I recently had the opportunity to attend the Rare Disease Day at PRA Health Sciences in Blue Bell, PA on February 28, 2019. Like many nurses, I had never heard of Rare Disease Day, which takes place around the world on the last day of February each year to raise awareness to healthcare professionals, the public, and policymakers about rare diseases and their impact on patients’ lives. I was inspired to attend this event and learn more about rare diseases and what I can do as a nurse to make a difference for patients and their family members.
Some facts about rare diseases (PRA Health Sciences, 2019; Global Genes, 2019):
- 50% of people affected by rare diseases are children.
- More than 350 million people worldwide are affected.
- Only 5% of rare diseases have an FDA approved drug.
Overall, there about 7,000 rare diseases and few have a treatment. According to Eurordis (2019), “80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.” Rare diseases affect about 30 million people in the US. With many of them being difficult to diagnose, some patients wait years to obtain a diagnosis, while others may never obtain a diagnosis at all. A diagnosis of a rare disease is stressful and treatment, if it exists, and specialist care can be costly for the patients and families.
While attending Rare Disease Day at PRA Health Sciences, I listened to inspirational stories from those who are fighting for a cure every day, including:
- Emily Kramer-Golinkoff (Cystic Fibrosis)
- Klye Bryant (Friedreich Ataxia)
- Rob Long (Grade 3 Anaplastic Astrocytoma)
Each presenter gave an inspirational testimony about their rare disease journey, the trials they have endured, their victories, and their tenacious determination for a cure. Each presenter was passionate and clearly a formidable force to be reckoned with when it comes to finding a cure. They each declared that they will not give up the fight to find a cure and neither should we. They are determined to make rare diseases known to the scientific community and the public at large, with the hope to accelerate research and drug development.
Rare Disease Information
The presenters shared the following about their respective diseases to help increase our knowledge as nurses:
- Cystic Fibrosis: A genetic disorder causing damage to the lungs, digestive system, liver, and pancreas. It causes cells in the body to produce thick secretions that plug up ducts and passage ways (especially in the lungs).
- Friedreich Ataxia: A genetic disorder that produces progressive nervous system damage and movement problems which usually occur in childhood and can worsen over time. Spinal cord nerve fibers and peripheral nerves degenerate, limiting the messages that are sent to the brain for movement. This translates to an unstable gait and impaired sensory functions.
- Anaplastic Astrocytoma: A rare malignant brain tumor that develops from brain cells called astrocytes (collectively as glial cells). Astrocytomas are classified in four grades dependent upon how quickly they reproduce and their likelihood of spreading.
As nurses, we have a unique platform to educate others and spread the word about rare diseases! It’s important that we advocate for these patients who often are voiceless due to the rarity of their disease. Educate yourself about their disease with what information is available and seek opportunities to connect your patients with support or advocacy groups that can help them as well.
To learn about all the rare diseases that have been identified so far, visit Global Genes
More Reading & Resources
Clinical Model of Exercise-Related Dyspnea in Adult Patients With Cystic Fibrosis
A Longitudinal Study of Lipid Peroxidation and Symptom Clusters in Patients With Brain Cancers
Porphyria: A Rare, Complicated, and Misdiagnosed Disease