CHAPTER 10
The question of the diagnosis of Joseph Merrick’s puzzling condition was last left in the hands of the dermatologist Dr Henry Radcliffe Crocker (see Chapter Three), when, in 1885, he made his tentative yet positive suggestions to the meeting of the Pathological Society of London. Joseph was probably never aware of the fact that, three years further on, in 1888, he came to rest in a firm niche in medical history with the publication of Radcliffe Crocker’s magnum opus, a two-volume work entitled Diseases of the Skin:aReview of 15,000 Cases of Skin Disorder. It was destined to be a classic among medical textbooks, and the second volume contained a section on the rare group of skin diseases known as the fibromas. It was here that he mentioned the Elephant Man.
An extraordinary case of this kind was brought to the Pathological Society by Treves. I had an opportunity of examining the patient there, and at a show where he was exhibited as an ‘elephant man’.
Like Tuckett, Bland-Sutton and Treves, Crocker had therefore made his pilgrimage to the freakshop in the Whitechapel Road. His technical description continued:
The bulk of the disease was on the right side; there was enormous hypertrophy of the skin of the whole right arm, measuring twelve inches round the wrist and five inches round one of the fingers, a lax mass of pendulous skin, etc., depending from the right pectoral region. The right side of the face was enormously thickened, and in addition there were huge unsymmetrical exostoses on the forehead and the occiput. There were also tumours affecting the right side of the gums and palate; on both legs, but chiefly the right, and over nearly the whole of the back and buttocks; the skin was immensely thickened, with irregular lobulated masses of confluent tumours, presenting the ordinary molluscous characters. The left arm and hand were small and well formed. The man was twenty-five years old, of stunted growth, and had a right talipes equinus, but was fairly intelligent. The disease was not perceived at birth, but began to develop when five years old, and had gradually increased since; it was, of course, ascribed to maternal fright during pregnancy.
Before saying what was the matter with Joseph Merrick, it is easier to say what it most positively was not. To begin with it was not the clinical condition usually labelled elephantiasis. The show name of ‘The Elephant Man’ that his managers chose has sometimes had the unfortunate effect of leading writers into a misdiagnosis and assuming elephantiasis was responsible. It is therefore the disease cited for Joseph Merrick in several apparently authoritative sources, but elephantiasis is a complaint caused by a parasitic hair-like worm that invades the body’s lymphatic channels. It occurs only in tropical or sub-tropical regions, is transmitted to man through mosquito bites, and has entirely different features from those characteristic of Joseph’s example.
Joseph himself was never in any doubt over the cause of his great misfortune. His distorted body must, he considered, be attributed directly to the frightening experience his mother suffered when making her way through the crowded streets at the time of Leicester’s Humberstonegate Fair. As Bergen Evans comments in The Natural History of Nonsense:
Once conception has been accomplished a further set of delusions obtain. Chief of these is the belief that certain impressions made on the mother during her pregnancy will affect the child. Of late years it has been held that pleasant impressions will have a beneficial effect and that the expectant mother should therefore keep herself cheerful, listen to good music, and frequent art galleries.
Beliefs in the imprinting of maternal impressions on unborn children are ever-present in folklore, from earliest times and in all cultures. The ancient Greeks advised pregnant women to gaze on statues of Castor and Pollux and other objects of great beauty so their children might be born fair and graceful. Similarly motivated, pregnant ladies in nineteenth-century Paris spent many hours in the Louvre, perambulating gently through the galleries. But as Mr Evans indicates, seeking for benign effects is only one aspect. Traditionally the avoidance of undesirable or even malevolent consequences needed to be taken into account at every step by women made vulnerable by pregnancy. Dr Károly Viski records in Hungarian Peasant Customs:
The young woman must not hide a leaf in her bosom, because a similar mark will show on the child’s breast; fruit should not fall on her, and if it does, she must not make a sudden move to catch it, as that will result in the mark of that fruit on the child. It is unwise to throw meat in the direction of the woman, especially liver, because in that case the child will get freckles.
In East Anglian Folklore, Enid Porter records how the eating of strawberries was and is believed in that area of Britain to cause a strawberry-coloured birthmark on a baby’s body. In her Cambridgeshire Customs and Folklore, she cites the case of a Cambridge man born with his hands deformed, which his mother put down to a large, strange dog having leaped up shortly before his birth and pressed its paws to her stomach. Mentally retarded children born in East Anglia during the Second World War were often thought to be a consequence of mothers being frightened by bombing raids. In the Cambridgeshire fens, pregnant women traditionally tried to avoid the sight of a chimney sweep in case their babies were born black-skinned.
International folklore is rich in such material, and even in the most sophisticated urban environment the folklorist would not need to search far to find current examples. The conviction that a fear of spiders can be transmitted to an unborn child remains remarkably common, as does the belief that spilling a cup of tea or coffee over the mother’s stomach may cause birthmarks. That modern medical science and Bergen Evans define such notions as nonsense matters little to those who believe in them. They may even be helpful to some mothers in modifying the emotional guilt unfortunately often present where a blemished or malformed baby comes into the world. In any case, it is only relatively recently that medical science has rejected these beliefs. Before that, over the centuries since Hippocrates, maternal impression was an integral part of a physician’s advice to mothers-to-be.
In the sixteenth century a great French doctor of the Renaissance period, Ambroise Paré, listed maternal impression among the thirteen causes for the births of abnormal children. Two hundred years later in London, by contrast, William Hunter, who helped to raise obstetrics to a recognized branch of medicine, approached the belief more questioningly. He carefully cross-examined the expectant mothers who came under his care for details of emotional shocks suffered since conceiving. In no example did he come across a malformation or abnormality attributable to psychic injury. He did notice, though, that whenever a small foetal abnormality occurred, the mother would have little difficulty in searching her memory to find an incident to explain it.
But the rational William Hunter, in remaining sceptical of the theory of maternal impression, was well ahead of his time. The belief only lost ground during the nineteenth century as medicine began to find a more securely scientific and empirical base. It came to be pointed out that perfectly normal babies are often born to mothers who have been through appalling emotional crises; that, in any case, few mothers could hope to live through a gestation period of nine months without encountering some of the shocks normal to the business of living; and yet that most babies are born unmarked.
As research came to confirm, malformations of the foetus are generally present before the end of the third month in pregnancy while most events described by mothers happen during the later stages. Furthermore, no means could be discovered by which a nervous trauma might be transferred to the personality of the unborn child, for no nerve connections exist between mother and foetus, nor even an intermingling of bloodstreams.
More than at any other time in its history, the medical profession is aware today of the hazards that may damage a baby in the womb. It seems no more than common sense to advise an expectant mother to avoid certain drugs (including alcohol and tobacco) as well as serious emotional stress, and that any maternal infection should be referred to her doctor without delay. Thus, where medical science is concerned, the ancient theory of maternal impression, with its essentially magical linking of cause and effect, may safely be left to the attentions of folklorists.
At the time when Joseph Merrick was first examined, there were considerable problems of classification, and several factors made the situation even more perplexing. The first and most important source of confusion was the simple fact that the disorder from which Joseph has most generally been said to suffer was not then completely described or labelled. A second difficulty lay in its nature. It involved a condition capable of manifesting itself in many different ways, it being unlikely that any two cases, selected at random, would bear the slightest resemblance to one another in appearance or clinical history. A third factor lay in the extreme rarity of the disorder in its more striking forms.
From the vantage point of a century later, when we have a far wider if still incomplete understanding, the problem of diagnosis in the 1880s can be placed more precisely in context. It was rather as if Treves and his contemporaries were trying to comprehend the picture of a disease that had been broken up into a jigsaw puzzle, the pieces of which were widely scattered. No individual doctor was likely to find himself in possession of more than a couple of pieces of the jigsaw at any one time; he would be even less likely to know about other pieces of the puzzle, or to realize that the two or so pieces he held or knew about were related, let alone were fragments of a far larger as yet amorphous picture. That Treves, with the prompting of Radcliffe Crocker, succeeded in linking three major pieces of the puzzle and connecting the condition with the central nervous system was a credit to the high standard of British medicine in 1885. During most of the twentieth century, it has been broadly accepted that Joseph should be classified as a sufferer from neurofibromatosis, otherwise known as multiple neurofibromatosis or von Recklinghausen’s disease. This diagnosis became controversial during the 1980s, though it retains its importance in the history of the medical understanding of Joseph Merrick’s condition as new research leads into new areas.
Friedrich Daniel von Recklinghausen (1833–1910) was, as professor of pathology at the then newly founded University of Strasbourg, among Germany’s most distinguished pathologists. He was a keen observer of disease processes, and was the first to describe several different conditions with which his name is linked. In 1882, two years before Joseph was exhibited before the Pathological Society of London, von Recklinghausen gave the first description of a hitherto unrecognized disorder. It was characterized by the presence of types of tumour called neurofibromas that were linked with the nerve trunks as well as by soft, lumpy tumours of the skin and areas of cutaneous pigmentation. He noted no other abnormality and suggested no cause for its origin.
Whether Treves or Radcliffe Crocker had come across von Recklinghausen’s monograph at that stage of the story’s unfolding is impossible to say, but even if they had done, it seems unlikely they could have linked the Elephant Man with the cases being described in Strasbourg, the manifestations in Joseph’s example being so bizarre and gross. Indeed, it seems improbable that a diagnosis could have been confirmed even if Professor von Recklinghausen himself had been on hand to make a direct examination.
The name neurofibromatosis by which this disease is now known simply means that there is a tendency in patients who suffer from it towards the formation of one or more tumours of a particular type. The kind of tumour involved is known as a neurofibroma (one composed exclusively of a dense proliferation of nerve and fibrous tissue). Such tumours may occur singly or in great numbers within many different body tissues and can vary in size between that of a pin’s head and an orange. It is the extreme variability in site, size and number of tumours that accounts for the variations of symptoms in individual patients. Despite their random nature it is even so the tendency to form neurofibromas that remains the consistent abnormality to be found in every patient in whom the disorder is diagnosed.
Most commonly the neurofibromas form within the layers of skin, and even here their appearance may be highly variable. In the disorder’s mildest manifestations, there will be nothing to see but a degree of skin pigmentation, this taking the form of patches of skin colouring of a pale coffee shade. These may vary between mere dots and areas the width of a man’s hand. Occasionally the pigmentation may occur as diffuse shading on one or both flanks. It is unusual to find a case of the disease in which such cutaneous discolorations are not present in one form or another.
A more severe manifestation of neurofibromatosis in the skin comes about when the fibromas form themselves into soft swellings. These may or may not be pendulous and they can vary between tiny warty prominences and swellings as large as a clenched fist. They are often present in large numbers on the trunk, but also, not uncommonly, develop on the face. Treves described such apparent tumours in great profusion in the notes he made on Joseph Merrick’s disorder.
The most extreme skin changes of all occur when forms of diffuse tumour develop within the network of nerve fibres within the skin. These then become associated with a thickening of the skin and subcutaneous tissue, so that large folds of skin are formed; or there may be a diffuse enlargement of the subcutaneous tissues of a limb. Such a change as this most usually affects the flesh overlying the temple, cheek, upper lip or back of the neck.
It was dramatic illustrations of the disease of this kind that Dr Radcliffe Crocker and his mentor, Dr Tilbury Fox, were citing when they spoke of dermatolysis and pachydermatocoele (see earlier). In fact, this was the technical description that continued to be applied to Joseph Merrick’s case over many years, for it was not realized that such cases might be explained as extreme manifestations of the milder forms of the syndrome described by von Recklinghausen. By 1909 the link had been assumed. In that year Dr Parkes Weber, a physician to the German Hospital in London and something of a connoisseur of rare diseases, wrote in an article on von Recklinghausen’s disease for the British Journal of Dermatology: ‘The most famous example of the class was undoubtedly the famous Elephant Man whom many must have seen when he was at The London Hospital.’
In the fatty subcutaneous tissues of the bodies of the more sorely afflicted, the neurofibromas develop as firm nodules on the trunks of the peripheral nerves and may be felt as tender, bead-like swellings in the limbs and on the sides of the neck. Wherever nervous tissue occurs in the body, neurofibromas are capable of forming, and they commonly crop up on the roots of the great nerves and within the skull or the actual spinal canal.
On the face of it, it seems curious that solid structures like the bones should ever become involved. It is therefore not surprising if this connection was one of the later pieces of the jigsaw to fall into place. Only at about the turn of the century did associated bone changes come to be recognized, as when, in 1901, Jonathan Hutchinson presented the case of a woman who suffered from involvement and overgrowth of the frontal bone of the skull linked with bony tumours. And, in 1906, Dr Cooper reported similar findings in a young girl. Such skeletal distortions were usually found to underlie diffuse types of skin tumour apparently similar to those Joseph exhibited.
It was not until as late as 1930 that Dr Parkes Weber put forward the suggestion that the bone malformations occurred as a result of the involvement in neurofibroma formation of the periosteum (the fibrous membrane that shapes and forms the surface layers of a bone). Once again Joseph Merrick was cited, Dr Weber remarking in his paper:
The famous Elephant Man … whom I once saw, and who died at The London Hospital at the age of twenty-seven years on April 11th, 1890, had many deformities of nature of pachydermatocoeles as well as many bony thickenings and outgrowths … Irregular periosteal neurofibromatosis may well have played a part in his osseous deformities.
During the past sixty years, a number of other manifestations of neurofibromatosis have been recognized, and tumour manifestation has been described in practically every tissue and organ of the body. Changes have been found to take place in such varied sites as the intestines, internal glands, including the adrenals, the kidneys and the retina of the eye. It is quite possible that variants of the disease exist that are yet to be recognized. Meanwhile, varieties of neoplastic disorder have been categorized which bear close visual resemblances to the classic signs of neurofibromatosis but are clinically quite distinct.
But to possess any sort of unified picture of neurofibromatosis is still an exclusive privilege of the pathologist or medical scientist. From the viewpoint of the individual patient or a doctor in general practice the disorder presents a rather different aspect. To start with, it is not especially common. A doctor in general practice may expect to come across no more than two or three cases during the course of a working life. It is also important to stress that, in the vast majority of examples, the disorder is so minor as to cause little in the way of symptoms: perhaps a small, soft swelling that may be felt beneath the skin, or a few warty pimples hidden from sight beneath normal clothes or a patch of lightly pigmented skin. Thus the condition may often be ignored or never reach the attention of a medical practitioner. Cases suffering from disturbances severe enough to incommode them or threaten their well-being are considerable medical rarities and widely scattered.
The genetic defect responsible for neurofibromatosis turns up in a wide range of races and in virtually every corner of the world. Evidence for it may be present at birth or it may make its first appearance during early childhood, though relatively few patients come under active medical care during this period. In many instances, the disease does not progress, but remains static for year after year. Only in the most occasional patient will it metamorphose into a progressive form so that each year of life sees some fresh and tragic affliction. Quite early on in the study of neurofibromatosis it was recognized that it could run in families, often passing down through two, three or even four generations. In fact about half of all known cases have been found to inherit the disorder directly from an affected parent. In the other half of cases, it seems as though the disorder is sporadic and caused by a chance genetic mutation, no previous case being detectable in the family tree.
Perhaps the most comprehensive study of the genetics of neurofibromatosis was that made in the University of Michigan in the early 1950s by F. W. Crowe, W. J. Schull and J. F. Neel. Their findings, published in a monograph, Multiple Neurofibromatosis, cleared up many problems in understanding the inheritance of the condition. At the outset they evolved a clinical method for identifying individuals who had the disease in even its mildest forms. This was based on careful measurement and counting of areas of skin pigmentation, a method they called the ‘six-spot test’. Its use enabled them to study the passage of the disease through many families.
Where the disease was obviously a familial complaint, they showed decisively that the disorder was inherited as a simple Mendelian dominant characteristic. In other words, in the families concerned the disease was invariably passed down from sufferer to sufferer without skipping a generation. Moreover, wherever such a sufferer from the disease became a parent, about half the children of the marriage showed symptoms and half were normal. The affected children were then liable to pass the disorder on yet again to the following generation in the same ratio, though children born normal could rest assured that their descendants would be clear.
One interesting point discovered by Crowe, Schull and Neel was that the disorder is not in practice transmitted as freely as might be expected. Many sufferers do not marry, and those who do seem to be relatively infertile. Sexual and general physical underdevelopment is certainly a recognized feature of the condition in a proportion of victims.
The Michigan doctors also threw some light on the origin of those sporadic cases that occur without any previous trace being present in their families. Such patients are also prone to avoid marriage, and, where they do marry, also prove comparatively infertile. Where, however, the research team managed to examine thirty-five children resulting from such marriages, they found that eighteen of them, or almost half, showed evidence of the disease. Obviously even in sporadic cases the disease may become inheritable.
There is at present no way of confirming decisively whether or not Joseph Carey Merrick was a sporadic case of neurofibromatosis caused by a chance genetic mutation. Neither is there any way of knowing in what way his mother, Mary Jane Merrick, or his sister, Marian Eliza, were crippled and whether their disabilities were consistent with the same disease. The only tentative inference to be drawn is that the fact of their being crippled provides circumstantial evidence for a defective gene perhaps being carried by Joseph’s mother. Certainly there is no indication of the illness being present in any branch of his father’s family.
From the moment he came under the care of the London Hospital, the Elephant Man posed an endlessly fascinating puzzle for the medical world. Alternative diagnoses for the cause of his deformities have been advanced from time to time, including the idea that he may have suffered from a condition known as Maffucci’s syndrome, or that the rare disorder called polyostitic fibrous dysplasia could have been involved. None of these theses have stood up to the test of further investigation. In 1986, however, J. A. R. Tibbles and M. M. Cohen Jr, respectively Professor of Paediatrics and Professor of Oral Pathology and Paediatrics at Dalhousie University in Nova Scotia, published an article in the British Medical Journal entitled ‘The Proteus Syndrome: the Elephant Man Diagnosed’. Named after the polymorphous or shapeshifting Greek god Proteus, this rare condition, involving a complex overgrowth of bodily tissues with bone distortion, was first observed in the late 1970s, and delineated in 1983. Tibbles and Cohen have asserted that there is ‘no positive evidence that the Elephant Man suffered from neurofibromatosis; rather, there is good evidence that he did not and in fact had features that are fully compatible with Proteus syndrome’.
Former sufferers from Proteus syndrome, the aetiology of which is as yet unknown, were undoubtedly misdiagnosed in the past as neurofibromatosis victims. Whether this was so in the case of Joseph Merrick remains at present an open question. For the time being, as an alternative theory for his condition, the thesis of Tibbles and Cohen stands as a strong contender. They point out, for instance, that no authority who examined Merrick in life left a clinical note of the presence of the characteristic café au lait spots; though it seems rather a demanding expectation that the observers of the time might have singled these out amid his bewildering wilderness of symptoms. The current effect of their theory, however, is to place a qualifying question mark over the statements made firmly in generation after generation of classic medical textbooks – such works of basic authority as Kinnier Wilson’s Neurology, Boyd’s Textbook of Pathology and Russell Brain’s Diseases of the Nervous System – to the effect that Joseph’s case was a supreme example of multiple neurofibromatosis.
Meanwhile, in support of the neurofibromatosis thesis, Professor Gordon Seward of the Royal London Hospital Medical College has defined six skeletal features that he feels to be consistent with neurofibromatosis. First there is the lack of symmetry in the skeleton, the bones on one side being abnormally enlarged while those on the other are more delicate and slender than could be considered normal. The superfluous outcrops of bone (exostoses) contain bone that has a coarsely trabeculated structure (the arrangementof the thin, internal supporting struts of bone) while the outer cortical bone adjacent to these is normal. The palate shows, on its right-hand side, a deep concave depression consistent with the site of a neurofibroma, later in part cut away at the Leicester Infirmary; and a corresponding concavity occurs on the anterolateral surface of the right upper jaw. There are also widenings of certain holes, canals and grooves for nerves passing through the skull and lower jaw bone. These observations are all consistent with a diagnosis of neurofibromatosis within its range of variant effects and have been known and recorded in other cases.
The Proteus theory has been welcomed by a number of clinical neurologists for seeming to avoid a problem of identification with the Elephant Man among neurofibromatosis sufferers, this tendency towards identification being felt to represent a barrier in the effective counselling of victims of the disease. It is an undeniable fact that the story of Joseph’s life continues to demonstrate an extraordinary power to disturb and obsess. On the other hand, present-day society continues to harbour immense problems with how it looks at those who are seriously deformed, whether through accident, disease or genetic mischance: it would often rather they did not bring themselves to its attention. In this we are possibly more, not less, hypocritical than the Victorians. The problem may be regarded as one of education, but education is no longer seen as offering easy solutions. The story of Joseph Merrick in this respect has the specific value of a natural morality on the theme of human dignity. Its most profound implications can only be where it touches on such questions, and it would surely be difficult to justify any retelling of the story that failed to do so. To be moved by it is to gain insight, maturity and understanding on behalf of our own sense of humanity; the implications are far wider than those relating to one clinical syndrome alone.
Recent major advances in genetics and the identification of individual genes in DNA samples from fossil as well as recent specimens mean that the present debate on Joseph Merrick’s acute condition may eventually be resolved on a straightforward scientific basis. It is now in theory possible to check a sample of bone from his skeleton to see whether the defective gene responsible for neurofibromatosis is present or absent. Such a test still probably lies some way in the future. There are many pressing claims on the research facilities that are presently opening out fresh perspectives in the vital new area of genetic mapping and analysis.
We therefore cannot yet say that the disease from which Joseph suffered so drastically and dramatically has been fully and comprehensively classified. Whatever the diagnosis ultimately arrived at, we may be sure that he stands among its most sorely afflicted victims. It is probable that had Frederick Treves lived a century later he could have offered at least a measure of corrective and cosmetic surgery. In the context of his own lifetime he was largely powerless, despite his surgical skills. But there is a concise creed that doctors throughout the ages have attempted to follow: to cure sometimes; to relieve often; to comfort always. Frederick Treves was unable to cure or relieve Joseph Merrick’s medical condition, though ultimately he did not fail his patient. It has become the social fashion to decry the philanthropic impulses so effectively put to work to secure Joseph’s future at the London Hospital, but it is chastening to reflect on how society’s attempts at the management of the acutely deprived and disabled in our own day might compare in terms of the inner degree of security and the individual standards of kindness Treves brought to bear in the case of Joseph Merrick.
Sir Frederick Ponsonby, a private secretary to Edward VII, classified Treves as a ‘great surgeon, a man with a keen sense of humour but a certain contempt for the human race’. This was to ignore other facets of Treves’s complex personality. In the case of Joseph Merrick he saw it as a point of firm moral principle that the rules must be broken, and he made it his business to do so.