Rare diseases

The blue people of Kentucky

A large family known as the Blue People lived in Kentucky until the 1960’s. They didn’t suffer from any serious illness nor did they die young. They just had blue skin. The (simple recessive) trait was passed from generation to generation. Their only pain was being blue in a world of whites, blacks and in-betweens. The doctors suspected methemoglobinemia, a blood disorder resulting from excess levels of methemoglobin in blood. Methemoglobin is blue and is a non-functional form of red hemoglobin. A researcher injected them methylene blue (seems like a paradox) and within a few minutes, the blue color was gone from their skin – they changed color!

Fish odor syndrome

Due to a mutation of the gene FMO3, people who suffer from Fish odor syndrome have an excessive excretion of trimethylamine (TMA) in urine, sweat, breath and vaginal secretions. Their problem is that they smell like rotting fish. Since the 1970 only about 200 cases have been described.
The chemical TMA, responsible for the revolting odor, is the same that can be transiently present in vaginal secretions during menstruation (you know, that fishy smell during the period).

This inborn metabolic illness is usually discovered when fish is introduced in a baby's diet. The liver cannot metabolize the TMA, which is produced by intestinal bacteria from the chemical choline, present in fish, egg yolk, legumes and other food products.

The psychological suffering of the patients is enormous - it's difficult to lead a normal life, specially for teenagers. The body smell is so offensive, that social contacts seem to be almost impossible. Some people choose jobs where they can be on their own. Others start to smoke to disguise the fish smell. But fish and smoke together...
The unnatural body odor can be reduced avoiding foods that contain cholines.

Acromegaly

This disease most commonly affects adults in middle age and can result in severe disfigurement and premature death. The body produces too much growths hormones. But unfortunately not all parts of the body increase in size. Enlargement of only hands and and feet is very common. Also the jaw and other facial bones can be affected, giving the patient's face a rather unintelligent aspect.

The development of the symptoms is often slow and gradual. So many people do not even notice the changes in their physical appearance. But a familiar visiting his elderly aunt for the first time after 10 years might be surprised when meeting a bawdy ogre instead of a fragile ancient woman.
The man on the photo is Rondo Hatton, actor, who was exposed to poisonous gas in WWI. Acromegaly progressively deformed the bones of his head, hands and feet.

Fatal familial insomnia

Having family members who have been victims of FFI, means that any day, usually when you're around 40 - 60 years old, your body doesn't allow you to sleep anymore. Your mind dies, and after some months, your body, too.
Fatal familial insomnia is a rare inherited prion disease (a prion is something like a killer protein that affects your brain) that interferes with sleep and leads to mental and physical deterioration until death occurs within a few months or years. Have you ever stayed awake for one or two night? If you remember the physical sensation when you're back at work in the morning - imagine being deprived of sleep forever from now on! Sleep deprivation has also been a common torture method for centuries.
The first symptoms are minor difficulties falling asleep and occasional muscle twitching, spasms or stiffness. Eventually, the sufferers cannot sleep.
The disease has been identified in only about 40 families worldwide, most of them concentrated in very specific regions, such as the Spanish basque country.

Man without face

Many cases of people with massive growths in face and body have been described. One of them is José Mestre, from Lisbon who developed a tumor that took over his face completely. He was born with nothing more than a red-colored birth mark on his under lip. The face started growing at puberty and has now reached a weight of 3 kg. When the tumor was still quite small, he refused to have surgery due to religious beliefs and lack of finances. Now, after 51 years of carrying thegrowing tumor, it would be almost impossible to remove the massive growth and reconstruct the face.

José Mestre was born with a face and lost it. Other’s are born without face and, with the help of modern science, are fighting to reconstruct something that at least reminds of a human visage. In the video, little Juliana Wetmore, who was born with 30 to 40 % of the bones in her face missing.





Odine's curse

Ondine was a water nymph, who’s mortal lover swore to her that his “every waking breath would be a testimony of his love”. The romantic Adonis shared his bed with another lady and Odine cursed that if he should fall asleep, he would forget to breathe.
That’s the great obstacle in the life of people who suffer a disease called “Odine’s curse” (without having cheated on the aquatic and vengeful lady).
People afflicted with this congenital disorder stop to breathe during sleep due to an inborn failure of autonomic control of breathing. For them, breathing is a conscious action – impossible to perform while asleep. Patients require a lifetime mechanical ventilation. But the disease is often not recognized in the first months of life and most of the victims don’t survive infancy.

Foot in brain

About a year ago, a boy named Sam Esquibel was born in the United States. At the age of three days he was operated after what looked like a microscopic tumor had been found on an MRI scan.
The doctors were removing the growth when they couldn’t believe their eyes – they found a nearly perfect little foot and a partially formed second one inside the infant’s brain. They reported that it looked like a delivery of a baby out of a babies brain.
Sometimes, in the womb, a twin begins to form within a foetus. Another explication is that sometimes cells can “get confused” and differenciate into tissues they are not supposed to. But such growth, called “teratomes” are usually much less complex than a foot or hand.



Alien hand syndrome

A pacient suffering from this neurological disorder is unable to control the movements of one of his hands even thought he or she has full sensation in the affected limb. The hand is not felt as part of the body and becomes personified, with a will of its own.
The cause can be a brain surgery or a trauma. Depending on the injury, the movements of the alien hand may be random or have a purpose and may interact or not with the other hand, being dominant or non-dominant.
When the syndrome is the result of a brain tumor, it is possible that the alien hand starts to engage in complex and purposeful behaviors. A case has been described, where, while the patient buttoned his shirt, the alien hand undid the buttons.
Sometimes the sufferer is not aware of the action of the strange limb, until it’s too late. It’s like sharing the body with a naughty stranger. Some patients start to hate their hands because of its unacceptable behavior.





Progeria

Premature senility is a severe genetic condition. It occurs in one per 8 million live births. They usually die at the age of 10 to 15 of heart failure. At that age, the victims have the physical condition of an 80 year old.
Some of the first symptoms is the poor weight gain, a physical growth failure and a localized scleroderma-like skin condition. At the beginning of puberty they usually have the aspect of a fragile, elderly person, with typical symptoms such as alopecia, wrinkled skin or atherosclerosis.
Most of them age eight to ten times faster than an average person.





Human horn growth

Cutaneous horns are rare, keratinous skin tumors with the aspect of horns, wood or coral. Most of them are small, but in rare occasions they can actually look like an animals horn.