One Breath at a Time: The Burden of Living with a Rare Respiratory Disease
People suffering from rare diseases can often have challenges coping with their illnesses. For those affected by a chronic respiratory disease known as Non-Cystic Fibrosis Bronchiectasis (NCFB), repeated infections and flare ups can make disease management a challenge. NCFB is characterized by symptoms including cough, breathlessness and repeated infections caused by mucus pools in the airways that lead to bacterial growth and even can cause some patients to cough up blood. There are limited treatment options indicated for NCFB, making the condition challenging to manage for both patients and physicians.
For NCFB patient Christa, this burden is all too familiar. Christa has battled with the disease for eight years resulting in a significant impact to her daily life.
What started as pneumonia progressively got worse and led to frequent exacerbations that included severe coughing, difficulty breathing and dizziness. It took several years of living with these symptoms before she was officially diagnosed with NCFB.
Christa is not alone, it is estimated that in 2001, 110,000 people in the United States are affected by NCFB, and data suggests that this is a growing concern. For some people with NCFB, the disease is caused by an infection or another underlying disease, but as many as 50 to 80% of diagnosed cases have no known cause.
"Accurate and early diagnosis of NCFB is important as the longer a patient has the disease, the greater the likelihood that it will be severe," said Dr. Michael Nelson, pulmonologist and CHEST Foundation President. “The cycle of illness for people with NCFB begins when the body is unable to clear mucus from the airways, leading to bacterial growth and chronic respiratory infection. Next, inflammation may occur which can increase airway damage and cause the airways to expand, which in turn magnifies the difficulties with clearing mucus."
The unpredictability of Christa’s flare-ups has become a major burden in her day-to-day life. For NCFB patients, flare-ups can lead to reduced lung function, hospitalization and an increased risk of death. Furthermore, during an exacerbation of NCFB, patients experience an increase in daily symptoms that can persist for weeks. Beyond the physical symptoms of the disease, research shows that people with NCFB may experience an impact on their quality of life both psychologically and socially. Symptoms can contribute to feelings of isolation for people suffering from this disease, leading to an avoidance of activities they enjoy.
“It’s difficult for people to fully understand how much living with NCFB affects not only my daily life, but any plans I hope to pursue in the near or distant future,” said Christa. “I make plans and I can't go through with them because I never know when I’m going to have another flare-up or end up in the emergency room. There have been times I have had to miss activities that are very important to me.”
People looking for information on NCFB, resources on how to discuss the disease with family or questions to ask a physician can visit https://foundation.chestnet.org