritize health equity by optimizing newborn screening for cystic fibrosis based on states’ racial and ethnic composition. These investments would significantly reduce the long-term medical expenses, emotional pain, and loss of quality life resulting from delayed CF diagnoses and undoubtedly move toward equity in care by reducing the disproportionate racial and ethnic disparities that currently exist.

Today, Jarrod is doing well with cystic fibrosis. He has worked through the worst of his illness so far to date, with his last hospitalization and lung surgery being fall 2021. In addition to working, he helps a great deal with his brother, transporting him to school in the mornings.

Jahsir is doing well within his limitations. He is also autistic and has avoidant/restrictive food intake disorder. While he does not speak much, he can, and he also likes to sing, especially the McDonald’s commercial song.  His teacher states he is such a helper and every morning he sets the calendar for the day.

Jarrod wanted to see himself represented in the largely white CF community for so long, and we never really got that opportunity when he was Jahsir’s age. Through our family’s foundation, Jahsir has become the representation that Jarrod longed for, a true bittersweet moment.

In addition to being a working mother, Rena Barrow runs Two Salty Okes Foundation to raise awareness of cystic fibrosis and advocates for justice and racial equity in CF care. This article was written with the help of Alyson Browett, M.P.H., a senior editor at the Johns Hopkins Center for Health Security. This collaboration was made possible by the Voices in Print project at the Johns Hopkins Center for Health Security, with support from the Initiative for Humanizing Medicine.