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Rare diseases – more common than you think that?

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Rare diseases – more common than you think?

I recently had the chance to attend 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 is held worldwide on the last day of February every year to boost awareness amongst healthcare professionals, the general public, and policymakers about rare diseases and their impact on patients’ lives. I used to be inspired to attend the event and learn more about rare diseases and what I can do as a nurse to make a difference for patients and their families.

Some facts about rare diseases (PRA Health Sciences, 2019; Global Genes, 2019):

  • 50% of individuals affected by rare diseases are children.
  • More than 350 million people worldwide are affected by this disease.
  • Only 5% of rare diseases have an FDA-approved drug.

Overall, there are about 7,000 rare diseases and few of them have treatments. According to Eurordis (2019), “80% of rare diseases have an identifiable genetic origin, while 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 within the U.S. Because a lot of them are difficult to diagnose, some patients wait years to receive a diagnosis, while others may not receive one in any respect. Diagnosis of a rare disease is stressful, and treatment, if any, and specialist care might be costly for patients and their families.

While attending Rare Disease Day at PRA Health Sciences, I heard inspiring stories from individuals who fight day-after-day to search out a cure, including:

Each presenter gave inspiring accounts of their journey with a rare disease, the trials they endured, the triumphs they triumphed over, and their unwavering determination to search out a cure. Each presenter was passionate and clearly a formidable force to be reckoned with in terms of finding a cure. Each stated that they’ll not hand over on finding a cure, and neither should we. They are determined to make rare diseases known to the scientific community and the general public within the hopes of accelerating drug research and development.

Information about rare diseases

The presenters shared the next details about their conditions to assist us as nurses expand our knowledge:

  • : A genetic disorder that causes damage to the lungs, digestive system, liver, and pancreas. It causes cells within the body to supply thick secretions that clog tubes and passages (especially within the lungs).
  • : A genetic disorder that causes progressive damage to the nervous system and movement problems that sometimes begin in childhood and may worsen over time. Nerve fibers within the spinal cord and peripheral nerves degenerate, limiting the messages sent to the brain for movement. This translates into an unsteady gait and impaired sensory function.
  • : A rare malignant brain tumor that develops from brain cells called astrocytes (collectively, glial cells). Astrocytoma is assessed into 4 grades based on how quickly it multiplies and the way likely it’s to spread.

As nurses, now we have a singular platform to coach others and spread the word about rare diseases! It is essential that we advocate for these patients who are sometimes left with out a voice on account of the rarity of their disease. Educate yourself about your disease using the data available to you and search for opportunities to attach your patients with support or advocacy groups that might help them as well.

To learn more about all of the rare diseases identified thus far, visit Global genes.

Bibliography

Eurordis. (2019). Rare Disease Day. Retrieved from https://www.rarediseaseday.org/

Global Genes. (2019). Rare facts. Retrieved from https://globalgenes.org/

Mayo Clinic. (2019). Cystic fibrosis. Retrieved from https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

National Institute of Neurological Disorders and Stroke (NIH). (2018). Friedreich Ataxia Fact Sheet. Retrieved from https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Friedreichs-Ataxia-Fact-Sheet

PRA Health Sciences. (2019). Rare changes change all the things. Retrieved from https://prahs.com/therapeutic-expertise/rare-diseases/

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