Rare diseases are those that affect only a small percentage of the world’s population, with scientists struggling to find causes and cures. Most rare diseases are genetic and many of them appear early in life. Awareness can be a problem, but there is a Rare Disease Day which is observed on the last day in February, in the U.S., Canada and Europe. Read on to see our list of some of the rarest diseases in the world.
10. Hutchinson-Gilford Progeria Syndrome (HGPS)
Otherwise known simply as Progeria, this disease is caused by a fatal genetic mutation that results in rapid aging, beginning in early childhood. The life expectancy averages at 13 years, with approximately 100 documented cases where patients lived until their twenties.
9. Kuru
Discovered only in a remote region of New Guinea among the Fore tribe and closely related to mad cow disease, Kuru is caused by prions, which is a protein that encourages build-up of abnormal brain tissue that results in irreversible brain damage. 100% lethal, it’s brought on by the consumption of human brains that contain the infection. The Fore tribes practiced cannibalism prior to the 1950’s to preserve the spirits of the dead, but it is now outlawed.
8. Fibrodysplasia ossificans progressive – Stoneman’s Disease
Also known as FOP, Stoneman’s Disease is extremely rare and is caused by a mutation in the body’s repair system that causes muscles, ligaments and tendons to harden spontaneously (or after fibrous tissues have been damaged), resulting in permanently frozen joints. The story of Jeannie Peeper, a women who was born with FOP in 1958, is worth reading.
7. Morgellons
An unexplained skin disease that some experts believe is psychosomatic is Morgellons, which involves black hairs or strange fibers on or under the skin, accompanied by painful skin sensations. Fringe communities such as alien and UFO enthusiasts believe the condition to be linked to extraterrestrial activity, although it is believed to be caused by issues related to anxiety and psychological disturbances.
An unrelated condition associated with black hairs was first mentioned in the 1600’s in France. In 2001 a mother from Pennsylvania named the disease after discovering that her young son suffered from the condition, but doctors came to believe that she herself was suffering from a condition known as Munchausen Syndrome by Proxy, where the parents fake illnesses in their children to gain attention from medical practitioners.
6. Methemoglobinemia
Also known as blue skin disorder, Methemoglobinemia occurs when elevated levels of methemoglobin affect how oxygen and ferric iron act in the blood. This results in the reduced ability of red blood cells to release oxygen to the tissues and can lead to seizures, abnormalities in the heart, and premature death.
In 1943 the first incidence of Methemoglobinemia was reported in the UK, where 2 members of a family were diagnosed with the condition, however it was made famous when it was discovered that a family in Kentucky had passed on the genetic traits through their 200-year history.
5. Microcephaly
This medical condition affects sufferers from birth or develops within the first few years of their life, caused by under-development of the brain which results in a smaller head size and abnormal facial features, with a range of severity. Those affected by Microcephaly can include conditions such as dwarfism, impaired intellectual ability, seizures, poor motor functions and speech. In the 19th and early 20th centuries, people with this disease were also called ‘Pinheads’ and sold to freak shows.
The genetic cause of Microcephaly was officially discovered in 2002 by an international team of researchers, although the condition may be traced back to Ancient Egypt where a notable dwarf was mentioned who might have been a sufferer.
4. Parry–Romberg syndrome
Also known as progressive hemifacial atrophy, Parry-Romberg syndrome typically affects girls under 15 years of age, where the random areas of the skin appear to shrink or degenerate. Approximately 4 out of 1 million people have this affliction and experts are still debating the cause.
3. Epidermodysplasia verruciformis
Epidermodysplasia verruciformis is also called Treeman syndrome, which is a hereditary skin disorder characterized by an abnormal susceptibility to human papillomaviruses or warts on the skin.
These uncontrolled infections result in scaly growths on the hands and feet, starting around 1 year of age to 20, although it can appear in middle age. The regulation of the distribution of zinc is believed to play a part in this genetic mutation.
2. RPI Deficiency
RPI Deficiency has only three known cases historically, where the patients have a Ribose-5-phosphate isomerase deficiency. This means that they present with diffuse white matter abnormalities that affect the largest and deepest parts of the brain, along with developmental delays and psychomotor regression.
A 14-year old boy was seen by doctors in 1999, and he was exhibiting a developmental delay that included a slowing down of mental and movement activity, brain white matter disease, epilepsy, and a delayed conversion of glucose to fructose. 2 more cases were reported since then, with one of them diagnosed in 2018.
1. Fields’ Disease
There are only 2 known cases of Field’s Disease in the world, named after Welsh twin sisters Catherine and Kristie Fields, which means that Field’s Disease is the rarest disease in the world. A neuromuscular disease that only affects only two out of billions of people, it causes muscular degeneration. The twins use wheelchairs for mobility and use electronic speaking aids. They live with their parents and access assistance through hospice workers, while still being examined by doctors who are researching treatment.
In 1994, when the twins were 4 years of age, they were seen by many doctors who administered countless tests and could not match it to any known disease. With no definitive cause, they reasoned that the sisters were born with it.
Note: This page is not intended to diagnose or offer any medical advice. If you or a loved one are suffering from any serious medical conditions, you should seek care from the appropriate medical professional.
This article originally appeared on Rarest.org.
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