A few of these films were very popular amongst moviegoers and are critically-acclaimed works, while others were generally overlooked by the public; mere blips on the radar. Still, each of these films is worth seeing. They are sure to change your perspective for the better in the way you view and discuss serious, yet little known, rare diseases and disorders.
Originally, it was mistakenly thought that the elephant suffered from neurofibromatosis, a condition in which tumors grow on nerve tissue. The elephant man, in contrast, did not have the brown spots characteristic of neurofibromatosis, and instead, X-ray and CT studies of Merrick performed in 1996 revealed that his tumors grew from bone and skin tissue, the hallmark of Proteus syndrome.
Of note is that is that Merrick lived from 1862 to 1890, but Proteus disorder was not identified until 1979. It’s likely that there are a number of rare disorders present today which will be identified and understood further in the future.
Adrenoleukodystrophy is a hereditary disorder, inherited in an autosomal recessive pattern linked to the X chromosome. As such, the disorder occurs only in boys. Learn more about patterns of inheritance in genetic disorders.
The disease is progressive, involving the degeneration of myelin, similar to some other diseases such as multiple sclerosis. Myelin acts like the coating over an electrical cord, and when this “coating” is destroyed, the spread of information across the nerve is slowed.
There are a number of ways in which these tics occur, but the way it is commonly portrayed in the media—with obscene words and gestures—is actually very uncommon.
Thankfully there are now a number of treatments available which can help these people—who often face Tourette’s during the angst of adolescence to boot.
Morquio syndrome is inherited in an autosomal recessive fashion is considered one of the mucopolysaccharidoses (MPS), diseases caused by the absence of enzymes required in normal metabolism. Morquio syndrome is considered MPS IV, whereas Hurler syndrome with which people may be more familiar is considered MPS I or II. The disease has many features ranging from bone and joint abnormalities to heart defects to corneal clouding, and more.
While this movie does not highlight a specific rare disease (although it fits with osteogenesis imperfecta in many ways) it can help raise awareness about several rare and uncommon diseases which involve brittle bones and dwarfism.
Osteogenesis imperfecta is the disease which has been coined “brittle bone disease.” The disease results from a defect in a type of collagen found in bone, ligaments, and the eye, and often leads to multiple broken bones in addition to short stature. There are several different forms of the disease, with severity varying greatly even for those with the same form of the disease. Thankfully, recent advances in treatment, such as those for osteoporosis drugs, is helping to improve the lives of some of these people.
Short stature is referred to as dwarfism when adult height is 4 feet 10 inches or less and has many causes.
In addition to movies which raise awareness of rare diseases, people with some of these conditions have used their condition in a prominent way for the silver screen. An example is John Ryan Evans, an actor with achondroplasia, and his role in many productions including How the Grinch Stole Christmas.
