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The coronavirus has dominated the medical landscape for two years now. But COVID-19 is not the only disease we should be wary of. There are more than 6,800 known rare diseases with unknown causes. Many of these rare diseases lack a cure or effective treatment.

 

#1: The Hutchinson-Gilford Syndrome

Also known as progeria, the Hutchinson-Gilford Syndrome is a progressive genetic disorder that causes children to age rapidly, starting in their first two years. Babies born with the Hutchinson-Gilford Syndrome appear normal at birth but manifest symptoms during their first year. 

Symptoms include slow growth, joint abnormalities, kidney failure, brittle, fragile bones and hair loss. The main causes of death for children with Hutchinson-Gilford Syndrome are heart problems or strokes. However, some children may live up to 13 or 20 years. The Hutchinson-Gilford Syndrome affects about one in every 8 million children

 

#2: The Stoneman Syndrome

Also known as fibrodysplasia ossificans, the Stoneman Syndrome causes connective tissue such as tendons, muscles and ligaments to slowly turn into bone. The Stoneman Syndrome symptoms can be confused with fibrosis or cancer. 

The disease will start from the neck to the shoulders and gradually reach the lower parts of the body and the legs. People suffering from this disease find it hard to open their mouths and experience eating and speaking difficulties. No treatment options are available for this rare disease. One in two million people are diagnosed with Stoneman Syndrome.

 

#3: Alice in Wonderland Syndrome

Approximately 10-20% of the population are affected by the Alice in Wonderland Syndrome, which resembles the events experienced by the character of Alice in Lewis Carroll’s famous story. People suffering from this disease experience distortion of visual perception.

 

#4: Kuru or Laughing Death

This rare disease, exclusive to the Fore people of New Guinea, hit the headlines in the 1950s. Patients experienced a sudden burst of maniacal laughter. Tests on the deceased showed the emergence of holes in the brain, known as swiss-cheesing. Patients begin to sway and stumble, lose the ability to stand, become cross-eyed and lose the power of speech before death.

 

#5: Aquagenic Urticaria

Also known as water allergy, Aquagenic Urticaria has affected only 30 people. This disorder occurs late in life due to a hormonal imbalance brought about by giving birth. Some patients develop a painful burning rash after drinking water or getting caught up in the rain. This disease is not strictly an allergy but a hypersensitivity to the ions found in non-distilled water.

 

#6: Black Urine Disease

Alkaptonuria or black urine disease is an inherited health condition that prevents the body from breaking down two protein building blocks or amino acids: tyrosine and phenylalanine. The result is the build-up of a homogentisic acid in the body, turning urine and parts of the body dark. People suffering from this disease have a lesser quality of life, although they can still have an average life expectancy.

 

A Parting Reminder

There are more than 6,800 known rare diseases worldwide with unknown causes and ineffective treatment. Although rare, some of these diseases can affect each and every one of us. Remember to schedule an appointment with your doctor if you feel something is not right with your health.

Ann Y
Ann Y