Practice Tip of the Week: Rare Disease Day is February 28th
Tuesday, February 12, 2019
Posted by: Roy Muyinza
“She had blue skin,
And so did he.
He kept it hid
And so did she.
They searched for blue
Their whole life through,
Then passed right by-
And never knew.”
- Shel Silverstein
By: Ellen Martin, PhD, RN, CPHQ
Director of Practice, Texas Nurses Association
The theme for the 2019 Rare Disease Day is “Show your rare, show you care.” Patients with rare diseases and their families often feel isolated and anxious because they don’t know what to expect about the course of their illness in the future. The Rare Disease Day website has moving stories that show the devastating effects of a rare disease, both financial and emotional. Many of these rare conditions are treated with orphan drugs — medications that are not mass-produced due to their limited use — that can be costly, and medical expenses can add up quickly.
An estimated 350 million people worldwide suffer from rare diseases. Some conditions are extremely rare, with only a few cases ever reported in the literature; others may affect dozens or hundreds of people. Many rare diseases have a genetic component, can affect the young or the old, can be chronic, acute or life-threatening, and some are debilitating and progressive. The US defines a disease as rare if it affects fewer than 200,000 people. The European Union defines rare diseases as those with a prevalence of no more than 50 cases per 100,000 population.
Identification and treatment of rare diseases is a truly international effort. With the advent of newborn screening, infants are being diagnosed and treated earlier than ever before. As genetic testing becomes more sophisticated, rare diseases are being identified and studied. A few years ago, the BBC published the story of a four-year old girl from the United Kingdom who became one of the first children to have her specific genetic abnormality identified through the 100,000 Genomes Project, an initiative of the National Health Service.
Patients with rare diseases and their families experience many challenges. For some diseases, the patients may have mysterious symptoms and physicians who aren’t familiar with the condition offer diagnoses and treatments that may not be effective. It can take years to get an accurate diagnosis. Once diagnosed, patients and families often travel long distances to see an expert on their condition. Some people even relocate to ensure ongoing access to care. When there are few cases reported in the research literature, clinicians do not have good information on treatments.
Nurses can be an ongoing source of support for patients and families and refer them to resources such as Patients Like Me and encourage them to access rare disease resources.
Rare Disease Resources
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