HAEMOCHROMATOSIS

Haemochromatosis is a common hereditary disease which causes the body to absorb too much iron from food. Since the human body has no way of eliminating excess iron, it builds up in the skin, eyes and organs eventually resulting in a bronzed appearance and organ failure if maintenance treatments aren't begun.

The disease is especially prevalent among Irish and other Northern European races with an incidence of 1 in 200 people.

There is no routine test for Haemochromatosis. A diagnosis is typically made after other, standard liver enzyme tests come back with abnormal levels. People experiencing diabetes, extreme fatigue, heart disease, impotence or joint disease OR who have family members diagnosed with Haemochomatosis should be directly tested for the ailment.

Haemochromatosis is not usually diagnosed until the age of 40 in men and until after menopause in women. It takes that long for the iron to build up to symptomatic levels.

The only effective treatment for Haemochromatosis is for the patient to have regular phlebotomies (blood letting). Since the iron gets stored in the blood, removing the iron rich blood forces the body to produce new, iron-weak blood. 1-4 phlebotomies per year will prevent the iron from building up to dangerous levels. The reason that women don't show symptoms until after menopause is that menstruation is an effective blood letting treatment which keeps their iron saturation low.

Since this sick is extremely treatable and rarely deadly, but since its only treatment is blood-letting, I give it a

1 on my "lethality scale" (1-10)

and a 2 on my "disturbing scale" (1-10)

TRIMETHYLAMINURIA

This sick is definitely fishy!

Trimethylaminuria (Fish Odor Syndrome) is a hereditary, metabolic disorder which renders the body unable to properly break down the compound trimethylamine from foods. This inability to breakdown the compound causes the chemical to build up in the system and to be released via sweat, urine and breath giving off an intensely unpleasant fishy odor.

There is no cure for the disease. Some studies have shown that ingesting copper or charcoal on a daily basis can reduce or eliminate the odor, but results are mixed. Limiting the consumption of foods which break down into trimethylamine can also be helpful, but these dietary restrictions are difficult since so many foods break down into the chemical.

Trimethylaminuria is not life threatening, but it has an extreme impact on quality of life. The odor is so intense that it can cause major disruptions in a victim's social life, leading to depression.

This sick gets a
1 on my "lethality scale" (1-10)
and a 3 on my "disturbing scale" (1-10)

PROTEUS SYNDROME

Named after the sea-god Proteus, Proteus syndrome is an extremely rare (200 cases since the disease was isolated in 1979) hereditary disorder that causes uncontrolled growth of bones, muscles, tissues, skin and lymphatic vessels leading to severe disfigurement as the disease progresses.
Victims of Proteus Syndrome are born with a completely normal appearance but as they grow older growths of skin and bone begin to alter their appearance and cause health complications.
Affected individuals may die early due to complications from extraneous tissue and bone growth. Sometimes, the very mass of the tumors can end their lives. For instance, the most famous Proteus Syndrome case, Joseph Merrick (The Elephant Man), died when the weight of his head broke his neck while he was sleeping.
Scientists are still trying to figure out what causes Proteus Syndrome, but there is some evidence that it is linked to the PTEN gene on either chromosome 10 or chromosome 16.
There is no prescribed treatment, but there has been some success treating the illness with Rapamycin.

Due to the horrible disfigurement this disease causes and the fact that it often leads to early death, I give this sick a
4 on my lethality scale (1-10)
and a 10 on my disturbing scale (1-10)

CIPA

Congenital insensitivity to pain (CIPA) is one or more rare conditions where a person cannot feel (and has never felt) physical pain, though their experience of other sensations is normal.

This condition is extremely rare, only affecting 1 in 125,000,000 births. It is more prevalent in homogenous populations, where interbreeding is thought to trigger the defect.

There are times when the condition is caused by increased production of endorphins in the brain, in which case naloxone may be used as treatment. However, this treatment is not always effective.

The major danger to people with CIPA is self-injury. Since they don't feel mouth pain, they sometimes bite off their own tounges or wound their teeth and gums. In addition, they don't automatically reposition themselves when sitting or sleeping which can cause stress injury.

Lethality Rating: 2

Disturbing Rating: 3