MEDICAL ZEBRAS: Definition of Rare Diseases

By Staff Reporters

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A medical zebra is rare a disease, one that is so rare that most doctors have not encountered a patient with that disease. Having only read about the disease in a textbook or in the case of many recently defined diseases, not at all. It is therefore difficult for medical doctors to diagnose these individuals.

The term originates from a popular saying among clinicians, “when you hear hoof-beats, think horses, not zebras”, meaning that when diagnosing a patient, one should first exclude the most common causes for a patients symptoms, before looking for rare causes. While this is a good idea in everyday practice, one must not forget to make the effort to go “zebra hunting” when the common causes don’t explain the full clinical picture. This is especially important with the current growth of genetics and personalized medicine.

Examples:

  • Sutton’s law – perform first the diagnostic test expected to be most useful
  • Occam’s razor – select from among competing hypotheses the one that makes the fewest new assumptions
  • Leonard’s law of physical findings – it is obvious or it is not there
  • Hickam’s dictum – “Patients can have as many diseases as they damn well please”
  • Zebra print ribbon – awareness ribbon for rare diseases
  • Samuel Gee – author of Medical lectures and aphorisms (1902)
  • James Alexander Lindsay – author of Medical axioms, aphorisms, and clinical memoranda (1924)
  • MaimonidesCommentary on the aphorisms of Hippocrates and Medical aphorisms of Moses (12th century)
  • Sagan standard – Extraordinary claims require extraordinary evidence
  • Twyman’s law – Any figure that looks interesting, or different, is usually wrong.

Now, a medical aphorisms is a pithy statement denoting a general truth. They have a special niche in medical discourse and writing. The use of aphorisms in medicine dates to ancient times and continues today.

EDUCATION: Books

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“RIGHT TO TRY” ACT: Individual Patient Treatments

TO FIX THE FDA APPROVAL’S FLAW

By Staff Reporters

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DEFINITION: Right-to-try laws are United States state laws and a federal law that were created with the intent of allowing terminally ill patients access to experimental therapies (drugs, biologics, devices) that have completed Phase I testing but have not been approved by the Food and Drug Administration (FDA).

Right to Try 2.0 laws could help fix FDA’s approval process; Right to Try for Individualized Treatments

This law would allow patients suffering from rare and genetic diseases to try personalized treatments not yet approved by the FDA, as long as they have the support of their physician and have exhausted other treatment options. This policy would have an outsized impact on patients with rare diseases. Although rare diseases have small patient pools by definition, collectively, about 30 million Americans are estimated to have a rare disease.

What’s more, 80% of these rare diseases are genetic in nature, and 95% have no FDA-approved treatment.

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Today is RARE DISEASE DAY

By Staff Reporters

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Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.

Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose.

CITE: https://www.amazon.com/Dictionary-Health-Information-Technology-Security/dp/0826149952/ref=sr_1_5?ie=UTF8&s=books&qid=1254413315&sr=1-5

Rare Disease Day is observed every year on 28 February (or 29 in leap years)—the rarest day of the year. It was set up and is coordinated by EURORDIS and 65+ national alliance patient organizational partners. Rare Disease Day provides an energy and focal point that enables rare diseases advocacy work to progress on the local, national and international levels.

LINK: https://www.rarediseaseday.org/#

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ORDER: https://www.amazon.com/Dictionary-Health-Insurance-Managed-Care/dp/0826149944/ref=sr_1_4?ie=UTF8&s=books&qid=1275315485&sr=1-4

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