Despite so much advancement made by man over the centuries, there are still a lot of mysteries in this world. Among these mysteries are some rare diseases that the medical world is baffled by.

According to an estimate, there are more than 7,000 known rare diseases and, with advances in medical technology and research, more are being discovered and understood every day. And with each new discovery, scientists and researchers get closer to unlocking the secrets of the human body and creating better treatments for those suffering from rare diseases.

Everyone in the world has suffered from a disease, and every part of the body is susceptible. However, many of these conditions are still puzzling doctors and troubling patients. From the Alice in Wonderland syndrome that might have inspired Lewis Carroll, to the disease that may have made an English king mad, let’s take a look at some of these obscure illnesses.

Walking corpse syndrome

I am not talking about zombie movies here, in which the undead walk around the streets and hunt the living ones. I am talking about a real medical condition, also known as Cotard’s syndrome or nihilistic delusion.

It is a neuropsychiatric disorder in which a person suffering from doesn’t turn into a zombie, but believes they are dead or missing their soul, organs, blood or certain body parts! The condition was first described by the French neurologist and psychiatrist Dr Jules Cotard in 1882 and, according to him, this particular disease covers a series of psychotic delusions, ranging from a person’s belief that they have lost all their internal organs, to their certainty that they are actually dead.

What causes the walking corpse syndrome? While the exact cause of the disease is unknown, it is thought that some illness or injury may damage the regions of the brain involved in this emotional feedback, leading to feelings of dissociation that may worsen to a state of feeling dead. This can be extremely disorienting for those afflicted with the syndrome due to the feeling of disconnect between their bodies and their minds. Moreover, those suffering from the disorder often report feeling as though they are in a trance-like state.

Foreign accent syndrome

One of the most mysterious medical conditions out there is ‘Foreign accent syndrome’ (FAS). It’s a rare disorder that causes people to suddenly speak with an accent that is completely different from their native one. There have been reported cases of people speaking with Chinese, French, and even Swedish accents, even though they had never been to those countries or spoke those languages.

While the cause of this rare disorder is still unknown, researchers are working hard to learn more about it.

There have been some success stories of people with foreign accent syndrome being able to regain their native accent. But for most, the condition is chronic and can be a source of frustration and isolation in many situations.

However, many people believe that the condition is just a hoax, and there is nothing serious about it. But this is a real medical condition which often results after a head injury, stroke or some other type of damage to the brain.

Exploding head syndrome

As the name suggests, exploding head syndrome is also a rare and mysterious medical condition which is characterised by loud, sudden noises that the sufferer perceives as coming from within their own head, usually when a person is asleep. Although it may sound like something out of a horror movie, this condition is very real.

While the exact cause of exploding head syndrome is still unknown, it is believed to be linked to stress, sleep deprivation and changes in hormones. As for treatment, it can be difficult to manage symptoms as the exact causes are unknown. However, some treatments have been found to be effective, such as counselling, relaxation techniques and medications like antidepressants.

Alice in Wonderland syndrome

Alice in Wonderland syndrome (AWS) is another rare neurological disorder that causes individuals to experience distorted perceptions of reality, leading to distorted sense of time, size and perception of one’s own body image. The condition, also known as micropsia or Lilliput sight, can also affect the sense of hearing and touch.

The causes of AWS are unknown, though it is thought to be related to migraines, drugs and illnesses. The effects of AWS can be mysterious and disorienting. People often report feeling as if their body has been shrinking or growing, or even that the world around them has changed. Thankfully, there are treatments available to help people who are suffering from AWS. These include medications, lifestyle changes and even psychotherapy.

This syndrome is named after Lewis Carroll’s Alice’s Adventures in Wonderland, in which Alice goes through many bizarre experiences similar to those which might be experienced by a micropsia sufferer. It is said that Carroll suffered from migraines and some speculate that his suffering may have prompted many passages in the work.

Porphyria

Porphyria is a group of diseases caused by a deficiency of one of the enzymes involved in the production of heme — a component of haemoglobin and affects the skin and nervous system. This deficiency can cause a variety of symptoms, including muscle weakness, abdominal pain, nausea, vomiting and confusion. Other symptoms include increasing sensitivity to the sun, itching and swelling.

It is said that toxins resulting from the failed heme production can affect the colouring of various body parts, especially after exposure to sunlight. Moreover, the toxins lead to the dark urine and faeces. Porphyria can be scary, but with the right help and support, it can be treated.

Progeria

Progeria, or Hutchinson-Gilford progeria syndrome (HGPS), is a rare, fatal, genetic condition of childhood with striking features resembling premature aging.

It is reported that profound growth delays begin at between nine and 24 months, leading to abnormal facial developments such as a disproportionately small face, bulging, prominent eyes and an underdeveloped jaw. Later, the patient develops various age-related diseases like heart problems, arthritis, etc. It’s estimated that one in every four to eight million babies are born with this condition.

The US National Organisation of Rare Disorders (NORD) says sufferers eventually lose the layer of fat beneath the skin and, in time, elasticity is lost in artery walls, leading to fatality via heart attack or stroke in 90 percent of sufferers.

Prion, the protein that takes the bad turn

We all know that proteins are very important for humans, but you may have never heard of proteins that turn out to be ‘bad’ ones — the ones that make a person go mad and consequently do inhuman things, and these are called mutated prions.

In 1997, Stanley Prusiner, a professor of neurology and biochemistry, won the Nobel Prize in Physiology or Medicine when he discovered them. Collectively, prion disorders affect about one in 1,000,000 people a year.

Let’s dig deep into prions. Prions are misfolded proteins that have the ability to transmit their misfolded shape onto normal variants of the same protein.

While examining the infectious causative agent of certain diseases, scientists found that the culprit behind was a prion with an abnormally-shaped protein known as PrPSc.

This mutated prion has one goal — to turn the unmutated prions around it into mutant ones, (in other words, PrPSc attaches to the normal protein (PrPC) and promotes its transformation into PrPSc).

So far, it is not entirely clear why a good prion goes down a bad path. But the these three scary diseases such as mad cow (Bovine Spongiform Encephalopathy, SEG) or Creutzfeldt-Jakob disease, Kuru or the laughing death, and fatal family insomnia are caused by this infamous mutant prion.

While infectious prions can affect people anywhere in the world, the main point to understand is that these diseases are extremely rare.

Water allergy or aquagenic urticaria

Known to have affected only 32 people up till now, water allergy is extremely rare. Let’s understand this unusual disease or disorder in detail: the water in our bodies is apparently not a problem. However, the reaction or allergy is triggered by skin contact and occurs regardless of temperature, purity or salt content. Even chemical-free, many-times distilled water will set it off. It is not strictly an allergy, but a hypersensitivity to the ions found in non-distilled water.

So, what causes water allergy? The exact cause of water allergy is still unknown; however, some scientists hypothesised that the cause may include the release of histamine by mast cells. For instance, when a person has an allergic reaction, their immune system releases histamines as a response to fight off the harmful substance. These histamines can trigger allergy-like symptoms depending on what part of the body is affected. In more severe cases, even drinking water can cause one to experience symptoms including: rash around the mouth, difficulty swallowing, wheezing and difficulty breathing.

Human werewolf syndrome or hypertrichosis

As the name suggests, this medical condition causes excessive hair growth anywhere on a person’s body. It can affect both male and females, but is extremely rare. The abnormal hair growth may cover the face and body, or be in small patches on certain parts of the body. Hypertrichosis can appear at birth or develop over time.

It is said that hypertrichosis usually produces one of three types of hair: the first is vellus: they may be located anywhere but the soles of a person’s feet, back of ears, around lips and palms, or on scar tissue. Second is lanugo, which is soft and fine, like that on the body of a new-born baby. The third is called terminal, in which the hair is long and thick, and usually very dark.

The causes of hypertrichosis aren’t well understood, though there is a form of the disease that tends to run in families. Hypertrichosis, regardless of type, is infrequent.

Congenital hypertrichosis lanuginosa for example, is extremely rare. It is reported that only about 50 cases of this kind of hypertrichosis have ever been documented, according to JAMA (Journal of American Medical Association) Dermatology Trusted Source.

Sadly, there is no cure to prevent the congenital form of the disease.

Published in Dawn, Young World, January 14th, 2023