The Illness – One early belief was that Merrick suffered from elephantiasis (a tropical disease), a disorder of the lymphatic system that causes parts of the body to swell to grotesque proportions.
Later it was theorized that he had an extremely severe case of neurofibromatosis.
This nervous system disorder causes nerve cells to grow out of control, creating large, misshapen tumors.
Neurofibromatosis is not phenomenally rare, occurring in one of every 4,000 births, although no known case of neurofibromatosis has ever been as profound as Merrick’s condition.
In 1979, a much more rare disease was identified as causing overgrowth of bone and other tissue.
Joseph’s disorder, named Proteus Syndrome, has been recorded in fewer than 100 cases, ever.
Several years ago a U.S. National Institutes of Health panel suggested that PROTEUS SYNDROME may have been the true cause of John Merrick’s condition.
A study of Merrick’s remains at the Royal London Hospital (Whitechapel), backs up this diagnosis.
Radiologist Amita Sharma at the Whitechapel found that Merrick’s spine was not as sharply curved as is normally found in cases of neurofibromatosis.
In addition, Merrick’s ribs do not demonstrate the peculiar notches and thinness associated with neurofibromatosis, and are actually abnormally thick.
The extreme overgrowth of bone in Merrick’s skull and the right side of his body is consistent with Proteus Syndrome.
Sharma based her conclusions on a series of x-rays and CAT scans produced at the Royal London Hospital, where Merrick’s remains have been kept since his death.
In July of 2011, a team led by Dr. Leslie Biesecker of the Human Genome Project at the National Institutes of Health discovered that the genetic cause of the condition is a point mutation — a single-letter misspelling in the DNA of the genetic code — in the AKT1 gene that causes sporadic tissue growth.
Unlike inherited genetic disorders, the gene variant that causes Proteus syndrome occurs spontaneously in each affected individual after conception in just one cell of the developing embryo.
It is believed that the severity of the disease depends on when this spontaneous genetic change occurs in embryonic development.
As the embryo grows and develops, only the descendants of the cell with the original AKT1 gene mutation display the hallmarks of the disease, leaving the individual with a mixture of normal and mutated cells, a condition called genetic mosaicism.
Newborns with Proteus syndrome almost always appear unaffected, and symptoms typically arise in the child’s first two years of life.
The mutation in AKT1 alters the ability of affected cells to regulate their own growth, causing some parts of the patient’s body to grow to abnormal and even enormous sizes, while other parts of the body remain normal.
The irregular overgrowth worsens with age and increases the susceptibility to tumours.
Contrary to popular belief, the Elephant Man’s skeleton has never been in the possession of Michael Jackson or any ‘freak-hunting’ private collector.
“….The face was no more capable of expression than a block of gnarled wood…..”
“….To add a further burden to his trouble, the wretched man, when a boy, developed hip disease, which had left him permanently lame, so that he could only walk with a stick. He was thus denied all means of escape from his tormentors. As he told me later, he could never run away…..”