This blog post was authored by Katie Keating, RN, MS, and reviewed by the Bronchiectasis and NTM Content Review and Evaluation Committee.

Rare Disease Day is a global awareness day to raise knowledge of rare diseases. It helps to promote a better quality of life for the 300 million people with a rare disease worldwide. More than 7,000 rare diseases exist, and 72 percent of those are genetic. A disease is considered “rare” when it affects fewer than 1 in 2,000 people. This year, Rare Disease Daywill be celebrated on February 28^th.¹

Rare Disease Day began in 2008. It is organized by EURORDIS and more than 65 national patient organizations.² EURORDIS (or Rare Diseases Europe) is a group of nonprofit partner organizations that works together to improve the lives of people living with rare diseases. EURORDIS is a patient-led, international organization. It includes those with rare diseases and their families, caregivers, healthcare professionals, researchers, policymakers, industry representatives, and the general public. Organizations from North America joined the effort in 2009, followed by the rest of the world in 2010. The long-term goal of Rare Disease Day is to make sure that everyone with a rare disease gets access to diagnosis, treatment, and care.

NTM lung disease is a rare disease. People with NTM are misdiagnosed frequently. Because the symptoms of NTM lung disease and COPD are similar, most people go through a maze of specialists before they are accurately diagnosed. As you might have noticed, many people in our daily lives have never heard of NTM lung disease. Sometimes, it can be hard to find a physician that feels confident treating it.

Rare Disease Day gives people throughout the world a chance to raise awareness of rare diseases. For many, this is the one day in the year when they feel a spotlight is shown on conditions that are not as common as others. Requests for action can be at local, national, and even international levels.

It can be difficult living with a rare disease and often lonely because many people have never heard of your condition. It can be difficult at times to find support and education on how to manage your condition effectively. Also, people with rare, invisible disorders may be frequently misunderstood by others. Increased awareness may allow more people to better understand these conditions, leading to greater support for individuals with rare, invisible diseases.

What can you do to advocate for a better quality of life for those impacted by NTM lung disease and bronchiectasis? The COPD Foundation virtual advocacy day is planned for Tuesday, March 14, 2023. Join us in requesting $150M for lung health research from your congressional leaders. Please register to participate here. In the meantime, I would recommend writing notes and talking points to express to your local representative how NTM lung disease has impacted the quality of your life. Be sure to describe how this rare disease has affected you over the years.

References:

1. What is a rare disease? Rare Disease Day 2023, Date accessed, January 24, 2023; Date published, December 01, 2022, https://www.rarediseaseday.org/what-is-a-rare-disease/
2. EURORDIS-Rare Diseases Europe, Date accessed, January 24, 2023; Date published, January 23, 2023. https://rarediseases.org/organizations/eurordis-rare-diseases-europe/
3. What equity means for people living with a rare disease? Date accessed, January 24, 2023 https://download2.rarediseaseday.org/2020/Factsheet_Advocating for equity.pdf