By Peter Popham
High in the Italian Alps above the Venetian coast is a village where people do not fall ill. They eat red meat, they drink wine and grappa, many of them smoke, but the crippling, much-feared diseases of civilisation pass them by. They have high cholesterol because of their diet, but it doesn’t lead to heart attacks. Hypertension is almost unknown. Very few suffer from diabetes. Cancer is rare. Genetic disease is unheard of.
The village is called Stoccareddo, and it is Italy’s Shangri-La. Yet no one ever goes there because it is the end of the road. For about 800 years, since a couple of Danes, or so it is believed, pitched their tents on this high outcrop nearly 1,000 metres (3,000ft) above Venice (which on a clear day you can see), the people of Stoccareddo have kept themselves to themselves. And how: 97 per cent of the population bears the same surname, Bau. Endogamy – marrying with-penine passes in Tuscany or Umbria, in the community – is still nearly universal. “Only a Bau can understand a Bau,” goes the local saying. “The entire village throughout its history,” says one scientist who is studying them, “fits on a single family tree. It’s one huge family.”
Stoccareddo has suddenly become famous because, while in the rest of the world we are obsessed with the ills of civilisation, Stoccareddo doesn’t have them. Three years ago scientists trying to learn more about the genetic causes of rare diseases stumbled on the place.
For them its value was that it was a genetic island, which made it an ideal test bed for research into DNA. But quickly they discovered this other remarkable fact, that the people are incredibly healthy. They eat, they drink, the pensioners play cards in the local bar (and knock back pros-ecco at tea time), the children play football in the street, women take down washing and smoke and gossip. It is all intensely normal. Except for this extraordinary, blessed fact: the people go on and on. “Horses die, not Baus,” the locals say.
I pulled into the village piazza on a sunny October afternoon. It was not what I had expected. Stoccareddo, I had understood, was high up and far away, immensely remote and hard to get to. I had in mind the sort of villages you find in remote Appenine passes in Tuscany or Umbria, all grave grey stone covered in orange lichen and aged crones bent at the waist. Stoccareddo wasn’t like that at all. For one thing it wasn’t remote: Gallio, the neighbouring large village of which it is an administrative frazione, is 10 minutes away by car. Asiago, a tourist town that draws thousands of people from the plains escaping the heat of summer or coming up to ski, is only a few kilometres further on. We are talking high plateau here, not vertiginous mountain passes. Under the autumn sun, with the foliage on the slopes beginning to turn, the area is blindingly beautiful.
Stoccareddo, however, is not. Don’t go expecting the picturesque, which in Italian villages tends to go with dwindling populations, no new babies in decades, and Brits and Germans lining up at the offices of the im-mobiliaristi waving their chequebooks. Stoccareddo is not moribund like those pretty villages we covet: it is energetic and prosperous, teeming with children, and rather ugly.
I got out of the car and introduced myself to three old men sitting on a bench on the promontory that looks across to the mountains. Fortunato Bau, 68, beaming and ruddy-faced, took me in hand. Like hundreds of Italian villages, Stoccareddo does not offer enough work to keep its population busy. For generations they have been going away to work, especially as miners.
Fortunato went to France as a young man, stayed eight years and came back with enough capital to set himself up in the building trade. He’s been making money ever since, and is now the owner of a large slab of housing at the bottom of the village. He’s pretty typical of the village which, with a population of 390, has nine little firms specialising in making roofs and three factories, two turning out trousers and one flower vases. “They’re not lazy people,” said Fortunato’s son Wimer, 32, a village councillor, “they roll up their sleeves.”
Most of the village houses are modern, hulking, imitation chalets, all recently built or modernised. In the evening the village street is lined with newish cars. Stoccareddo is not, therefore, a case of Tibetan-type isolation, a la Lost Horizon. But until a couple of decades ago it was far more isolated than it appears today. Until then it was not possible to drive by car to Gallio and the only way out of the village was down “4,444 steps”, I was told, to the nearest railway station. “We’d come back from where we were working in November,” said Fortunato, “and stay at home until March, by which time our money had run out. Then we would set off again.” But more than physical remoteness, the key factor in the village’s genetic health would seem to be its cultural isolation and homogeneity: the men might spend months working far away, but they would invariably marry a local woman, and raise their families in the village.
Even today, with the outside world so temptingly close, most marriages are within the community. Which raises a ticklish question: isn’t all that intermarriage supposed to be a bad thing, genetically speaking? Think Romanoffs, think haemophilia and chinless wonders …
“Those are royals, and different rules apply,” said Uros Hladnik, one of the geneticists who is studying the village population. “They always had expensive health care, there was not the selection of healthy mates. If the in-breeding started a long time in the past, as it did in Stoccareddo, all the bad genes must have been flushed out. Today there is not a single case of genetic disease to be found among the Baus.”
Dr Hladnik works for the Baschirotto Institute for Rare Diseases (Bird), whose tireless work is the reason Stoccareddo is becoming so famous.
And with him we descend from the mountains to the plains, and from the calm joy of being disease-free to the complicated and desperate hell of rare genetic illness.
In 1970, Anna Baschirotto, a teacher of Italian literature, gave birth to a son, Mauro. Within a year it transpired that the baby was incurably ill, but no doctor could tell her why. The symptoms were terrifying: the disease retarded his growth, gave him incessant skin, nail and hair problems and weakened his immune system, making him vulnerable to every infection. Ms Baschirotto and her husband, Guiseppe, wrestled with the illness for 15 years, and with the paucity of resources, the weakness of diagnosis and the scarcity of medicines available for such rare conditions. At the age of 16, Mauro died. “It was a real Calvary,” Ms Baschirotto says. “He was very sweet and very intelligent. No one knew his illness was genetic until 10 years after his death.” Today it is identified as Apeced syndrome. Still there is no cure. The bereaved couple’s life was transformed by the experience, and after his death they set up a foundation to bring to others afflicted with rare conditions the sort of help they so dramatically lacked. Bird operates inside Italy’s national health system, though it also is in need of private funding.
“For 15 years we struggled against his disease,” Ms Baschirotto said, “and when he died we decided to devote ourselves to helping others in the same situation.” The couple raised money and bought an old convent outside Vicenza which is now their headquarters.
Here they offer speedy diagnosis, outpatient care and therapy and the chance for victims of incredibly rare conditions to come together and discover that they are not alone in the world. They host, for example, groups of children with Lesch-Nyhan disease, which produces the symptoms of acute gout in the legs, and gives the children the compulsion to bite and hurt themselves and others, meaning their hands must be permanently restrained. Or sufferers from the equally terrible Prader-Willi syndrome, which stunts growth, enfeebles muscular development, and makes the victims constantly and insatiably hungry.
The sufferers are also seeking cures but the common factor in these diseases, apart from their cruelty and complexity, is that because they are so rare no pharmaceutical company is interested in devoting millions to curing them.
“It was a forgotten area of medicine,” Ms Baschirotto said. “Not much work had been done on rare diseases, it was not interesting for the pharmaceutical world. There was no profit in producing the medicines – it was only good for the patients themselves. But we have a different mission from the pharmaceutical companies. I don’t criticise their mission, which is profit, but ours is different.” The Baschirottos set about trying to do what the commercial world would not, filling the old convent with laboratories and hiring a staff of high-powered geneticists to conduct cutting-edge research.
It was the compassionate work of her institute that brought Ms Baschirotto to the Alta Valsugana region, where Stoccareddo is located. “A little girl called Angela, who lived in Asiago, near Stoccareddo, died of genetic disease two-and-a-half years ago,” she remembered. “We got to know the area and we got to know Stoccareddo and we learnt about its unique genetic inheritance.” It is not unusual for villages in this region, the Valsugana, to be dominated by a single surname. “There are others round about,” said Don Giampaolo, Stoccareddo’s priest. “In the village of Zaibena there are many Marinis; in Asiago there are 2,000 Rigonis out of a total population of 6,000; in Sasso the dominant name is Rossi.” But nowhere is the domination so complete as in Stoccareddo.
“We came here,” said Ms Baschirotto, “because it is a genetic island and we thought it could be useful at the genetic level for our work into the prevention of genetic disease. There are genetic lessons to be learnt here that can be of value not just to us and our patients but to all humanity. A local doctor introduced us and helped us to get the villagers’ trust.”
They took blood and other medical samples from the whole village – and slowly the stunning picture of a village free from disease was revealed. A village, for example, with a classically heavy, over- rich, over-meaty diet, but with none of the associated problems. Far more men in the village have high cholesterol than the Italian average, 38 per cent as opposed to 21 per cent. But while 23 per cent of Italian males have problematically low levels of HDL, the “good” cholesterol that helps prevent heart disease, only 5.4 per cent of Stoccareddo have this problem. Hypertension is a problem for 33 per cent of Italian men and 31 per cent of Italian women; the figures for Stoccareddo are 6.5 and 5.5 per cent respectively. “We found many villagers with high cholesterol,” says Dr Hladnik, “but a very low incidence of the problems connected with high cholesterol. Something is protecting them from the complications that normally result from high cholesterol. It’s our job to find out what.” Meanwhile the Baus are sitting back and basking in their new fame: rarely in my experience has journalistic nosiness been accorded such a joyous welcome. Fortunato actually invited me to stay the night. When the idea was shot down by his wife Teonilda (another Bau, needless to say), he poured me an afternoon campari soda and belted out one of the village songs.
(c) 2006 Independent, The; London (UK). Provided by ProQuest Information and Learning. All rights Reserved.
Comments