Angelman Syndrome and Ten Other Totally Strange Diseases
"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.
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.
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.
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.
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.
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.
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.
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.
If You Are Thinking Of Donating To Research Or Would Like More Information
- Welcome to The IFOPA
- Progeria Research Foundation | Home
The mission of The Progeria Research Foundation is to find treatments and the cure for Progeria and its aging related disorders.
- Angelman Syndrome Foundation, Inc. – Research, Genetic Counseling, Diagnosis, Seizures, Angelmans Sy
Angelman Syndrome Foundation, Inc: The Angelman Syndrome Foundation’s mission is to advance the awareness and treatment of Angelman Syndrome through education and information, research, and support for individuals with Angelman Syndrome, their famili
© 2012 Georgianna Lowery