Riddle of the Elephant Man

Riddle of the Elephant Man | Genetic Counselling | Genetic Testing | Find Out More

Dr Martin Brookes

January 2004

The human gene pool is generally considered to be a safe place to go swimming. After all, when we dive in to meet and mate, the result is usually a healthy baby, free from disease and deformity. But within the human gene pool there are dangers lurking beneath the surface, disease genes that can damage or destroy all hope of an ordinary life. For the most part, these genetic trouble-makers remain unknown and unseen. Indeed, it is a peculiar and slightly unsettling fact that each one of us carries, on average, about half a dozen recessive genes that would kill us if we had two copies instead of one. Alone, they are impotent and effectively invisible. Life goes on as normal, oblivious to their presence. But every now and again the lottery of inheritance deals a devastating blow.

Joseph Merrick, the so-called Elephant Man, is a potent symbol of the effects that such bad luck can bring. Medical opinion remains divided on the exact cause of his condition. Some put his grotesque deformities of bone, skin and nervous tissue down to neurofibromatosis. Others pin their colours to the mast of a much rarer disease known as Proteus syndrome. Either way, it seems certain that some kind of rogue genetic element was to blame. Among the thousands of genes that Merrick inherited from his parents lurked a mutation that would shape his terrible fate.

Like his contemporaries, Merrick knew nothing about chromosomes, genes or DNA. Heredity was largely a mystery to the 19th-century mind. Merrick put his affliction down to the fact that his mother was knocked down by a circus elephant during pregnancy, attributing the rarity of his disorder to the rarity of elephants in rural Leicestershire.

Whatever the merits of his own diagnosis, Merrick can count himself extremely unlucky. Neurofibromatosis only affects one in 4000 people, while Proteus syndrome is even rarer – to date there have only been 90 cases documented worldwide.

We can take some comfort from the rarity of genetic disorders. Even for the more common genetic diseases such as sickle-cell anaemia and cystic fibrosis, the overall numbers of people affected are relatively small. Worldwide, for example, about one in 2000 people are born with cystic fibrosis. These figures are slightly misleading, however, since the numbers can vary enormously among different ethnic groups. In Scandinavia, for example, type 1 diabetes affects about one in 500 people, whereas in Japan only about one in 35,000 is affected.

None of these statistics offer much reassurance to individuals born into a family with a known history of a disease. Having an affected ancestor can increase the risks dramatically, and can lead to anxieties regarding your genetic health. Fear and uncertainty drove subsequent generations of Merricks to cut themselves off from their unfortunate ancestor, seemingly too afraid to admit to themselves that they were related to the elephant man?

Over 100 years since Merrick's untimely death, genetic disorders continue to blight the lives of individuals and families. Genetic diseases have not gone away. On the contrary, we now know that there are thousands floating around the human gene pool, with new ones being discovered each week. But today we can at least be more certain about what genetic skeletons might be lurking in the closet. The biotechnology revolution has delivered us into a new era of genetic testing and genetic counselling.

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