Venezuelan village key in search for Huntington's cure
The village of Barranquitas in Venezuela has the highest concentration of Huntington's disease, a devastating brain condition, in the world. The BBC's Will Grant accompanies a US scientist there as she continues her life's work to find a cure.
Dr Nancy Wexler has been coming to Barranquitas for many years Angela staggers across Barranquitas under the blistering sun to reach the children's lunch hall, her matchstick-thin legs struggling to support her frail frame.
Although it is a small village, it is hard work crossing it when your limbs won't do what you tell them to.
But Angela is determined to make the effort because an old friend has just arrived.
HUNTINGTON'S DISEASE
- Hereditary neurological disorder
- Causes progressive degeneration of cells in brain
- Slowly impairs ability to walk, talk, think, or reason
- Symptoms usually appear between age 30 and 50
- Person has 50% change of inheriting the gene if a parent has HD
- No cure to date
That friend, American scientist Nancy Wexler, has been travelling to Barranquitas for more than 30 years.
She is sure it holds the key to an answer she has been looking for her entire adult life: a cure for Huntington's disease (HD).
For Dr Wexler this is more than an academic pursuit or a career goal, it's a family obsession.
"My mother died of Huntington's and she was a scientist. My father was a scientist too, and so we said 'let's find a cure','" said Dr Wexler.
"And we still say that. You can't get up in the morning without having hope and confidence that the cure is just around the corner."
As the daughter of an HD sufferer, she has a one-in-two chance of carrying the fatal genetic flaw herself.
Huntington's is an incurable and fatal hereditary disease which causes the sufferer to lose control of their muscles.
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Nancy Wexler explains what motivated her to seek a cure
It develops into serious problems with swallowing and many patients die from choking or malnutrition. Beyond the physical symptoms, deep depression can often take hold.
It affects 1 in 10,000 people, but in Barranquitas, a remote location where over the years there has been much inter-marrying between few families, the rate is more like 1 in 10.
Some 1,000 villagers already have fully-blown Huntington's; many more carry the gene.
Such a high concentration of Huntington's patients made it the backbone of Dr Wexler's research.
Her research in Venezuela was crucial for the breakthrough in 1993 when the abnormality that causes HD was identified: a single defective gene on chromosome 4.
Ciro Soto is one of the villagers whose DNA and family history helped that discovery.
Dr Wexler met Mr Soto when he was just eight years old. Now almost 40, his body twitches uncontrollably from the disease.
"Ciro was a wonderful drummer, very athletic, a beautiful fisherman," said Dr Wexler.
"Both of Ciro's parents had Huntington's," she explained. "There were 14 siblings and 10... have Huntington's. Some of them have unfortunately already died of the disease."
Tough lifeDespite the breakthrough, the team had not been back to Venezuela since 2002 given the strained ties between the Bush administration and President Hugo Chavez.
There is still no formal protocol with the Venezuelan government for removing the DNA samples Dr Wexler needs.
But in a positive development, the Venezuelan Health Ministry sent a representative to Barranquitas to meet her.
"I think Dr Wexler's persistence has been admirable," said Dr Federico Savinon.
Casa Hogar is a care home looking after some 50 people While acknowledging there been some "difficulties in working together", Dr Savinon said that "the ministry and the health minister herself, Col Eugenia Sader, are completely disposed to reopening a space for joint work with Dr Wexler".
However, Dr Wexler and the people of Barranquitas have heard such promises before.
Successive health ministers have voiced support for the research, but the New York-based team are yet to see any serious progress on the signing of the protocol for the research.
Life in Barranquitas is tough. The government has provided new housing for some families, including Ciro's.
But most Huntington's sufferers still live in deep poverty while simultaneously trying to deal with the fatal illness.
In 1999, Dr Wexler co-founded a care home for HD patients outside the state capital, Maracaibo.
Built on the site of the "roughest bar in town", the Casa Hogar is a haven for more than 50 people whose families can no longer cope.
Everyone who works there has relatives with Huntington's sufferers. Many of them don't know if one day they may develop the disease too.
Dr Wexler's long association with Barranquitas gives her hope The Casa Hogar is facing a chronic lack of funding, possibly even closure. Still, Dr Wexler remains confident that one day it won't be needed.
"We never know when some miraculous discovery is going to be made," she said.
"There are science breakthroughs on the horizon and happening now so I am very hopeful about the cure in the near future."
When Angela made it to the lunch-hall, she was greeted with a huge hug by Dr Wexler.
Despite the setbacks, Dr Wexler is optimistic that Angela's grandson, who is also at risk of the disease, will have more of a chance at a cure than she did
