This post was coauthored by Jane Martin, RT and Kristen Szymonik BS, RRT, AE-C
Welcome to this special "Rare Disease Day" edition of the Wednesday Check in (yes, I know it's Monday - don't worry, you didn't lose two days!). Yesterday, more than 200 events in 54 countries promoted the awareness of rare diseases. Why are we talking about this? COPD isn't a rare disease - more than 30 million people in the United States alone are affected by it. We'll talk more about that as we go, but first let's learn a bit about rare disease.
Rare Disease Facts
- There are more than 6,000 diseases that are categorized as rare.
- Over 300 million people are affected by rare diseases worldwide. This is the equivalent of just under 6% of the global population.
- Rare diseases are often genetic. Others are caused by environmental exposures, infections, and other factors.
How do rare diseases affect the people who have them?
There may be a lack of scientific knowledge and solid, up-to-date information about rare diseases that cause a delay in correct diagnosis and treatment. The symptoms of some rare diseases may also be found in more common disorders, so it's not unusual for the right diagnosis to be missed at first. Quality health care for rare diseases may not be available to all who need it.
Are there rare lung diseases?
Alpha-1 Antitrypsin Deficiency, a genetic cause of COPD, is considered a rare disease. Symptoms of Alpha-1 include wheezing, shortness of breath, and reduced tolerance for exercise or activity in people, often first noticed in their 30s, 40s, and 50s. Alpha-1 is commonly misdiagnosed as asthma. One study found that it took almost eight years for many patients to get an accurate diagnosis of Alpha-1. This study also showed that some of these patients were seen by an average of three doctors before they were evaluated by a doctor who diagnosed them with Alpha-1.[ii]
Nontuberculous mycobacterial (NTM) lung disease is a rare infection caused by bacteria. People with NTM lung disease may experience symptoms such as shortness of breath, fever, weight loss, chronic cough, fatigue, and chest pain. Individuals with healthy lungs are not likely to develop NTM lung disease, but people with chronic lung disorders such COPD, bronchiectasis, and asthma are at greater risk.[iii] The COPD Foundation supports information, education, and an online community for this rare disease. The Bronchiectasis/NTM Initiative is housed on a sister website of the COPD Foundation. The goal of this initiative is to meet the unmet needs of the Bronchiectasis and NTM lung disease communities.
Some diseases, such as bronchiectasis,* are more common than we thought. Recent improvements on imaging diagnostic techniques have recently surfaced a large number of new cases. However, and despite these improvements, bronchiectasis is still underdiagnosed. Respiratory symptoms seen in bronchiectasis could be similar to other respiratory conditions such asthma, chronic bronchitis, or COPD. This disease continues to be a substantial burden on patients and the healthcare system. Increasing awareness among health care professionals may also help improve diagnosis and treatment for this condition.
*Bronchiectasis is a chronic lung disease in which the bronchial airways - the tubes that carry air in and out of the lungs - become widened.[iv] These changes in the airways can cause mucus to collect, leading to local chronic inflammation and scarring in the lung. Patients usually have frequent cough and large amounts of mucus production.
Can observing Rare Disease Day, or other specific disease days, make a difference? Yes, it really can. In the short term, it raises awareness. In the long run, it will hopefully lead to achieving equal access to rapid diagnosis, as well as better treatment, health care, and social opportunity for all people affected by a rare disease.
No, COPD is not a rare disease. But awareness, advances in research, and access to the best possible quality of care for everybody with a chronic disease - rare or not - is something we all strive for.
Many thanks to my colleagues at the COPD Foundation for contributing to this Check in.
[i] Rare Disease Day website. https://rarediseaseday.org/article/what-is-a-rare-disease. Accessed February 11, 2021.
[ii] Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with α1-antitrypsin deficiency between 1968 and 2003. Chest. 2005;128(3):1179-1186.
[iii] Young JD, Balagopal A et al. Differentiating colonization from infection can be difficult. Nontuberculous mycobacterial infections: Diagnosis and treatment. J Respir Dis. 2007;28(1):7-18.
[iv] Weycker D, Hansen G, Seifer F. Prevalence and incidence of non-cystic fibrosis bronchiectasis among US adults in 2013 Chronic Respiratory Disease 2017;14(4): 377-384.