Have you heard about water allergy or stone man’s disease?
Probably not, because this is one of the rarest diseases in the world.
These diseases are not as common as diabetes or high blood pressure.
Despite being uncommon, such conditions exist around us and can be scary to deal with. In the past few years, the interest in these medical conditions has grown rapidly.
More than 6000 rare diseases in the world affect people of different age groups.
Let’s explore some of the rarest diseases in the world!
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What are Some Rarest Diseases in the World?
February 28 is observed as Rare Diseases Day to raise awareness about rare medical conditions in the world!
Here are some rare diseases in the world that you never knew existed. Such rare medical conditions require more understanding and research to educate people regarding their occurrence, say renowned doctors from Gulab Devi Hospital Lahore.
Hutchinson-Gilford Progeria Syndrome (HGPS) or Premature Aging
Have you ever seen a two-year-old looking like an older guy?
The sight is rare but this happens in the case of Hutchinson-Gilford Progeria Syndrome, one of the rarest diseases in the world.
The children suffering from the condition have protruding eyes, aged skin, as well as suffer from hair loss.
This is a rare genetic condition in which children in their younger years age rapidly. These children appear normal at birth but start developing symptoms later. The initial symptoms of Hutchinson Progeria symptoms are stunted growth and short stature. The condition is progressive.
The cause behind this rare genetic condition is genetic. The prevalence of Hutchinson Progeria syndrome is 1 in 20 million. According to the top reviewed Neurosurgeon in Lahore, Dr. Muhammad Yasir Mukhtar “Children who suffer from the condition have a higher chance of heart stroke or heart attack at a young age. Currently, there is no cure for progeria but ongoing research is opening new gateways to the treatment of the condition. “
Foreign Accent Syndrome (FAS)
This is another uncommon medical condition in which people try to speak in a foreign accent. The condition is all about patients speaking their native language but with a foreign accent.
This accent change occurs through tongue placement changes and intonation while speaking. This is a speech disorder caused by injury to the brain. There are other unidentified disease causes as well.
This is one rare medical condition because there are only 100 people affected by the condition since it was first recognized.
Blue Skin Disorder or Methemoglobinemia
Paul Karason – American resident who was a sufferer of Blue Skin Disorder.
You might have heard about blue-skinned people.
This is because of a rare medical condition known as methemoglobinemia. This makes your blood appear to be blue. People suffering from the condition have blue skin, lips, and nails.
This is one among many rare conditions in the world which is a blood disorder. In this condition, there is an abnormal amount of methemoglobin in our body. Methemoglobin is a form of haemoglobin that makes our blood appear blue.
The cause of blue skin disorder is genetic or sometimes can be due to exposure to some chemicals and drugs. Most people with the condition receive methylene blue for the treatment of the condition.
Water Allergy or Aquagenic Urticaria
You might not believe it in the first place but some people can be allergic to water.
No matter what temperature, water exposure results in the formation of red itchy hives among people. The condition is quite rare because we only have 50 reported cases of water allergy to date.
These people are not only allergic to flowing water but can be allergic to snow, sweat, rain, and even tears. Yes, you heard it right. We still don’t know about the exact cause of the disease but it can be due to a reaction between water and any of your skin components.
The symptoms of allergy usually go on their own but there are also some medications for the treatment of water allergy. Further, limited water exposure is recommended in this case.
Harlequin-Type Ichthyosis
This is another rare medical condition in the world that makes your skin look like fish scales.
Yes, babies born with the condition have thick and hard diamond-shaped plates on their skin. Though this is one of the rare diseases in the world but can be very bothersome because the scaly patches increase the chances of infection and dehydration. With this, there is poor regulation of body temperature.
Advanced medical care is increasing the chances of survival with the condition but there is still no absolute cure for the disease.
A few years ago, there was even a strange case of Harlequin-type Ichthyosis reported from Pakistan in which one foetus in a twin pregnancy was affected by disease and didn’t survive.
Kuru Disease
Next on the list of rare diseases in the world comes Kuru disease, a rare neurological disease.
This condition is usually found in people from a tribal area in Papua New Guinea. The people from this tribe acquired this disease due to a common burial ritual in the tribe. They used to eat the tissues of a loved one after death as a sign of respect. Yes, this tissue eating, especially brain tissue eating, resulted in the transmission of an infectious protein known as a prion.
People who suffer from Kuru disease suffer from loss of muscle control in patients. There is no cure for this rare medical condition and prion-infected brains remain infected for a longer period.
After the practice of eating tissues of dead bodies ended, this resulted in a significant decline in Kuru disease cases.
Stone Man’s Disease
This is another rare but cruel genetic disease.
This strange condition turns the muscle tissues of a person into bones. Stone man’s disease is also known as fibrodysplasia ossificans progressiva (FOP). The only body muscles that don’t turn into bones are the heart muscles, diaphragm, tongue, and other extra smooth and eye muscles.
The formation of these extra bones occurs at joints and restricts normal body movements. The worst part is that the more you try to remove these bones, their growth speeds up. The condition turns a person into a living statue and usually affects 1 in every 2 million children.
Lesch–Nyhan Syndrome
Have you ever seen someone eating their hands or head hitting?
Probably not. But do you know that there is a rare medical condition in which people tend to eat themselves? Yes, this happens in a medical condition known as Lesch–Nyhan Syndrome.
The condition is a rare metabolic disease that results in the excessive production of uric acid in the body, resulting in neurological disability as well as self-harming behaviour in people. Thankfully the condition is quite rare and only affects 1 in every 300,000 individuals. It is also important to know that this condition only affects males and females usually serve as carriers for disease transmission.
Field’s Disease
When we talk about the rarest disease in the world, we can surely name Field’s disease in this.
The reason is pretty clear but we only have two cases of Field’s disease till now. The condition is so far diagnosed in twin sisters Kristie and Catherine Fields. Field’s disease is a rare neuromuscular condition that results in muscle degeneration and is believed to be progressive.
The condition usually affects voluntary muscle movement and they have difficulty performing routine activities. Though scientists are still learning about the condition and are expecting a few more cases as a result of the inheritance of this rare medical condition.
RPI Deficiency – World’s Rarest Disease
This is the world’s rarest disease because we have a single case of RPI deficiency in the world.
RPI stands for Ribose-5-phosphate isomerase which is an important enzyme in a metabolic pathway in the human body.
The condition is quite rare and can result in severe symptoms such as optic atrophy (optic nerve condition), seizures, spasticity (muscle stiffness), ataxia (sudden uncontrolled muscle movement), leukoencephalopathy (reduction in the white matter of the brain), mental retardation and delay in developmental.
The condition is thought to be genetic. The only patient infected with the disease was born in 1984 and since then, we don’t have any reported cases of the disease.
A Word from Healthwire!
This was all about some of the rare diseases in the world. Even though these conditions affect only a smaller part of the population, some people can still develop them. Thus, it is important to keep an eye on your health and acquire medical care as soon as you develop any symptom of a common or rare medical condition.
You can consult the best general physicians via Healthwire to make informed decisions about your health.
