The world's only centre for people with Huntington's disease faces closure through lack of funds less than a year after it was set up. The disease affects only 1 in 10000 people worldwide.
But in the tiny, poor, fishing villages around Lake Maracaibo in Venezuela, up to 40% of the population is at risk. At least 1000 people in the area are showing symptoms of the disease. Nearly 3000 more are presymptomatic. Symptoms usually start with slight clumsiness, developing into incontinence, depression, total inability to move or talk, and dementia.
Death is usually caused by heart failure or pneumonia. All those affected are descendants of a 19th century couple who had 20 children. There are now 16000 descendants. Those affected are often shunned by the community, and many believe they are the victims of witchcraft. Such social stigma forces them to intermarry within the disease group, increasing the risk to their children—from 50% if just one parent has the disease to 75% if both do. Prostitution, which is widespread, is also a problem.
For scientists, however, these villages are a goldmine. International researchers spend several weeks each year in the area, which was crucial in the 1993 discovery of the gene for the disease on the end of chromosome 4. It contains a continually repeated stretch of DNA, which causes a “genetic stutter.”
Last November a care home, Casa Hogar, was set up in a district used by sex workers in the outskirts of Maracaibo, Venezuela's second largest city. Dr Margot Mejia de Young, who runs the home, had hoped that its presence would help to develop a cure or at least a treatment for the disease. Casa Hogar is currently home to 18 patients, with another 70 walk-in patients every day. However, said Dr de Young: “We have at least another 35 people in a really critical state, but we can't afford to take them in.
“We need nappies and antidepressants; we need money to pay the staff; and we need specialised beds. Without these we're not legally allowed to take in more patients. We can't even pay for food, because the patients' metabolism increases so much that they need seven meals, or 5000 calories, a day.”
At one point, patients' families even had to surround the home, armed with broken bottles and knives, to repel a contractor who wanted to reclaim beds which had not been paid for. In the absence of a cure, the only sure action against Huntington's disease is to avoid having children. Dr de Young wants to set up a sterilisation centre and has 200 women on a waiting list—but again, has no funds. “Our monthly costs are 10 million bolivars [£9600; $14400], but at the moment we're just surviving on love,” she said.
She continued: “Venezuela is in the midst of an election year, and no one is interested in the centre. Governors are spending money on electioneering and civic beautification projects.”
The centre has received donations and help from the Shell oil company and the Hereditary Diseases Foundation in Los Angeles, but these can act as little more than stop gaps.
Dr Nancy Wexler, director of the Hereditary Diseases Foundation, said: “The Casa Hogar has enormous potential for continuing research. As a venue where new treatments can be tried as soon as they are discovered, it is unequalled, and as a safe haven it is a necessity.
The genetic science these people helped to launch has become ever more powerful, yet their plight has become ever more perilous. They helped start a vision and a promise of a better future for all of us—and they deserve their own.”
Figure.
ALFREDO CEDEÑO/PANOS PICTURES
Children going to school in the Maracaibo area, Venezuela