Miner Health Minute: National Rare Disease Day 2021
By UTEP School of Nursing Dean Leslie K. Robbins
Nursing professionals play a vital role in educating the public about health issues to increase their health literacy and sense of well-being.
Rare Disease Day is observed Feb. 28, 2021. This is a wonderful opportunity for health professionals to raise awareness about rare diseases and their impact on patients' lives.
A rare disease is defined as a condition that affects fewer than 200,000 people in the United States. Altogether, there are between 25-30 million Americans living with a rare disease. However, because most rare diseases are not tracked when a person is diagnosed, it is difficult to determine how many are affected.
People with rare diseases often identify themselves as zebras because of the animal’s unique black and white stripes. The zebra’s distinct markings symbolize individual uniqueness and community commonality. Today, the zebra is recognized as the official symbol of rare diseases in the United States. Although each rare disease is unique, there are many commonalities that unite the rare disease community.
One such rare disease is benign essential blepharospasm, or BEB, a rare progressive neurological disorder characterized by abnormal, involuntary blinking or spasms of the eyelids. It is a type of dystonia or movement disorder.
This disease affects approximately 50,000 people in the United States. Up to 2,000 new cases of BEB are diagnosed annually. The prevalence of this disease is 5 per 100,000 individuals. Even though, BEB occurs in both women and men, the disease is 2-4 times more likely to affect middle-aged women.
The condition usually occurs in adults ages 40-60. Although it is non-life-threatening, BEB gradually worsens over time and can greatly affect a person’s quality of life.
Symptoms begin with increased blinking, dry eyes, eye pain, light sensitivity and eye irritation that is aggravated by environmental factors such as wind, air pollution, sunlight and other irritants. As the condition progresses, spasms of the muscles surrounding the eyes can cause involuntary winking, squinting or bilateral closure of the eyelids.
Individuals with BEB have increasing difficulty keeping their eyes open, which can lead to severe vision impairment including functional blindness. In more than half of all people with BEB, the symptoms of dystonia spread beyond the eyes to affect facial muscles.
While the cause of BEB is unknown, the condition likely results from a combination of genetic and environmental factors.
However, more research is needed to better understand the causes of BEB, which can lead to better diagnosis and treatment options.
BEB is one of approximately 7,000 rare diseases known today. The majority of rare diseases have no cure and many go undiagnosed. Rare Disease Day is an opportunity to positively impact individuals with rare diseases and their families.
For more information about BEB, visit the Benign Essential Blepharospasm Research Foundation at www.blepharospasm.org/ .