Rare Disease Day: Top 10 Rare Diseases In The World

By Staff

The last day of February every year is observed as the Rare Disease Day to increase awareness of certain bizarre and mysterious diseases that affect a small percentage of people around the world, but which still do not have a viable cure.

Since most of these diseases are genetic in nature, the aim of this day is to bring in more funds for the ongoing research for curing these diseases.

So here's everything you need to know about the top 10 rare diseases in the world.

Caution: Some of these pictures are very disturbing.


1. Progeria

Also known as Hutchinson-Gilford Progeria, this rare genetic disease (less than 5000 cases every year in India) was the subject of a famous Bollywood movie starring Amitabh Bachchan, Paa.

It is caused by the random genetic mutation of the lamin A gene (LMNA) and causes the affected newborn to age so rapidly that by the time they are 14 years old, they usually die due to old age diseases like atherosclerosis, heart failure, stroke, and hypertension.

There is no cure for this disease.

Image courtesy: Progeria Research Foundation


2. Field’s Disease

The Field's disease is so rare that there are only 2 recorded cases of it in medical history - the twins, Catherine and Kirstie Fields, after whom the disease was named.

It's a neuromuscular disease that causes rapid degeneration of the muscles of the bodybut does not affect brain development.

The twins suffering from this disease are still alive today (they are 22 years old now), but they require wheelchairs, electronic speaking aids, and nurses to tend to them every day.

Doctors have no idea how to cure this disease.

Image courtesy: Wales Online


3. Fibrodysplasia Ossificans Progressiva

This is a scary genetic disease that causes the connective tissues of the body, like muscles, ligaments, and tendons, to ossify (become bone) over time. This leads to painful disfiguration of the body with bony projections in places there should not be any bone.

The worst part is, whenever surgeons try to get rid of these new bones, the patient's body produces even more at the site!

There is no cure for this disease.


4. Morgellons

This disease is so mysterious that a lot of doctors still do not believe it to be a real disorder.

It is characterized by itching, stinging rashes all over the body that have no known cause and that give a feeling as if something is biting and crawling underneath the skin. The symptoms also include the presence of filaments sticking out of the skin, memory loss, fatigue, and joint pain.

There is no cure for this disease.


5. Paraneoplastic Pemphigus

Pemphigus is a rare autoimmune disease characterized by development of watery, painful bullae (large blisters) on the skin and mucous membranes of the body and the presence of an underlying lymphoproliferative tumor.

90% people suffering from this disease die because of sepsis, multiorgan failure, or cancerous transformation of the underlying tumor.


6. Microencephaly

This is an extremely rare disease where a child's brain fails to develop in the womb because of exposure to radiation and other traumatic factors.

Sometimes this failure can be partial so the child is born with a relatively smaller head than average. But other times the brain fails to develop completely, giving rise to a newborn without a brain and a flat skull.

Children suffering from this disease are always mentally retarded.


7. Von Hippel-Lindau Disease (VHL)

This rare disease causes tumors to grow all over the body, especially in the central nervous system (brain and spinal cord). And though these tumors are benign in nature, if untreated, they can precipitate a stroke or a heart attack, leading to death.


8. Methemoglobinemia

A rare disease of the blood, methemoglobinemia is characterized by an abnormal amount of methemoglobin in the blood (10 - 20% as opposed to the normal value of less than 1%). This reduces the oxygen-carrying capacity of the body and causes the affected individual's skin to turn blue.

People suffering from this disease have a high risk of dying early due to cardiac abnormalities, like an enlarged heart, or other cardiovascular disorders.


9. Necrotizing Fasciitis

Necrotizing fasciitis is a rare and severe infection of the skin and connective tissue caused by multiple flesh-eating bacteria, the most common of which is the methicillin-resistant Staphylococcus aureus.

25% of people who contract this disease end up dead because of the severe destruction of their bodily tissues.


10. Wolman Disease

This is another extremely rare disease that affects newborns. It's characterized by excessive diarrhea, swelling of the spleen and intestines, malnutrition, fever, and developmental delays.

Children who have this disease rarely reach puberty as they usually die due to organ failure.

Let's Raise Some Awareness

It might be fascinating to learn about such bizarre and mysterious diseases, but there are people around the world who have to live with it day in and day out.

So if you enjoyed reading this article, please share it so more people can read it become aware of rare diseases on this Rare Disease Day.

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