While we’ve all heard of diseases, seen someone with a disease, and had a disease personally, it’s unlikely that we’ve encountered a rare disease. In the non-medical world, people use and interchange disease to mean infection, sickness, illness, or something similar. In the medical world, a disease is an abnormal condition that impairs bodily functions and is often associated with certain signs and symptoms.
Also called an orphan disease, rare diseases are those that are extremely uncommon and often have such low prevalence that a common doctor would not run into more than one case of that disease over a course of years, if ever. Here is a list of 10 rare diseases; you would be interested to know about
Stone Man Syndrome (Fibro dysplasia ossificans progressiva)
- Fibrodysplasia ossificans progressiva (FOP) is a progressive genetic disorder that turns soft tissues into bone over time.
- The ACVR1 gene found in bone, muscles, tendons, and ligaments regulates growth and development of those tissues, and is normally responsible for turning cartilage into bone as children develop.
- However, mutations of this gene can allow ossification to go unchecked throughout a sufferer’s life, even turning skeletal muscle into bone and causing joints to fuse together.
- It occurs in about 1 in 2 million people, and there are currently no treatments or cures.
- Trauma exacerbates the condition, so attempts to remove bone surgically just results in the body producing even more bone in the area.
Jerusalem Syndrome
- This psychological disorder occurs when a visit to the Holy Land triggers obsessive ideas about religion and even messianic delusions.
- The condition can affect anyone, regardless of religion.
- Symptoms may include compulsive cleaning and grooming, wearing white robes, and sermonizing.
- “Sufferers without a pre-existing psychiatric condition typically return to normal within five to seven days, feel some shame about their behaviour, and recover completely,” says Christine Montross, MD, assistant professor of psychiatry and human behaviour at Brown University.
Progeria
- Wrinkles, baldness, missing teeth… stick around long enough and you’re sure to have your fill. While old age happens eventually, to children affected by Progeria all of those symptoms we dread manifest themselves before the age of two.
- Unfortunately, although mentally they are still their age, many of these children develop the illnesses typically associated with the elderly such as cardiovascular disease and arthritis.
- Children affected with it rarely live till 12 or 13 years.
- This disease was highlighted in Bollywood movie, ‘Paa’ where Amitabh Bachchan’s character was afflicted with it.
Xeroderma Pigmentosum
- Humans need sunlight to synthesize Vitamin D, but too much exposure to sun’s ultraviolet (UV) rays can damage the skin.
- Barely 1 in 1 million people have xeroderma pigmentosum and are extremely sensitive to UV rays.
- These people must be completely shielded from sunlight, or will experience extreme sunburns and breakdown of the skin.
- If someone with this condition isn’t careful, they could easily develop skin cancer.
Hypertrichosis, “Werewolf Syndrome”
- People who suffer from hypertrichosis have abnormal hair growth covering their bodies. Faces can be completely covered in long hair, which is why the condition has earned the nickname of “werewolf syndrome.”
- Hypertrichosis can be either congenital or acquired.
- Those born with the condition can suffer from one of several known genetic mutations.
- Some who get the condition later in life acquired it as a side-effect from anti-balding treatments, though there are some who do not have an obvious cause.
- Treatment options include traditional methods of hair removal, though even waxing and laser treatments typically don’t provide long-lasting result.
Alice in Wonderland Syndrome
- Probably as a result of something malfunctioning in brain’s occipital lobe, this disorder causes people to perceive objects as being either much larger or smaller than they really are.
- Moreover, the individual will also misperceive passage of time and possibly have their sense of hearing and touch affected as well.
Cotard’s Syndrome
- In this mental disorder an individual who believes they are either already dead or have lost all of their vital organs.
- Oftentimes it is brought about by a brain injury and can result in people believing themselves to be immortal, which can very easily lead to unintentional suicides.
- Those afflicted with this variation of disease will often feel compelled to visit cemeteries and morgues for purpose of joining their “fellow” dead people.
- Cotard’s syndrome is often linked with intense feelings of depression and paranoia, as being alive will feel unnatural to those afflicted with it.
Auto-Brewery Syndrome
- There have been instances of people suffering from this syndrome being pulled over to take the breathalyser test, to find out that the alcohol level in their bodies were several notches over permissible limit, even though they hadn’t touched a drink.
- A type of yeast present in stomach and intestines ferments carbohydrates to produce ethanol, which in turn intoxicates the person even without drinking.
Foreign Accent Syndrome
- After surviving a stroke or event that results in traumatic brain injury, a very small number of people find themselves on other side of the event speaking with a strong foreign accent.
- While it sounds made-up, foreign accent syndrome (FAS) is very real.
- It is caused by damage to portions of brain that affect speech and coordination of muscles used when speaking.
- The damage changes the way a person pronounces vowels and consonants, shifts speech rhythm and positions the tongue differently during speech.
Alien Hand Syndrome
- This dangerous syndrome involves losing control over one of the hands which acts and manipulates objects without the person even knowing about it.
- It could place itself in a frying pan without the patient knowing and often might have to be controlled by the other hand.
- This neurological disorder occurs in people who have had two hemispheres of their brains surgically separated, or from having a stroke, and even having Creutzfeldt–Jakob disease (human form of Mad Cow Disease).
- The hand basically becomes autonomous and the person believes it has a will of its own.