Idiopathic Subglottic Stenosis (iSGS): A Patient's Journey and Call for Awareness

Idiopathic Subglottic Stenosis (iSGS), a rare medical condition predominantly affecting women, causes the airway below the vocal cords to narrow due to scar tissue formation. Sarah Carroll, a patient from Henrico, Virginia, recently underwent an endoscopic resection procedure at Johns Hopkins University School of Medicine after experiencing diagnostic delays and recurrent scar tissue. Her case highlights the challenges of iSGS and underscores ongoing efforts to increase awareness among healthcare providers and the public.

Understanding Idiopathic Subglottic Stenosis (iSGS)

Idiopathic subglottic stenosis (iSGS) is a rare medical condition characterized by the formation of scar tissue directly beneath the vocal cords. This tissue growth leads to a narrowing of the airway, which restricts airflow. Common symptoms include shortness of breath and changes in voice. The condition primarily affects women.

Diagnosing iSGS can be challenging due to the similarity of its symptoms to more prevalent conditions, such as asthma. Patients often experience an average diagnostic delay of two years.

Patient Journey: Sarah Carroll's Experience

Sarah Carroll, a resident of Henrico, Virginia, encountered the difficulties associated with iSGS diagnosis and treatment. Her symptoms, which included severe breathing difficulties, began around 2017 and progressively worsened, impacting her physical activities, conversations, and professional responsibilities as an attorney.

Carroll initially received an asthma diagnosis, but inhalers did not alleviate her condition. Subsequent medical imaging revealed significant narrowing of her airway. Over several years, Carroll underwent five dilation procedures aimed at reopening her airway. However, the scar tissue consistently recurred within months, providing only temporary relief.

Specialized Treatment at Johns Hopkins

Seeking a more lasting solution, Carroll consulted Dr. Alexander Hillel, a professor of otolaryngology-head and neck surgery at Johns Hopkins University School of Medicine. Dr. Hillel recommended an endoscopic resection procedure. This approach is designed to remove scar tissue and aims to provide more sustained relief for patients with frequently recurring iSGS.

Airway stabilization is considered particularly important for patients who may be planning to start a family, as pregnancy increases demands on the respiratory system.

Following the procedure, Carroll's recovery was described as demanding. Subsequent medical examinations confirmed that no recurrence of scar tissue was present. This outcome enabled her to pursue family planning, and she later welcomed her daughter. Carroll reported improved breathing capacity and reduced anxiety related to breathing difficulties.

Call for Increased Awareness

Carroll's experience underscores the importance of patient persistence in seeking medical answers when initial diagnoses do not adequately address symptoms. Dr. Hillel emphasized the need for increased awareness of iSGS among both clinicians and patients.

He recommends that individuals experiencing shortness of breath that does not respond to inhalers consult an ear, nose, and throat specialist to investigate potential narrowing below the vocal cords.

Rare Disease Day, observed annually on the last day of February, serves to increase global awareness for the more than 300 million people living with rare conditions. The initiative advocates for earlier diagnosis and continued research to enhance patient care. Carroll expressed hope that sharing her story will contribute to broader awareness and assist others in receiving timely diagnoses.