4 Unusual Diseases You Didn’t Know Existed (Until Today)

4 Unusual Diseases You Didn’t Know Existed (Until Today)

There are currently between 6,000 and 7,000 diseases that have been identified. We bet you’ve never heard of these rare diseases.

That sounds like a significant total, but the real problem lies in treatment scarcity: fewer than 500 of those have FDA-approved remedies. So, over 90% of rare diseases have no viable treatment.

In the U.S., a disease that presents in less than 1 in 200,000 people is considered a rare ailment. That figure falls in line with the definition of the Orphan Drug Act of 1983, which was instilled to encourage clinical trials and treatment development for rare diseases, like Huntington’s disease, ALS, and muscular dystrophy.

While those conditions affect a small number of people in relative terms, there are certain diseases that are so rare, that you probably didn’t even know they existed – until now.

Progeria – Accelerated Aging

Hutchinson-Gilford progeria is an extremely rare disease that affects roughly 16 people in the U.S. at one time on average.

progeria accelerated aging rare disease

The condition is characterized by a dramatic, accelerated aging where kids die in their teen years – as a result of ‘old age’. The disease’s name is accessibly titled; ‘progeria’ is derived from the Greek language, meaning ‘prematurely old’.

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Children suffering from the fatal genetic disease are born looking healthy, but start displaying symptoms of rapid aging within two years.

Eosinophilic gastroenteritis – Allergic to Food

Eosinophilic gastroenteritis disorder, or EGID, is a condition in which the body’s immune system is in attack mode when food is ingested. The body interprets food as bacteria, responding with an invasion of white blood cells that inflame digestive tracts.

allergic to food

People combatting the rare disorder slowly lose their tolerance for more and more types of food, leading to vomiting, diarrhea, and stomach pains. Sometimes, a person with EGID will need to take a ‘food hiatus’ so their body won’t reject the meal, resorting to unappealing liquid protein formulas to survive.

N-Glycanase deficiency – The First of its Kind

Matt Might had to track down his son’s genetic disease himself, as no one seemed to have an answer as to what was ailing his son (you can follow along his quest in this The New Yorker feature).

rare genetic deficiency disease“He was the first child ever in the history of medicine diagnosed with this disorder,” said Dr. Christopher Austin, director of the National Center for Advancing Translational Sciences.

Might’s discovery of the N-Glycanase deficiency disease, which is aptly named for the lacking enzyme involved, eventually helped connect about 30 other children who share symptoms of the new disease.

Addison’s disease – Salt Cravings & Low Cortisol

Addison’s disease occurs when adrenal glands produce inefficient amounts of cortisone, a hormone that helps the body deal with stress and facilitates other important functions. Blood pressure, heart functions, food metabolism, and insulin balance are all dependent on cortisol. Low blood pressure in particular can be fatal.

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Symptoms of the disease include fatigue, skin discolouration, and oddly, cravings for salt or salty foods.

addison's disease john kennedy

After his death, it was revealed that President John F. Kennedy had Addison’s disease. Addison’s is said to affect roughly 40-60 people per million of the general U.S. population.

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