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Exploring Rare Diseases

Andre Joshua T. Aniñon

Never mind its difference from the terms “disorder,” “infection,” or “syndrome”—if there is one thing people associate with health, it’s disease. While countless diseases are recognized in the medical world and are common to the typical individual, some lurk in the records of the few percent of people who are affected with a rare disease.

A “rare/orphan disease” is any disease that only affects a small percentage of the population. In the United States for instance, a disease is only classified as “rare” if less than 200,000 people have the particular disease. As of today, there are more than 7,000 rare diseases being recorded, and the list only grows longer as time goes by. Eighty percent of rare diseases are genetic in nature, and fifty percent of the individuals affected are children.

February of every year is celebrated as Rare Disease Awareness Month. And while thousands of rare diseases exist—and all are equally deserving of recognition—here are some which blur the lines between fictional fantasy and medical reality.

For the first disease, it is interesting to remember that 70 percent of our body is made up of water—but the existence of Aquagenic urticaria, or “water allergy,” seems rather odd. Though not considered a true allergy since it does not trigger a histamine response*, some individuals develop itchy hives and welts even after mere minutes of exposure to water—something innate and essential to us.

Also known as the “Stone Man Syndrome,” Fibrodysplasia ossificans progressiva (FOP) is a progressive genetic disorder that turns soft tissues into bone over time. This is caused by amutation of a gene found in and responsible for the growth of bone, muscles, tendons, and ligaments. If unchecked, a person’s voluntary muscles may eventually be affected, and it may cause joints to fuse together. Occurring in  only about one in two million people, there are currently no treatments or cures for FOP. Trauma worsens the condition; hence surgical intervention may just produce even more bone in the affected area.

If FOP can “turn a person into stone,” Epidermodysplasia verruciformis, or “Tree Man Syndrome,” transforms them into a tree. Caused by a rare mutation of a gene, warts that resemble bark grow on an affected individual’s skin—and worsen if the individual is exposed to sunlight. While these warts may be benign early in life, they can become malignant later on.

Although the Tree Man Syndrome can only worsen if the individual is exposed to sunlight, Xeroderma pigmentosum, or “Vampire Syndrome,” makes it impossible for one to merely step into it. While humans require sunlight to garner Vitamin D, prolonged exposure could be dangerous due to the sun’s ultraviolet (UV) rays. Although our body constantly repairs broken DNA brought upon by UV rays, individuals with Xeroderma pigmentosum have an impairment with this function, and are therefore extremely sensitive to UV rays. These people must be completely shielded from the sunlight, just like vampires. If they aren’t careful, they could experience severe sunburns and skin breakdown, and they could easily develop skin cancer. Only one in a million people are estimated to have the Vampire Syndrome.

While there are still thousands of rare diseases to explore and perhaps even more to discover, it is important to recognize that these diseases, though minute in percentage, exist. Approximately 50 percent of rare diseases do not have a foundation supporting or researching them; hence it is imperative that these be put to light.

The foundation of medical science depends on research and awareness, and in order to help people and better the community, knowledge on these topics must be abundant. If these remain unnoticed and unsupported, affected individuals will continue to suffer—and you do not need to be a doctor to understand that.

* Histamine is the compound responsible for allergic reactions. Once the body detects a substance one is allergic to, the cells release histamine—causing itchiness, breathing problems, swelling, and the like. Antihistamines are often used to treat these allergic reactions.

(With notes from https://globalgenes.org/rare-diseasesfacts-statistics/ and http://http://www.iflscience.com/health-andmedicine/ 10-strangest-knownmedical-conditions/)

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