Joseph Merrick had, by all accounts, a short and miserable life in which he was displayed as a carnival attraction called "The Elephant Man." He was always a subject of medical curiosity, but the cause of his condition has remained a mystery. The most likely contender is a recently-discovered genetic condition called proteus syndrome.
Joseph Merrick was born in 1862, and lived only twenty-seven years, most of them filled with a Dickensian amount of misery. The first abnormalities in his growth started when he was a baby. His mother died of pneumonia when he was eleven. He was kicked out of his house by his father and new stepmother when he was seventeen, after being beaten for not earning enough money in his father's shop. He worked for four years in a workhouse before becoming a part of a "carnival of oddities." He was called The Elephant Man, because his condition was attributed to his mother being knocked over by a circus elephant while she was pregnant. He did contact a doctor once but declined to stay in a hospital because, he found, doctors were more ill-mannered than carnival attendees. After being beaten and robbed in a carnival in mainland Europe, he made his way back to an English hospital. There he became a cause célèbre for the last few years of his life. He died deliberately, doctors think, by sleeping on his back, which caused his heavy head to displace parts of his neck and suffocate him.
His fame, and the mystery of his condition, lived on long after he died. Doctors never stopped looking for the cause of his syndrome, combing through his family history, looking for similar medical cases near where he grew up, and then searching around the world for others with the same asymmetrical growth of bones, skin, and organ tissue. Although through the years there were plenty of similar cases, it was only in the 1980s, when film and stage productions of Merrick's life brought him to popular attention once again, that modern medical researchers began to look for the cause of his syndrome.
At that point people were beginning to peer into genetics. In the mid-1980s, researchers speculated that Neurofibromatosis type I caused Merrick's condition. The condition is split evenly between those who inherit it and those whose genes mutate spontaneously. If a certain gene on chromosome 17 mutates, non-cancerous growths develop in the skeletal and muscular system. Like Merrick, people with Neurofibromatosis type I often have especially big growths on their skulls. Unlike him, they tend to have tan spots on their skin, and also have epileptic seizures.
In the early 2000s, a new diagnosis was proposed for Merrick - Proteus Syndrome. The syndrome was first described in 1979, and given the name of Proteus, the Greek deity who could change his form at will. Instead of a possibly inherited gene disorder, this is a spontaneous type of mosaicism. Mosaicism is a condition in which two different sets of DNA are present in the same body. It takes many forms, from different-colored eyes or multi-colored skin, to more difficult health issues.
In Merrick's case scientists think that gene AKT1 mutated, sometime early in fetal development. That one mutated gene in one cell divided and divided, spreading to different areas of the body, making his body a patchwork of cells that had the mutation and those that did not. ATK1 regulates cell growth and division, and the mutation leads to spontaneous bursts of cell growth. How dramatic and damaging the growth is depends on what period during fetal development the mutation happens. If it is relatively late, and the cell doesn't get a chance to divide and spread throughout the body, it can be very minor. In Merrick's case, the gene mutated early and spread to many parts of his body. As a result, he was affected in many areas, though he was somewhat lucky in that the disorder didn't cause growth in his heart or nervous system, which might have killed him very early in life.
Although genetic tests done on Merrick's skeleton were inconclusive, he had certain specific characteristics of Proteus Syndrome. The tissue growth, which continued for as long as he lived, was extensive. But it seemed to entirely skip certain areas of his body. The growths were much heavier, overall, on the right side of his body than they were on the left side - and this bodily asymmetry is one of the signs of Proteus Syndrome. The onset of the syndrome, between six and eighteen months, agrees historically with the beginning of Merrick's growth spurts. The only strike against it is the fact that he didn't seem to have any heart or nerve problems.
No one knows exactly how many people in the world have Proteus Syndrome. Most doctors think that the syndrome affects less than one person in a million worldwide. However, because of the fame of being associated with Merrick, one of the major problems with Proteus Syndrome is over-diagnosis. Although one drug has been tested as a treatment, it is not entirely certain whether the drug is effective or if it treats disorders similar to Proteus Syndrome. Overdiagnosis means doctors may be prescribing it in cases that are similar to Proteus but not actually the disorder. In order to make progress on treatment, doctors are attempting to find a way of clearly separating this genetic disorder from any other. Perhaps the best thing for Proteus would be a retesting of Merrick's remains to have it officially discounted as a possible diagnosis for him, separating it from his fame.