Angelman Syndrome and Ten Other Totally Strange Diseases

What if what's ailing us is so rare that even this guy can't figure it out?
What if what's ailing us is so rare that even this guy can't figure it out? | Source

"They certainly give very strange names to diseases." - Plato

When it comes to diseases, most of us first think about colds or cancer or diabetes. They're common, we hear about them all the time and we're constantly being told how to avoid getting them.

Some diseases, however, aren't that simple. Some less common diseases, like MS, lupus or Fibromyalgia have an often difficult set of tests before other diseases can be ruled out. Some folks suffer with diseases like these for years before they finally have an official diagnosis.

But what if whatever is ailing us is so rare that doctors may have never seen a case of it during their entire practices?

I was reading an article recently about Colin Farrell who has a son, seven year old James, who has a rare genetic disorder called Angelman Syndrome. There wasn't much information about it in the article, and I was imagining that the poor kid had wings or something.

As I delved deeper, I wondered if there were other extremely rare diseases worthy of investigating and found quite a few. Here are ten of the rarest diseases known to man.

Inspired by this painting, Angelman Syndrome was originally called Happy Puppet Syndrome due to the movements and facial expressions of sufferers appearing as if pulled by a puppet master's strings.
Inspired by this painting, Angelman Syndrome was originally called Happy Puppet Syndrome due to the movements and facial expressions of sufferers appearing as if pulled by a puppet master's strings. | Source

Angelman Syndrome

Angelman Syndrome affects less than one person in 20,000. It was first diagnosed by a doctor named Harry Angelman in England, who originally called it Happy Puppet Syndrome, in 1965. He was presented three disabled children as patients and realized that their symptoms were similar.

Angelman Syndrome is categorized as a genetic disorder and is a result of a malfunction in what is called Chromosome 15, which possibly contains between 700 and 900 genes. It can be hereditary, and may need to have copies of the chromosomal deficiency from both parents.

The signs of Angelman Syndrome can be complicated, but developmental delays, speech impairments, movement and balance issues and a combination of laughing, smiling or a consistent "happy" demeanor are always present. Most people diagnosed with Angelman Syndrome will also have seizures, a smaller than normal head and an abnormal EEG.

Angelman Syndrome is not degenerative, and many people who have it are able to overcome some of the symptoms with therapy and/or medication.

Walking Corpse Syndrome or Cotard's Syndrome

Cotard's Syndrome or Cotard's Delusion is a very real thing. This one is a mental disorder in which sufferers actually believe that they are dead. French neurologist Jules Cotard actually named the disease in 1880 after having patients who exhibited the belief that they were either dead or believed they did not exist.

Some folks who have this mental disorder can also believe that they are immortal of have had all of the blood drained from their bodies. They may also believe that their bodies are decaying.

This disorder may be related to a disconnection in the area of the brain that regulates emotions and associates them with recognition.

Over time, people suffering from Cotard's Syndrome may have their symptoms lessened with a combination of medications, psychotherapy and possibly even Electroconvulsive therapy, previously known as electroshock therapy. Not all recover.

Imagine never being able to feel water on your skin without experiencing excruciating pain.
Imagine never being able to feel water on your skin without experiencing excruciating pain. | Source

Aquagenic Urticaria: An Allergy To Water

Though Aquagenic Urticaria is sometimes referred to as an allergy, it's somewhat of a misnomer. With a standard allergy, like ragweed, the body releases a chemical called histamine which can cause allergic reactions.

Those with Aquagenic Urticaria have a slightly different reaction to water, and sometimes the reaction is specific to the temperature of the liquid. The symptoms are very specific. Rashes or hives will appear wherever the skin has come in contact with water, and often a breathing problem will occur. The symptoms are usually more severe if the temperature of the water is very hot, and some people have extreme adverse reactions to their own perspiration.

Though Aquagenic Urticaria can be treated with medication, the sufferer will most likely have to avoid water as much as possible for their entire lives.

Tree Bark Skin Disorder Also Known As Epidermodysplasia Verruciformis

The Discovery Channel and TLC regularly feature the story of a man from Indonesia named Dede Koswara who has a frightening disease. It's called Epidermodysplasia Verruciformis, and it causes wart like growths on his skin that essentially look like tree bark. The TV series follows Dede though medical visits and even surgeries to remove some of the worst of the growths from his face and hands. The show, called Treeman: Search For The Cure, is a staple of these networks.

Epidermodysplasia Verruciformis, or EV, is actually an auto-immune deficiency that makes people who have it especially vulnerable to skin cancers and the Human Papillomavirus, or HPV, which is carried by as much as 80% of the world's population. Most folks who carry the virus never actually develop the disease, but forms of it are currently being investigated as one of the possible causes of cervical cancer in women. The type of HPV that aggravates EV and causes the skin growths are types 5 and 8. EV is a genetic abnormality and it is hereditary.

Some medications have proven moderately effective in curbing the effects of the disease and anyone who does develop the skin growths should have them surgically removed as soon as possible to avoid the risk of them becoming cancerous.

There currently is no cure for EV.

Stephan Bibrowski also known as Lionel the Lion-faced Man, was a circus freak show performer who suffered from hypertrichosis.
Stephan Bibrowski also known as Lionel the Lion-faced Man, was a circus freak show performer who suffered from hypertrichosis. | Source

Hypertrichosis or Human Werewolf Syndrome

Hypertrichosis, also called Ambras Syndrome but more popularly referred to as Human Werewolf Syndrome or more simply Werewolf Syndrome, is essentially the overgrowth of body hair. In the 1800's people who had this disorder often worked as freaks in side shows.

Two of the most-well known people who had this disease were Stephan Bibrowski, a Polish man pictured right, and a Mexican woman named Julia Pastrana. Both of them did work in circuses and side shows, which today could be considered as exploitation.

Hypertrichosis is a somewhat confusing disease that actually has two forms. First, there is a congenital form of the disease which, obviously, occurs and birth and is genetically inherited. The second is acquired and can be developed with use of specific drugs, development of some cancers and possibly even linked to eating disorders. Hirsutism, which occurs exclusively in women and children, is caused by an abnormally high level of male hormones.

There is no cure for Hypertrichosis, but treating the underlying cause of the disease, whether it be hormonal imbalances or specific environmental causes, often lessens the symptoms.

Methemoglobinemia or Blue Skin Disorder

Not to be confused with those unfortunate folks whose skin turns blue because of their use of colloidal silver which is an irreversible condition called Argyria, an unrelated disease called Methemoglobinemia is actually genetic.

In Eastern Kentucky, generations of one family had blue skin, as “blue as Lake Louise” as one maternity ward nurse remarked. Because of inbreeding throughout the family, this continued for several generations. It wasn't until Benjamin Stacey was born in 1975 that doctors finally figured out the secret of the “Blue Fugates of Troublesome Creek.”

Their blue skin was caused by an excessive amount of methemoglobin in the blood causing it to appear to be blue. As the blood ran under the capillaries under the skin, it took on a bluish tint.

Methemoglobinemia, which results from recessive genes, can be treated with oxygen and intravenous delivery of a solution called Methylene blue, which restores iron to the blood thereby giving it back its red color.

Is this guy just really flexible, or is it something else?
Is this guy just really flexible, or is it something else? | Source

Ehlers-Danlos Syndrome

You know those people you see in the circus that can contort themselves into crazy positions? Not all of them are double jointed - some of them actually have a genetic disorder called Ehlers-Danlos Syndrome.

There are many different versions of Ehlers-Danlos Syndrome and a whole slew of symptoms. They almost always include hyper-flexibility of the joints and the skin as well.

There are some pretty serious issues, though, like low bone density, chronic degenerative joint disease and an early onset of osteoporosis. This disease can also cause varicose veins, extreme nearsightedness, and potentially life threatening vascular issues.

There are no cures for any forms of this disease, which is genetic, but treatment of individual symptoms has had some success.

Stone Man Syndrome or Fibrodysplasia Ossificans Progressiva

Fibrodysplasia Ossificans Progressiva is very rare, affecting less than one in two million people, and is a disease of the connective tissue. A mutation in the genes causes any injury to the muscles or tendons to solidify in a process called ossification.

As a fetus develops in the womb, the gene that causes bone growth is working to make sure that the baby grows the correct amount of bones. When the baby is fully formed, the gene turns itself off, except in the case of Stone Man Syndrome.

Sometimes children who are affected by this disorder do show symptoms at birth in the form of unusually shaped big toes. The beginnings of Stone Man Syndrome usually occur before the age of ten and can be exacerbated by injuries.

The most famous cause of Fibrodysplasia Ossificans Progressiva was Harry Eastlack, who, by the age of forty, was nearly completely "turned to stone." The only parts of his body that he could move were his lips. His skeleton is now on display at the Mütter Museum, as he donated his body to science to help find a cure for the disease.

There is currently no cure nor definitive treatment for Fibrodysplasia Ossificans Progressiva. Any surgery to remove extra bones results in even more bony growth around the surgical site.

This child has been diagnosed with Progeria.
This child has been diagnosed with Progeria. | Source

Hutchinson–Gilford Progeria Syndrome

This is another disorder that has gotten some exposure due to television programs and their investigations.

Hutchinson–Gilford Progeria Syndrome, often recognized simply as Progeria, is a genetic defect that causes premature aging. Progeria occurs in one in eight million live births, and the disease quickly progresses. Those who have been diagnosed with this disease are not likely to live past the age of thirteen.

People with Progeria have characteristic facial similarities, namely a larger head, small, recessed eyes and pinched noses. The disease does cause extremely fast aging, at a rate of about eight times that of someone who is not affected. By the time someone with Progeria is ten, their bodies are similar to that of someone in their eighties and they have the degenerative issues that an octogenarian would have. Most lose their hair, some have age related wrinkling and many have joint issues as well as arthritis and heart conditions.

There are currently no effective treatments or cures for Progeria.

Fields' Disease

This is the rarest disease ever discovered. Fields' Disease is so rare that only two people on the planet have or have been known to have it - and they're twins.

Catherine and Kirstie Fields, of Bryn, Wales, began to have stability issues when they were four. Testing found an as-yet unidentified neuromuscular disease that causes the twins' muscles to degenerate. Because diagnostic testing matched no other known diseases, their specific host of symptoms is currently referred to as Fields' Disease.

Catherine and Kirstie are now about eighteen years old, and there are no definitive answers for them yet. The disease is progressing, to the point that both twins are now in wheelchairs and are unable to speak. Doctors do not give the twins much longer to live but do not know at exactly what point the disease will terminally affect their internal organs. According to reports, the twins' brains are not currently affected.

Doctors also do not know if Fields' Disease is a genetic mutation or if it has some unknown environmental cause. There is also no way to know if either of the twins would pass it on to their children if they are able to have them.

In some places, crying tears of blood is considered a religious experience.
In some places, crying tears of blood is considered a religious experience. | Source

Haemolacria or Crying Tears of Blood

This one sounds like it's right out of a horror novel, but it is very true. Some folks have a disorder called Haemolacria. When they cry, their tears partially consist of blood.

Haemolacria rarely occurs by itself, it is usually a symptom of another disease. It could be caused by forms of conjunctivitis, or it could appear in women who have endometriosis which causes the body to have extra estrogen. It can also be caused by a tumor in the tear ducts.

There have been several documented cases of Haemolacria mainly in India. One woman, Rashida Khatoon, actually faints when she cries these tears.

© 2012 Georgianna Lowery

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Comments 14 comments

carol7777 profile image

carol7777 3 years ago from Arizona

Pretty creepy but interesting to read about. I had heard about several of these. You did your research and put together a very good hub...even though it was a little scary. Voting UP++

billybuc profile image

billybuc 3 years ago from Olympia, WA

Really fascinating Georgie! I have learned about more stuff on HubPages than in all of my education to date. I have actually heard of a couple of these diseases, but most were news to me. Great job on your research.

dinkan53 profile image

dinkan53 3 years ago from India

I just wanted to comment and say that I really enjoyed reading your article here. It was very informative. This article has added more useful information to me and thanks for sharing.

innerspin profile image

innerspin 3 years ago from uk

Very interesting read, Georgie. Reminds us all how important our health is. It must have been hard for some of these people to get a diagnosis. Thanks for the information.

Georgie Lowery profile image

Georgie Lowery 3 years ago from Slaton, Texas USA Author


This one took a while to write, and I had to narrow the syndromes and such down to ten. I don't know why, but I find them all fascinating!


I've learned a ton on HP, too, and I'm learning more every day. I don't think there's any other place that has all the elements of this site!


Thank you, I appreciate it! :)


I really do feel for people who know there is something wrong, but don't have any idea what it is. It must be terrifying!

Thank you for the comments and the votes! :)

SoundNFury profile image

SoundNFury 3 years ago from Los Angeles, CA

Awesome! Especially the one where people believe they are dead! I love strange things like this. Voted up!

rfmoran profile image

rfmoran 3 years ago from Long Island, New York

Tremendous research and a very good job of writing. This is one of the more fascinating hubs I have read in a long time. It's amazing that there are such strange syndromes. Usually we never hear about them unless they affect someone famous or the family of someone famous.

mpropp profile image

mpropp 3 years ago from Minnesota

Another very interesting article. I have seen a couple of the TLC shows featuring some of these rare diseases but several of them were new to me. Fascinating! It makes you really appreciate your own health and your family's health....

shiningirisheyes profile image

shiningirisheyes 3 years ago from Upstate, New York

There are a few I've heard of some what, but I am so sympathetic to individuals suffering such rare disorders. I am allergic to iodine (seafood) and have no problem removing from my world however, I can not imagine having to stay clear of water. Those poor souls whoa re convinced they are dead - what an awful existence.

You always manage to find the most unique subjects.

faithbuilder23 profile image

faithbuilder23 3 years ago from Pennsylvania

Very informative!!! Keep writing!!!

Schatzie Speaks profile image

Schatzie Speaks 3 years ago from US

Very interesting hub. It is sad that some of the diseases have no cure, such as the one in which 13 year olds develop arthritis and die from old age. That must be very traumatizing for a child. Hopefully they make some progress and find some cures!

ziyena profile image

ziyena 2 years ago from Southern Colorado

Very interesting Georgie. I myself might be looing into extensive testing for a possible issue as well, but thank God it's a known issue that can be treated if necessary. I didn't know about Colin Ferrel's son ... how special that he has been gifted with an angel. :) Thanks for the informative hub and UP!

Cassidy 2 years ago

awesome list! ive heard of fields codition before! i feel sorry for people who are allergic to water tho.and the people who think they are dead.

Kapele Patricia Chisha 19 months ago

Very informativeb!!! It makes one sit down and Thank God for a fine life . Thankyou

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