by Peter Ford
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 arrangement of 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 harbou
r 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.
CHAPTER 11
The Burden Falls Away
Treves could only watch the progressive decline of Joseph Merrick with helpless concern. From time to time he would intrude upon Joseph to make further clinical examinations and chart the advances of the disease. The bony masses and the pendulous flaps of skin continued slowly to grow, and the stump in the upper jaw where the ‘trunk’ was formerly amputated at the Leicester Infirmary did not stay dormant but began to re-enlarge, forcing Joseph’s mouth into new bizarre distortions. The intelligibility of his speech again deteriorated. He suffered bouts of bronchitis and the doctors knew his heart was no longer sound. They knew, too, that he must eventually succumb to his peculiarly fungating disorder, and assumed that the end, when it came, would be sharp and sudden, perhaps in the eruption of a violent pneumonia or following a rapid failing of the weakened heart.
There were further confrontations with the hospital photographer. The last of the photographs, probably taken in 1888, dramatically demonstrated the premature ageing effect for which the encroaching disease was responsible. In the space of the five years he had known him, Treves saw Joseph’s appearance change from that of a youth to one of an elderly man. Having reached his late twenties he was entering into his old age.
Yet, despite the slow, relentless deterioration to which he was subjected, the Elephant Man seemed able to maintain an inner calm and contentment. The patient’s days settled into a steady routine of reading, receiving friends, greeting those who passed in Bedstead Square. The daily baths and the ministrations of the nurses also punctuated the quiet hours he spent alone with his thoughts. His mind meanwhile turned more and more in the direction of religious questions, the devotional upbringing he had received from his mother beginning to reassert its influence. In this connection he welcomed the visits of the hospital chaplain, the Rev. Tristram Valentine, who naturally encouraged his questing into simple theology.
Mr Valentine suggested it would be perfectly possible for him to attend the hospital chapel services on Sundays, for he could sit unseen in the vestry yet still hear and take part in the service. Mr Valentine must have made something of a contrast with the Baptist ministers whom Joseph knew in his childhood, having a reputation for being rather a ‘high’ churchman, but Joseph sought his advice and instruction, and eventually asked to be prepared for confirmation into the Anglican Communion. Confirmation in the Church of England may only be performed by a bishop, and then only after the prelate has satisfied himself that the candidate is suitable by having undergone an examination on the catechism. If Joseph was to be confirmed, the services must be secured of a bishop willing to meet and confirm Joseph in a private ceremony at the London Hospital.
The bishopric of London was assisted at this time in its heavy diocesan responsibilities by the suffragan bishopric of Bedford, originally created by Henry VIII but fallen into disuse until its renewal in the 1870s. Dr William Walsham How, a country parson from Shropshire, had been appointed to the suffragan see, though Dr How was no routine parish priest. He took an essentially practical view of his commitments as a Christian, had a strong gift for the written and spoken word and was a scholar in natural history and biology. Several of his hymns are retained in the English Hymnal, including the processional, ‘For All the Saints Who From Their Labours Rest’.
During his twenty-eight years as a priest in Shropshire he had declined offers of bishoprics in various parts of the British Empire, as well as certain comfortably upholstered livings at home. He had only been drawn to London through his conviction that there was work to be done among the deprived and often desperate lives of the people of the East End. He saw himself, in fact, as the East End’s unofficial bishop, and worked tirelessly to raise funds for his poverty-stricken parishes by holding public meetings in the West End and the richer towns of southern England.
The London Hospital lay within one of his parishes, and he was associated with its work. He had already met Joseph Merrick, having been present in May 1887 to offer the blessing during the ceremonies at which the Prince and Princess of Wales opened the new Nurses Home and Medical College accommodation. When Mr Valentine approached the suffragan bishop with the problem of Joseph’s confirmation, Dr How felt no reservations about suitability. In due time Joseph was confirmed during a quiet private ceremony conducted in the hospital chapel.
Towards the end of his essay, Treves mentioned one other aspiration that, he said, had ‘stirred the depths’ of Joseph’s mind: the chance to visit the countryside to observe nature and experience it at first hand. He had read so much about it in books.
The country as viewed from a wagon on a dusty high road [said Treves] was all the country he knew. He had never wandered among the fields nor followed the windings of a wood. He had never climbed to the brow of a breezy down. He had never gathered flowers in a meadow.
Dame Madge Kendal mentions that Lady Dorothy Nevill, who was one of Joseph’s visitors as well as a benefactor of the London Hospital, offered Joseph ‘a cottage on her estate for some weeks, on condition that he did not leave it till after dark’. Whether this conditional offer on the part of a descendant of Sir Robert Walpole was ever taken up we do not kn
ow. A similar offer by Lady Louisa Knightley was certainly accepted, and it took place, according to Treves, during the closing months of the Elephant Man’s life.
Lady Knightley’s private estate was Fawsley Park, situated near Northampton. Here Joseph could have the run of a cottage without restriction. The difficulties that always came into play the moment Joseph travelled, however, meant that arrangements needed to be especially elaborate. Treves describes how Joseph, in accustomed style, left the London Hospital concealed inside the depths of a carriage with its blinds drawn. At the main-line railway terminus a whole second-class railway carriage had been reserved for his use, run into the sidings so he could board it unobserved from the departure platform. Then, with blinds down, the carriage was shunted into the station to be attached to the main-line train. At his destination the procedure was reversed, and once more safely concealed in a cab, Joseph was brought to Fawsley Park.
Considering so much had been achieved, with so much attention to detail, it was ironic that there should have been a breakdown of plans as he arrived at his destination. It was intended he should stay in a small cottage as guest of one of the estate workers and his wife, who would see to all his needs. Unfortunately the wife of the house was insufficiently prepared for her guest’s appearance. As with other women who came face to face with Joseph unawares, the first glimpse was devastating. The moment she saw him being ushered into her home, the poor woman turned and, her apron over her head, fled to hide in the fields. When at last she calmed down, it remained obvious that she could not cope with looking after the Elephant Man. A gamekeeper’s cottage lay close to the border of a small wood on the estate, and here Joseph was taken. The gamekeeper and his wife, people of more robust clay, greeted Joseph with kindness and offered their hospitality.