Mutants

by Armand Marie Leroi

  Vienna, 1754. ‘What,’ asked Marie-Theresa, ‘is the most remarkable thing in this room?’ Boruwlaski gazed about the rococo splendours of the Schönbrunn, but knew the answer. ‘The most remarkable thing in this room is the sight of a little man in the lap of a great woman.’ Her Imperial Majesty, Empress of all Austria and Hungary, was delighted. In Munich, Prince Kaunitz offered Boruwlaski a pension for life. In Lunéville the exiled Stanislaus, King of the Poles, professed himself delighted by his conversation – so much more interesting than that of his own court dwarf, an unhappy youth by the name of Bébé. The Comte de Treffan was also there, making notes for his article Nain in the Encyclopédic In Paris Boruwlaski stayed with the Duc d’Orléans; at The Hague he had an audience with the Prince Stadholder. At Versailles the teenage Marie Antoinette gave him a diamond ring from her very own finger.

  PITUITARY DWARFISM. JOSEPH BORUWLASKI (1739–1837).

  Ten brilliant years passed in this manner. And then Boruwlaski fell in love. He paid his court to an actress. She rejected him with scorn. Years later he would write: ‘If I can upbraid nature with having refused me a body like that of other men, she has made me ample amends, by endowing me with a sensibility which, it is true, displayed itself rather late, but, even in my constitutional warmth, spread a taint of happiness, the remembrance of which I enjoy with gratitude and a feeling heart.’ But by then he could reflect on his youthful passion with calm. For he had long won the heart of another, a dark-eyed young noblewoman named Isalina Borboutin. She too had laughed at him, toyed with him, treated him like a child. But he persisted. He wrote to her, often and passionately. He petitioned the King of Poland for a pension so that he could support her. He was given one and a title as well: she relented.

  Boruwlaski was a product of the French Enlightenment. In his Memoirs we hear the humane, rational, questing voice of the Encyclopédistes. ‘It was easy,’ he writes,

  to judge from the very instant of my birth that I should be extremely short, being at that time only eight inches in length; yet, notwithstanding this diminutive proportion, I was neither weak nor puny: on the contrary my mother who suckled me, has often declared that none of her children gave her less trouble. I could walk and was able to speak at the age common to other infants, and my growth was progressively as follows: At one year I was 11 inches high, English measure.

  At three 1 foot 2 inches

  At six 1 — 5 inches

  At ten 1 — 9 inches

  At fifteen 2 feet 1 inch

  At twenty 2 — 4 inches

  At twenty-five 2 — 11 inches

  At thirty 3 — 3 inches

  This is the size at which I remained fixed, without having afterwards increased half a quarter of an inch. My brother, as well as myself, grew till thirty years of age, and at that period ceased to grow. I cite this double proof to remove the opinion of some naturalists who have advanced that dwarfs continue to grow all their lives.

  This is fascinating and rather strange. Most people stop growing some time between the ages of seventeen and twenty. But Boruwlaski, small though he was, continued to grow throughout his twenties. It also took him a while to discover the charms of women: ‘At age twenty-five I was like any lad of fifteen.’ He was evidently a late bloomer.

  Joseph Boruwlaski died in his sleep on 5 December 1837 in the quiet English cathedral town of Durham. He had had a happy life, a rich life. Born into obscurity, he had achieved dizzying social heights. Famed for his conversation and his skill with the violin, he had known most of the crowned heads of Europe. Ennobled by the King of the Poles, he had also won the patronage of the Prince of Wales. He could call the Duke and Duchess of Devonshire his friends. He was an ornament of Durham; its council paid him merely to live there. He had married a noble beauty, raised a family and, when he died at the distinguished age of ninety-eight, had outlived nearly all his contemporaries. It was a graceful end to a remarkable life. For Joseph, le Comte de Boruwlaski, was not merely any Continental aristocrat exiled from his homeland. He was the last of the court dwarfs.

  PERFECTION IN PROPORTION

  Why was Boruwlaski so small? The delay in puberty points to a possible explanation. So do several portraits in oil, half a dozen engravings, and a full-sized bronze that stands even now in the foyer of Durham City Hall. They all show that le Comte was perfectly proportioned in his smallness. True, his proportions were not quite those of a full-sized adult; they are rather closer to those of a child of the same size. But there is no sign of bone disorders such as achondroplasia or pycnodysostosis that cause limbs to grow stubby or bent. It is a kind of smallness that speaks of a failure in one of the most powerful and far-reaching molecular devices that regulate the size we are.

  At the base of our brains, in a cavity of the skull, lies a gland called the pituitary. As big as a pea, it is immensely powerful. The pituitary secretes six hormones that collectively regulate the development of breasts in pubescent girls and the secretion of milk in mothers; the production of sperm in men and the maturation of ova in women; our allergic responses and the way we cope with stress.

  But much of the pituitary is devoted to making growth hormone: it makes about a thousand times more of this one molecule than any of the other five. Secreted into the bloodstream, growth hormone circulates throughout the body. Its message to the body’s cells is a simple one: ‘grow and divide’. Growth hormone is not, of course, the only molecule that can do this. Every organ has its own molecular devices for regulating its size and shape, but the ability of growth hormone to spread throughout the body from a single source means that it simultaneously affects the growth of all tissues. It is the multiplier of our flesh and bones.

  Joseph Boruwlaski has all the signatures of growth-hormone failure: a body the size and proportions of a four-year-old’s, delayed puberty, and a briskly adult intellect. It is impossible to identify the molecular fault with any precision. A mutation in any one of half a dozen genes that control the regulation of growth hormone may have been responsible for Boruwlaski’s smallness. Alternatively, he may have had lots of growth hormone, but no receptor for it to bind to. In the foothills of the Ecuadorean Andes there is an entire community of more than fifty people who have mutated receptors; when fully grown, the men are only 124 centimetres (four feet) tall. They live in just two villages and are rather inbred. Although Catholic, many of them have Jewish names; they are thought to descend from conversos who came to the New World in flight from the Inquisition. It is likely that they brought the dwarfism mutation with them, since exactly the same mutation has also been found in a Moroccan Jew. The Ecuador dwarfs are bright; as children they have a knack for winning prizes at school. But as they get older they tire of being teased by schoolmates and tend to drop out, and in the most recent generation not one of the adults has married.

  * * *

  In 1782 Joseph Boruwlaski met his physical opposite.

  Soon after my arrival in London, there appeared a stupendous giant; he was eight feet four inches high, was well proportioned, had a pleasing countenance, and what is not common in men of his size, his strength was adequate to his bulk. He was then two and twenty years of age; many persons wished to see us in company, particularly the Duke and Duchess of Devonshire, my worthy protectress who, with Lady Spencer, proposed to see the giant.

  I went and I believe we were equally astonished. The giant remained sometime mute. Then stooping very low he offered me his hand, which I am sure would have enclosed a dozen like mine. He paid me a genteel compliment and drew me near to him, that the difference of our size might strike the spectators the better: the top of my head scarce reached his knee.

  Boruwlaski does not tell us the name of this man, but contemporary prints record the meeting of a dapperly dressed dwarf and a man called O’Brien who billed himself as ‘the Irish Giant’. This hardly clarifies matters, since there were at least four ‘Irish Giants’ circulating about Georgian London, two of whom called themselves O’Brien. Both O’Briens were born in Ir
eland around 1760 and claimed lineal descent from Brian Boru, an Irish monarch of mythically gigantic dimensions. Both came to London in the early 1780s; one exhibited himself in Piccadilly, the other in St James’s. Both claimed they were over eight feet tall, but neither was more than 235 centimetres (seven feet eight inches).

  We know this because their skeletons have been measured. One of these men, Patrick Cotter, was buried in Bristol; his casket was found in 1906 and his skeleton examined before re-interment. The skeleton of the other, Charles Byrne, hangs in the Hunterian Museum of the Royal College of Surgeons and Physicians in Lincoln’s Inn Fields, London. He is known there as Charlie, and he is an imposing sight, conveying an impression of oaken massivity. This is partly due to the brown tint of the bones, caused, it is said, by the speed and secrecy of their preparation. His jaw, chin and postorbital ridges are of a strength that must have given him a forbidding appearance in life. Towards his death, which was probably due to drink, he developed the morbid fear that anatomists would seize his bones. He was right to be worried, for a contemporary newspaper describes how ‘the whole tribe of surgeons put in a claim for the poor departed Irishman and surrounded his house, just as harpooners would an enormous whale’. In the event the anatomist and surgeon John Hunter got him, boiled him, and hung him where he can be seen today.

  PITUITARY GIGANTISM. CHARLES BYRNE (1761–83).

  Charles Byrne had a pituitary tumor. In 1911 Sir Arthur Keith, Curator of the Hunterian, opened Charlie’s skull. The indentation that had once contained the pituitary was cavernous; the gland itself must have been more the size of a small tomato than a pea. Pituitary tumors secrete vast amounts of growth hormone. They cause the cells in the growth plates of a child’s limbs to divide abnormally fast, which in turn makes for super-charged growth. Childhood pituitary tumors are no less common now than when Irish giants stalked London’s West End, but these days they are quickly detected and surgically removed. In May 1941, when the Hunterian suffered a direct hit from German incendiary bombs, John Hunter’s giant fossil armadillo was destroyed, as were his stuffed crocodiles and many of the exquisite anatomical preparations to which he had devoted his life. Charlie, however, survived, so to speak.

  PYGMIES

  An old photograph shows a triptych of skeletons that used to stand in the public galleries of the Natural History Museum in London. The central skeleton once belonged to a European man. On his left stood the hunched skeleton of a lowland gorilla; on his right, the gracefully erect one of a pygmy woman. A label, barely discernible, credits the pygmy skeleton to Emin Pasha, African explorer and Ottoman administrator. His 1883 expedition diary records that it had been unusually expensive, an outbreak of cannibalism having inflated the price of human remains in Monbuttu-land. Yet he had paid the asking price without a murmur. Pygmy skeletons were highly desirable and every museum in Europe wanted one. It had only been thirteen years since an African pygmy had first stepped out of myth and into the modern world.

  AKA PYGMY WOMAN (LEFT), CAUCASIAN MALE (CENTRE), GORILLA (RIGHT). PYGMY SKELETON COLLECTED BY EMIN PASHA, CONGO 1883.

  After a few mornings my attention was arrested by a shouting in the camp, and I learned that Mohammed had surprised one of the Pygmies in attendance upon the King, and was conveying him, in spite of strenuous resistance, straight to my tent. I looked up, and there, sure enough, was the strange little creature, perched upon Mohammed’s right shoulder, nervously hugging his head, and casting glances of alarm in every direction. Mohammed soon deposited him in the seat of honour. A royal interpreter was stationed at his side. Thus, at last, was I able veritably to feast my eyes upon a living embodiment of the myths of some thousand years!

  The writer’s name was George August Schweinfurth, a Riga-born botanist and traveller; the pygmy’s name was Akadimoo. They met in 1870 on the banks of the Uele River in what is now the northernmost province of the Democratic Republic of Congo.

  Akadimoo should not have existed. By the time Schweinfurth came across him the notion that there was, buried somewhere in the dark heart of Africa, a race of very small people had long been dismissed as the fancies of Greek mythographers. ‘The Trojans filled the air with clamour, like the cranes that fly from the onset of winter and sudden rains and make for the Ocean Stream with raucous cries to bring sudden death to the Pigmies,’ wrote Homer. Later authors wrote about a pygmy queen named Genara who had, for her beauty and her vanity, been transformed into a crane by a jealous goddess and set against her own people.

  The war of the pygmies, the Geranomachia as the Greeks called it, is an engaging story, and one that endured for millennia. Pliny repeats and embroiders it; he places the pygmies in Thrace, Asia Minor, India, Ethiopia and at the source of the Nile, and cannot resist adding that they rode into battle on the backs of goats and were only seventy-three centimetres (two feet four inches) tall. Puzzled medieval scholastics wondered if people so small could be human, and concluded that they could not. As late as 1716 Joseph Addison wrote twenty-three Latin verses entitled The Battle of the Pygmies and the Cranes. Along with them he published two other Latin poems in praise of the barometer and the bowling ball. In his essay on Addison, Dr Johnson comments that some subjects are best not written about in English.

  Addison’s poem was the last flourish of the Homeric tradition. By the late 1600s, the hardheaded men of the Royal Society were testing legend against empirical evidence and finding it wanting. In 1699 Edward Tyson wrote a pamphlet to prove that a putative pygmy corpse he had dissected was not human. He was right, as it happens, for his pygmy was a chimpanzee. Tyson then went on to write a scathing commentary in which he pointed out that though the inhabited world was well known, no race of little men had been found; the pygmies, as well as the cynocephali (dog-headed men) and satyrs of the Greeks, were merely garbled stories about African apes.

  Tyson’s reasoning was clear and his intentions admirable, but he overestimated the extent of the world that was actually known. He also failed to consider that Homer’s lovely simile might have been concrete knowledge transmuted. Homer certainly knew that the storks that can still be seen nesting in Greek villages in late summer, winter each year in Africa. The inference that his pygmies must live there too is plain. He was also probably remembering something distantly learned from the Egyptians. Almost a thousand years before Homer lived, Pepy II of the sixth dynasty had written to one of his generals urging him to look after a pygmy found in an expedition to the Southern Forests.

  Akadimoo, the first modern pygmy, belonged to a people called the ‘Aka’ – a name by which they are still known. The Aka are only one of a rather heterogeneous collection of shortish peoples who live in the African forest between the parallels 4° North and South. If a pygmy is defined as any member of a group with an average adult male height of less than 150 centimetres (four feet ten inches), then Africa has about a hundred thousand of them. The shortest are the Efe of the Ituri forest; their men are only 142 centimetres (four feet eight inches), their women 135 centimetres (four feet five inches). They are thought to have been there long before the invasion of the taller Bantu from the north-west about two thousand years ago.

  The French anthropologist Armand de Quatrefages thought that African pygmies are the remnants of a small, dark, frizzy-haired and steatopygous people who once occupied much of the globe. This is not a ridiculous idea. In the islands of the Indian Ocean and the South China Sea there are groups of people who are almost physically indistinguishable from African pygmies. These are the ‘negritos’ who have been a shadowy presence in anthropology ever since the Spanish first encountered them when settling the interior of Luzon Island in the Philippines archipelago. Recent genetic studies suggest that the negritos are ancient: that they were the first Palaeolithic colonists of Asia. Like the rest of humanity, they came from Africa, but they are not especially closely related to Africans, much less African pygmies. They may have evolved smallness quite independently.

  NEGRITOS. PORT BLAIR, ANDAMAN ISLANDS
C.1869–80.

  Theories about the cause of pygmy shortness long antedate sure knowledge of their existence. The Geranomachia was a favourite theme of Attic artists, who knew only two things about pygmies: that they were short and that they did not like cranes. A red-figure rhyton from the Classical period therefore shows an achondroplastic dwarf clubbing a bird. The diagnosis of achondroplasia is unambiguous – the limbs of the bird’s assailant are short and bowed, yet his torso, head and genitals are of normal size. Pompeii has yielded a fresco, now in the Naples Museum, in which bands of pygmies hunt crocodiles while others are consumed by hippos, and yet others copulate energetically on the banks of the Nile. These Roman pygmies are not deformed, but rather have the large heads and spindly limbs of emaciated three- or four-year-old children. The oddness of these images is perfectly excusable, since none of the artists had ever seen a pygmy; they were depicting the fabulous by appealing to the familiar. More surprisingly, as recently as 1960 a leading anthropologist and expert on pygmies asserted that they are small because of an achondroplastic mutation. Little is known about what makes pygmies short, but this is certainly wrong.

  That pygmy proportions are not the result of any known pathology is clear from the skeleton collected by Emin Pasha. It shows that pygmies have limbs that are beautifully proportioned, but that differ from those of taller people in subtle ways. The action of natural selection over the course of tens of thousands of years has made a form more gently sculpted than the dramatic mutations familiar to the clinical geneticist. Studies of children fathered by tall African farmers on pygmy women suggest that pygmy smallness is probably not due to a single mutation, since the children have a height intermediate to that of the parents. So several genes are probably responsible for pygmy shortness. We do not know what these genes are, but we do have some idea of what they do. Careful measurements of pygmies (and thousands of them have been measured) show that compared to taller people, pygmies have relatively short legs but relatively long arms. They also have heads and teeth that are relatively large for their torsos. They have, in fact, not only the height, but also the linear proportions of an eleven-year-old British child.