"It was just really hard to breathe," says Sarah Carroll, recalling the earliest symptoms of idiopathic subglottic stenosis (iSGS). "It felt like there was something in my throat that was stopping me from breathing."
iSGS is a rare condition that primarily affects women and causes scar tissue to form just below the vocal cords, narrowing the airway and limiting airflow. Patients often experience shortness of breath and voice changes, and because symptoms can resemble more common conditions such as asthma, many face a long road to diagnosis.
"There's a progressive worsening of shortness of breath," says Alexander Hillel, M.D., professor of otolaryngology-head and neck surgery at the Johns Hopkins University School of Medicine. "On average, it takes about two years for an individual with idiopathic subglottic stenosis to actually be diagnosed."
For Carroll, a resident of Henrico, Virginia, that timeline rang true. Before symptoms began around 2017, she had always been active, playing soccer in college and later running half marathons. But as her breathing worsened, exercise, conversations and everyday tasks became difficult. The condition also began to affect her work as a young attorney, where clear and confident speech was essential.
"Being a young litigator was stressful enough without the added struggle to breathe when arguing a motion or taking a deposition," Carroll says.
She sought answers from multiple specialists and was diagnosed with asthma, but inhalers did not help. A turning point came when imaging finally revealed severe airway narrowing.
"I remember being told I was breathing out of less than a straw," Carroll says.
The diagnosis was both validating and frightening, confirming that her symptoms were real but also revealing how serious her condition had become.
Over the next several years, Carroll underwent repeated dilation procedures to reopen her airway. However, relief was temporary. Within months, the scar tissue returned, and the cycle continued. In total, she had five procedures before seeking another option.
Determined to break that cycle, Carroll researched alternatives and found Hillel at Johns Hopkins. He recommends an endoscopic resection procedure to remove scar tissue and provide more durable relief for patients with frequently recurring disease. For patients like Carroll who hope to start a family, stabilizing the airway is especially important because pregnancy places additional demands on breathing, Hillel says, as women are effectively "breathing for two."
Carroll entered treatment cautiously optimistic. Recovery was demanding, but follow-up exams eventually showed no return of scar tissue, a milestone that changed how she envisioned her future. Soon after, she felt confident moving forward with pregnancy and later welcomed her daughter.
"For the most part, I can breathe freely," she says. "Going through this made me really look at what matters and reduce the things that cause unnecessary stress."
Today, Carroll continues to manage symptoms, and the constant fear that once accompanied difficulty with breathing has eased. Her experience underscores the importance of persistence when symptoms do not match a diagnosis.
"If something doesn't feel right, keep pushing," she says. "No one is going to care more about your health than you."
For Hillel, stories like Carroll's highlight the need for greater awareness among both clinicians and patients.
"If someone has shortness of breath that doesn't respond to inhalers, it's worthwhile sending them to an ear, nose and throat doctor who can look for narrowing below the vocal cords," he says.
Rare Disease Day, observed annually on the last day of February, highlights the experiences of over 300 million people worldwide living with rare conditions. The observance underscores the importance of awareness, earlier diagnosis and continued research to improve care for patients like Carroll.
Carroll hopes sharing her experience will help others reach answers sooner.
"There should be more awareness," she says. "It's a long road, and I just wonder how many people are out there dealing with this and don't know what it is."
