Joseph Merrick was initially and incorrectly diagnosed as having Elephantiasis. A rare disorder of the lymphatic system, Elephantiasis, is caused by a parasitic worm which enters the lymphatic system and is spread by mosquito bites.  The symptoms of elephantiasis are inflammation of the lymphatic vessels resulting in extreme enlargement of the affected area, usually a limb or parts of the head and torso.   Elephantiasis occurs in tropical or sub tropical countries and therefore it would be extremely unlikely that Joseph would have contracted the disease.

During the twentieth century the popular diagnosis for Joseph’s condition was Neurofibromatosis or - Von Recklinghausen Syndrome.  In 1909 and again in 1930 Dr Parkes Weber published two articles citing the syndrome as being responsible for Joseph’s condition. A common inherited disease Neurofibromatosis is a genetic disorder, characterised by the development of tumours consisting of nerves and skin and areas of skin discolouration (café-au-lait spots).  Those suffering from Neurofibromatosis may also develop marcrocephaly (enlargement of the head), skeletal malformations.  The tumours can occur singly or in great numbers and can vary in size from a pin head to much larger.

Von Recklinghausen Syndrome is a genetic condition, while Joseph’s mother and sister are reported to have a disability it is not specified what kind so it is impossible to prove that there is a generic link between Joseph’s mother and his condition. His sister Marion Eliza Merrik died of mylitis, a spinal disease aged 24 and family records note that his cousin was also born disabled. His father’s family have no record or anyone suffering from such a generic condition.

In the late 1970’s doctors began to theorize that Joseph did not have neurofibromatosis and think that he may have had Proteus syndrome.  In 1986 J A R Tibbles (Professor of Paediatrics and M M Cohen Jr (Professor of Oral Pathology and Paediatrics at Dalhousie University Nova Scotia) published an article in the medical journal entitled The Proteus Syndrome:  The Elephant Man Diagnosed.

This was ratified in 1998 when a panel of doctors at the National Institute of health surmised that Joseph may have been suffering from Proteus syndrome.

First identified by Dr Michael Cohen in 1979 there have been just over 200 cases confirmed world wide.  The name comes from the Greek sea-god Proteus who could change his shape and form to avoid being captured by his enemies.  Men are more likely to contract Proteus syndrome and its cause is as yet unknown.  Proteus syndrome is a congenital disorder (a medical condition present at birth) which causes:

• Overgrowth, asymmetry and gigantism of the limbs
• Increased size of an organ, or the body, or bones
• Raised rough skin
• Deep lines and overgrowth of soft tissue on the soles of the feet
• Patches of overgrown blood or lymphatic (vascular malformations)
• Local overgrowth of fat or undergrowth of fat
• Various tumours are more common in patients with Proteus syndrome, but most are benign
• Deep vein thromboses (blood clots) and the lodging of these blood clots in the lungs.

In 2002, genealogists and a New Zealand television research team put out a BBC appeal to trace the Merrick family line.  A Leicester resident named Pat Selby was discovered to be the granddaughter of Merrick's uncle.  The team took her DNA samples in order to try to diagnose the condition that caused his deformities

Joseph always maintained that his condition was due to the fact that his mother was knocked over and frightened by an elephant while she was pregnant.

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