Twenty years ago, cystic fibrosis was not a familiar term to me. Today, cystic fibrosis – a genetic disease that causes a buildup of thick, sticky mucus that can damage organs, particularly the lungs – has become a centerpiece of my family’s life, sending me on an advocacy mission to to improve diagnosis and care for all families. regardless of their racial or ethnic origin.

When we started our family, my husband and I didn’t know that we carried genes that could cause cystic fibrosis. Our 20-year journey, spanning the births of four children and two CF diagnoses, reveals a healthcare system ill-equipped to recognize and treat cystic fibrosis in non-white patients. But it also provides lessons for health care providers, policymakers, and other parents to work toward health equity in CF diagnosis and care.

When our oldest, Jarrod, was born in 2001, the state where he was born did not include cystic fibrosis in its newborn screening panel. Signs of the disease began early, about a month after birth. He had a good appetite but suffered from frequent bowel movements and was unable to thrive. I followed the doctor’s orders and did everything in my power to feed him, but my son didn’t gain weight, which made me feel guilty and confused.

A visit to the emergency room resulted in social services intervention following accusations that I, a young African American mother, was neglecting my son. After a three-week hospitalization with numerous tests, Jarrod was released 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 usually diagnosed two to four weeks after birth, it took four years for Jarrod. After receiving the diagnosis, we were first shocked, then relieved: we finally had a medical explanation for Jarrod’s difficulties. At the time, the average life expectancy of a person with cystic fibrosis was 32 years, a stark reminder of the urgency of optimal care. (THE expected median age of survival for people born with cystic fibrosis, today it’s around 60.)

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

Due to certain genetic mutations that affect the normal flow of chloride in the body, people with cystic fibrosis have very salty skin and sweat. Knowing this, we licked our baby all the time. We asked everyone to lick it. Each time, the resulting taste was salty. I expressed my discomfort to the pediatrician, telling him of my intuition that our newborn had cystic fibrosis. Even though he knew we had another child with cystic fibrosis, the pediatrician ignored our concerns about salinity and made excuses for our baby’s poor weight gain. He reiterated the negative newborn screening result and called me paranoid.

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

Cystic fibrosis is one of the most common autosomal recessive disorders, after sickle cell anemia. The condition occurs when an individual inherits CFTR genes with some variations from each parent. Those who inherit a CFTR variant from only one parent are called CF carriers. Early diagnosis of cystic fibrosis, usually within the first weeks of life, can have a significant impact on the quality and expectancy of life. improve nutritional support, strengthen lung function and delay lung infections.

Newborn screening is an essential tool for early detection of CF, but it is not infallible. The genetic complexity of cystic fibrosis contributes significantly to these diagnostic challenges. More than 2,000 variants of the CFTR gene have been identified, including 719 variants responsible for CF. In the United States, most people with cystic fibrosis have at least one copy of the most common CFTR variantF508del. However, ethnic and racial minority populations are more likely than non-Hispanic whites to carry variants other than F508del that are often considered rare or unclassified. Approximately 10% of people with cystic fibrosis in the United States are diagnosed after a false-negative newborn screening result. Infants of non-white ancestry like Jahsir are disproportionately more likely experience these false negatives.

Most newborn screening protocols in the United States test only for the most common CF mutations, ignoring variants more common in non-white infants. This can lead to false negative results, creating racial and ethnic disparities in diagnosis And early treatment. For example, at the time of Jahsir’s birth, the state we lived in had not tested for mutations common in Black/African Americans, who make up a third of the state’s population.

The misconception that cystic fibrosis is a “white disease” exacerbates these problems. Delays in cystic fibrosis diagnoses after false-negative newborn screening are often linked to health care providers’ misperceptions that cystic fibrosis only affects white people. These racial and ethnic biases in providers’ beliefs and in the tests themselves can lead to harmful setbacks at every phase of the CF care process, from newborn screening to clinical practice, with real and devastating consequences for patients. and their families. Non-white babies and their caregivers are most affected by these failures, often facing delayed diagnoses and treatments that can lead to poorer health outcomes and exacerbate long-standing racial disparities.

Even with a family history of cystic fibrosis and obvious symptoms, we were met with disdain and reluctance from health care providers who relied too much on 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 in doctors’ offices over several long and agonizing months before I was able to convince our provider to perform the confirmatory tests. This definitive diagnostic tool for cystic fibrosis, called a sweat test, measures the amount of chloride present in sweat. The result gave us the answer we already suspected but were desperately looking for.

Watching my children suffer unnecessary delays in accessing appropriate treatment was heartbreaking. The physical, mental and emotional toll still weighs on us all, leaving a mark that fuels my determination to advocate for change.

Families deserve better than what we experienced. The path 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 the well-being of children. To achieve this, the health system must change significantly:

1. Health care providers need to recognize that cystic fibrosis can occur in people 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 evaluating for CF, particularly in nonwhite populations and families with a history of CF.
3. Medical schools and other health care education programs should provide targeted training to future providers to better recognize and diagnose cystic fibrosis in all populations.
4. Public health systems should prioritize health equity by optimize neonatal screening for cystic fibrosis based on the racial and ethnic composition of states. These investments would significantly reduce long-term medical expenses, emotional pain, and loss of quality of life resulting from late CF diagnoses and would undoubtedly advance equity in care by reducing the disproportionate racial and ethnic disparities that currently exist .

Today, Jarrod is doing well with cystic fibrosis. So far, he has gone through the worst of his illness, with his last hospitalization and lung operation occurring in the fall of 2021. In addition to working, he helps his brother a lot, transporting him to school in the morning.

Jahsir is doing well despite his limitations. He is also autistic and has food avoidance/restriction disorder. Even though he doesn’t talk much, he knows it and he also likes to sing, especially the McDonald’s commercial song. Her teacher says he is a great help and every morning he sets out the day’s schedule.

Jarrod has wanted to see himself represented in the largely white CF community for so long, and we never really had that opportunity when he was Jahsir’s age. Through the founding of our family, Jahsir became the representation Jarrod dreamed of, a truly bittersweet moment.

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