WILLIAMS SYNDROME

Williams Syndrome is a neurodevelopmental disorder (affecting about 1 in 7,500 births) which causes significant differences in the way the victim looks, socializes, hears, sees and learns. Williams Syndrome is caused by the deletion of 26 genes from chromosome 7. This deletion is what causes the unique physical manifestations common to all Williams Syndrome patients. These traits include:

1. Elfin appearance
2. Low nasal bridge
3. Unusually Cheerful Demeanor
4. High level of sociability
5. Normal or enhanced verbal skills
6. Perfect Pitch - and sensitive hearing
7. Bad Eyesight
8. Widely spaced teeth

People with Williams Syndrome can seem normal and are extremely engaging, but they are mentally retarded and have trouble with normal learning and reading social queues. They are also highly predisposed to anxiety disorders, phobias and some heart problems such as supravalvular aortic stenosis and transient hypercalcaemia. Their extremely sensitive hearing can be traumatic for them.

There is no treatment or cure for Williams Syndrome. It is managed through cardiological evaluations and developmental and psychological counseling.

Since this sick doesn't necessarily lead to an early death, but has some exceptional physical and psychological characteristics I rate 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)

PROGERIA

Progeria is an extremely rare, genetic condition (1 in 4,000,000) which causes exceptionally rapid aging. Children who are born with this ailment usually die by the time they are 13 years old.

Though the disease is genetic, it is not usually inherited. It is a mutation which causes a change to LMNA, a gene on chromosome 1 that is crucial in producing the membrane which surrounds cell walls. It is this change to the cellular membrane that causes the rapid aging seen in progeria patients.

There is no treatment for Progeria. Instead, doctors focus on solving the problems that the disease causes, such as heart disease, through surgery and profilactic measures.

90% of progeria cases die from cardiovascular causes such as stroke or heart attack.

Progeria was first discovered in 1886 by Jonathan Hutchinson. It was also independently documented in 1897 by Hastingls Gilford. The disease's full name is: Hutchinson-Gilford Progeria syndrome (HGPS).

This is a truly devestating illness with 100% mortality over a relatively long period of time.
Its physical manifestations are disturbing and painful to the victim.

So, this sick gets a:
9 on my lethality scale (1-10)
and a 9 on my disturbing scale (1-10)