A rare disease is said to be an illness that affects a small percentage of the population, this limits scientific research, clinical expertise and patient access to get effective treatment options.
These diseases are also called ‘Orphan Diseases’.
Some of these rare diseases have patient populations of fewer than even one hundred.
Due to this, it becomes difficult to find treatments for such people. It becomes a difficult public health concern for any country.
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Causes of Rare Diseases
The exact cause of these rare diseases is unknown; mostly they are inherited and are caused by genetic changes or mutations.
These rare diseases which are caused by genetic mutations are referred to as “genetic” diseases and can be passed from one generation to the next.
A few other rare diseases are said to be caused by infections, allergies, or environmental factors such as diet, smoking, and exposure to toxins.
7000 rare diseases and disorders have been identified and new ones are being discovered regularly.
It has been seen that 80% of these rare diseases have a genetic origin.
These rare diseases cause unusual physical and psychological symptoms that have left medical professionals baffled as they are unable to make a proper diagnosis.
Let us find out the types of rare diseases which exist in the world.
Foreign Accent Syndrome
Foreign Accent Syndrome (FAS) is a kind of rare speech disorder.
A person starts speaking with a different accent different from the person’s native language.
It is common after a stroke, head injury or any other brain injury. 60 cases of FAS have been reported in the world.
This can be treated using behavioral therapy, speech therapy, and anti-anxiety medications.
The first case was reported in 1941 of a Norwegian woman who developed a strong German accent.
Laughing Death
Laughing Death or Laughing Sickness is commonly known as ‘Kuru’.
This is caused by an infectious protein that is found in contaminated human brain tissue.
People suffering from Kuru are characterized by tremors and random outbursts of laughter.
This is common among the people from New Guinea who practiced a form of cannibalism in which they ate the brains of the dead person as part of a funeral ritual.
People suffering from kuru die within 24 months after the appearance of symptoms.
No proper treatment is available. Only 9 cases have been reported and is a fatal brain disorder without any cure.
Water Allergy
Water Allergy is also known as ‘aquagenic urticaria’ is an extremely rare disease.
In this disease, urticaria or (hives) develop immediately after the skin comes in contact with water, regardless of the water temperature.
This disease is most common among women.
The symptoms begin around the onset of puberty. People suffer from itching and burning of the skin.
People suffering from this disease experience debilitating pain while sweating, crying or taking a shower.
A few people who suffer from this disease can’t even drink water as it can trigger the disease.
Only 32 people have been reported who suffer from this disease. It can only be treated with allergy medicines and lifestyle changes.
Hutchinson-Gilford Progeria
This is also known as ‘Progeria’ and is a rare genetic condition that causes a person to age prematurely.
Children suffering from Progeria appear healthy but by the age of two they start ageing prematurely.
In the first two years of life, a child suffering from progeria starts showing slow growth and hair loss.
Progeria can even lead to fatal heart complications. It is incurable but the symptoms are manageable.
The life expectancy is 14 years and a drug called ‘Ionafarnib’ can extend the life expectancy by 1.6 years.
Till now 134 cases have been reported.
Alice in Wonderland Syndrome
This is a rare disease and is also known as Micropsia, Lilliput Sight or Todd’s Syndrome or Dysmetropsia.
Alice in Wonderland Syndrome (AIWS) is a kind of rare neurological disorder that is characterized by distortions of visual perception, body image, and the experience of time.
People begin to see things smaller than they are; feel an alteration in their body size and a memory loss.
This disease has been reported mostly in children and young adults. They experience visual hallucinations.
The symptom is named Alice in Wonderland Syndrome after Lewis Carroll’s famous 19th-century novel Alice’s Adventures in Wonderland.
In the story, Alice, the main character, experiences several situations similar to those of micropsia and macropsia.
At present, there is no treatment for AIWS. There are 166 cases reported so far.
Morgellons Disease (MD)
This is a rare disease that afflicts the skin which in turn afflicts the mental state of the person suffering from this syndrome.
The symptoms are so weird that it has left the medical fraternity baffled.
It is characterized by minuscule thread-like structures protruding out of wounded or healthy regions of skin; these structures are generally in white, black, red or blue colours.
The patient feels an agonizing sensation of an object creeping or crawling beneath the outermost body tissue layer and they get a stinging or biting feeling in the affected portions of the skin.
The patient suffers from some kind of delusion as no microbes are present on the skin.
Doctors treat this disease with a course of antibiotics and antipsychotic drugs. Till now 10,000 cases have been reported in the world.
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Fish Odour Syndrome
Fish Odour syndrome also known as‘trimethylaminuria’ is a rare metabolic disease.
The symptoms of this disease are present from birth.
People suffering from this rare disease emit an offensive body odour. There is a smell of rotting fish in their urine, sweat, breath, saliva, and vaginal secretions.
This is due to the abnormal excretion of trimethylaminuria (TMA) in urine, sweat, breath, saliva etc.
This disease may be caused by faulty genes of the parents which a child inherits, due to excessive proteins in one’s diet, increase in bacteria in the GI tract, liver disease, kidney disease, poor hygiene, and blood-borne halitosis.
There is no cure for this disease but the treatment is done to get rid of the bad odour.
This is done by diet modification, including vitamin B12 supplements, probiotics, and antibiotic treatment. Till now 100 cases have been reported.
Werewolf Syndrome
Werewolf Syndrome is also known as ‘Hypertrichosis’.
This is a rare disease characterized by excessive hair growth anywhere on a person’s body. It affects both men and women.
The abnormal hair growth may be on the face or the body or may occur in small patches. This disease is said to run in families.
Genetic mutation is considered the cause of this disease. The life expectancy of people suffering from this disease is quite short; this is between 2-3 years.
There is no treatment for this disease and the temporary treatment is managing the hair removal from those areas.
This can be done by shaving, waxing, plucking, or laser treatment. Only 100 cases have been reported so far.
Pica
Pica is a kind of compulsive eating disorder in which people eat non-food or abnormal food items.
They tend to munch on non-food items like dirt, clay, hair, paint chips, glue, cigarette ash, burnt match, chalk, soap, coins, and feces with relish.
The disease is more common in children but can also occur in adults with intellectual and developmental disabilities like those suffering from autism spectrum disorder and schizophrenia.
Pregnant women who suffer from iron and zinc deficiency can suffer from Pica.
People who suffer from Pica are characterized by broken teeth, stomach pain, and stools containing blood.
Treatment of Pica includes occupational therapy, sensory support, medication for mental health conditions, and dietary changes.
As said, ‘A disease might be rare, but hope should not be.’
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