Our body is weird. Even with the technological advancements in the field of medicine, there are still unexplored processes, unexplained diseases and uncharted conditions. How do you define rare diseases then?

The European Organization for Rare Diseases defines a disease as “rare” if it has a prevalence of 1 in 2000 people or less. In the USA’s National Organization for Rare Diseases, it is defined as rare if it affects less than 200,000 people in the population. Australia’s Therapeutic Goods Authority says that once this disease affects 1 in every 10,000 people or less, then it can be described as rare.

So far, the Internationale Classification of Diseases coded a maximum total of 14, 999 diseases and is being updated regularly. Out of these, according to TGA, there are 8,000 known rare diseases, 80% of which affect children and may continue to affect them until they grow old. Most of these have no cure but can be prevented. Following this, Australia’s National Rare Diseases Working Group devised a National Plan for Rare Diseases which is in effect today.

10 Rare Diseases from Around the World

#1 Progeria – 13 Going 80

Have you ever watched the movie The Curious Case of Benjamin Button? In said movie, Benjamin was born looking like a very old man. When he grew up, he turned younger. In real life a rare disease like Benjamin’s does exist. A child can be born with the physical form of an elderly person. However, unlike the movie, people with Progeria do not become young through the years. Instead their aging is accelerated.  It affcets one in eight million children.

Children affected with Progeria may have normal intellectual and motor skill development, they just look old and in no time they may exhibit symptoms of aging like thinning bones, heart disease, arthritis and baldness. Pictured below is Sam Berns, an inspiration to all after his documentary was aired on HBO: Life According to Sam.

sam bernsSam Bern is pictured here with his parents who are both doctors. He sadly died in January of this year at the age of 17. photo: Fine Films

 #2 Methemoglobinemia – Blue Skinned People

A rare case of a blue skinned man appeared in the media recently featuring Paul Karason. Karason acquired the blue tinge in his skin after taking colloidal silver to treat a dermatitis condition. People with Methemoglobinemia on the other hand are born with the blue skin and this is due to genetics.

The Blue People of Troublesome Creek is a detailed account about the Fugate family from Appalachia in Kentucky. The family have hemoglobins that are unable to carry the needed oxygen or release it to the tissues. Due to the lack of oxygen, the skin turns blue or even a colour close to purple. Back then, intermarriage among relations heightened the chances of children acquiring the condition although not all children of the family would be blue skinned.

ht_fugate_family_blue_people_ll_120217_wmainAn old and colorized photo of the Fugate family. Over time these family genes were diluted and blue people are rarely seen. photo: abcnews.go.com

#3 Human Werewolf Syndrome

Human werewolf syndrome or hypertrichosis is the condition wherein a patient grows dark hairy patches on the face and on other parts of the body. It is known to be caused by genes but sometimes it may develop later in life. Those who acquire it in their latter years may find the culprit to be drug side effects, cancer associations or due to eating disorders. Hypertrichosis is differentiated from hirsutism which is caused by excessive male hormones.

Hypertrichosis is very rare and there have only been 50 verified cases since the middle ages. In the past, those who were affected by the condition found work in circuses and sideshows. Today, it can be treated through regular shaving and laser treatments.

 hypertrichosis-jpgPhoto: Glogster

#4 Blaschko’s lines – Skin Stripes

Blaschko’s lines are often invisible but they appear once a skin disease manifests in the patient’s body. The stripes follow the migration of embryonic cells in the body. These patterns are often observed on cats and dogs.

Blaschko2Photo: gpnotebook and biomedcentral

#5 Congenital Analgesia – Feeling no Pain

Congenital Analgesia has only had 20 known cases. The condition is characterized by a persons inability to feel pain. This lack of pain awareness is hereditary. Kids who have this condition often get unnoticed bruises, wounds, broken bones and other problems since they can’t feel the pain. These wounds and health problems may go on undetected which can pose big health risks later on.

People with the condition often have an accompanying condition of anosmia or loss of sense of smell and they have a shortened lifespan. However, due to awareness of today’s patients, more are becoming aware of the interventions that can be done to help ease the burden this condition may bring.

congenital analgesiaSteven and Paul recount their battle against their condition through their website painlesspeople.

#6 Porphyria – Vampire-like Syndrome

People with porphyria experience painful skin redness and blisters when they are exposed to sunlight. They have oversensitivity to sunlight and the sun’s heat. Over time, their gums starts to recede which emphasizes the incisors and gives the appearance of fangs. Sometimes patients may experience pain when they eat garlic. These are all caused by the build up of porphyrins that disrupts the body’s heme production. Since they match the legends of vampire stories, the syndrome came to be called Vampire syndrome.

Porphyria is hereditary. There is still no cure for this but the condition is manageable through constant blood transfusion.

vampire like Simon and George, brothers, suffer from these rare vampire-like syndrome. photo: dailymail

#7 Elephantiasis: Enlarged Members

People who acquire the condition of lymphatic filariasis may find themselves growing arms and legs in huge proportions. This is caused by parasitic worms that are transmitted by mosquito bites. It’s weird but it’s not that rare since it affects more than 120 million people worldwide. These parasitic worms accumulate within the blood vessels. This results in circulation restriction and fluid build-up in nearby tissues. The symptoms may not appear at the moment of infection, rather, it may take years before it can be detected.

(No photo will be posted, too graphic.)

#8 Jumping Frenchman Disorder

The first recorded case of this condition was identified in the old time lumberjacks of Maine. These people, particularly of French-Canadian Origin exhibited symptoms of extreme surprise or extreme startling when faced with an unexpected noise or even a sight. Once they are startled, the affected person may repeat words, cry out and even flail their arms.

This condition of course isn’t geographically limited to Maine. It has cases reported in other parts of the world too.

Bunkh

#9 Walking Corpse Syndrome

Have you ever felt like a zombie? Well, this isn’t just a homage to a popular TV series but is a real medical condition. People with walking corpse condition believe that they are dead. Often, they are mentally depressed and are suicidal. In many case, patients complain of losing limbs or other parts of their body, even their whole body as well as material possessions. These delusion are often caused by chronic sleep deprivation or amphetamine psychosis.

Most sufferers of this syndrome greatly believe that they are immortal, although they feel they are dead.

maxresdefaultphoto: youtube

#10 Trimethylaminuria – Fish Odour Syndrome

If you think that being expsoed to fish is the only way that you can emit that fishy smell, then you are wrong. There is a medical condition called Fish Odour syndrome wherein the suffer emits a very strong fish smell in their breath, sweat and urine. This is caused by a metabolic disorder wherein the body fails to normally produce FMO3, a flavin enzyme. This too, like the condition mentioned above, is hereditary.

health-091511-002-617x416photo: redorbit

#11 Eosinophilic esophagitis – Allergy to all Foods

Food allergy is common. Every one of us may have some kind of reaction to specific foods at some point of our lives. However, there are also those who have a constant allergic reaction to certain foods all throughout their life.

In an extreme case called Eosinophilic esophagitis, an allergic person may exhibit allergic reaction to literally all foods. People who have this experience oesophagus swelling whenever they swallow food. Then white blood cells called eosinophils appear in the oessophagus, which is a very rare case. In some cases, people and kids with this condition may have allergic reactions even to food smells. Sufferers may need to feed through a tube that goes directly to the stomach.

 

featured image: D Sharon Pruitt

About Author

Roelen researches, creates, tailors content for outreach and content promotion campaigns as well as social presence management. She likes poetry, blues, The Walking Dead and crime books.