A tiny Mayan girl named Lydia sat in the darkened doorway of her home in the highlands of Guatemala. She was trying to escape the sunlight.
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a rare genetic skin disorder that afflicts
an alarming number of Mayan children
in rural Guatemala
A thin towel draped over her head served as a hood, but the sun is strong in the Guatemalan mountains and it offered little protection. One glimpse at Lydia made it obvious: There had been no escape. The sun was killing her.
Her head and neck were a mass of tumors, open wounds and flaking, mottled skin. Much of her nose was missing.
Lydia's mother, Natividad, speaking in the soft clicks and clipped vowels of the Q'anjob'al dialect, said Lydia was feeling a little better, after donated medicines helped clear up some of her worst infections. Still, she cried inconsolably many days and nights.
"I think she's suffering," Natividad said. "She cries when she is in pain."
Flies circled. Lydia sat quietly, legs swinging, head bent so her chin nearly touched her chest. When she raised her face, her sun-blinded eyes, white and opaque as chalk, stared out from under the makeshift veil like eyes of the dead.
"We have had much sadness," Natividad said. "God needs to help us with these children."
Lydia has a rare genetic disorder called xeroderma pigmentosum, or XP. Children with XP can't tolerate the ultraviolet radiation in sunlight. Even a few minutes of sun can cause cell damage that inevitably turns to cancer.
Only about 1 child in 1 million has XP. Yet Lydia is one of 26 children in her village -- including four of her own siblings already dead -- to develop the nightmarish tumors and lesions of untreated XP.
These children form one of the most unusual -- and most neglected -- disease clusters in the world. It could offer researchers a rare chance to learn more about how XP is spread, and how subtle defects in the skin's ability to repair sun damage may lead to skin cancer, even in people without XP. But scientists realize that research will have to wait. In this remote village of subsistence farmers, XP is hardly the only problem.
In a village where all children lack adequate shelter, nutrition and education, it has proved difficult even to get simple pain relief to the unlucky ones who appear to be slowly burning to death.
Villagers -- who often don't use traditional last names and don't keep birth or marriage records -- initially regarded the disease as a curse visited upon certain families.
Now, they understand it as something passed down from afflicted ancestors, "something in the blood," as one father put it.
Either way, it is one more burden to endure.
"In the U.S. we have the resources for protective clothing, for things like a home that can keep out the UV light, for sunscreens and access to good medical care," said Dr. Jean Tang, a Stanford Medical School dermatologist who visited the village in 2002. "So in America, children with XP can live to their 40s and 50s, and lead somewhat productive lives.
"Here, all these kids die by 10 or 12," she said. "And it's a terrible, slow death.
"The last couple of years, they're dying, and they can't see. And so they just sit there."
Lydia's village is in the Huehuetenango district of northwestern Guatemala, a torturous 12-hour trip by four-wheel drive from the capital, Guatemala City. In good weather, it's a quick charter flight to the town of Barillas, and then a two-hour drive.
A Chronicle reporter and photographer made the trip with Peggy Tuttle, a missionary from Sultan, Wash. The founder of a nonprofit group, Good Samaritan International, she has been trying for five years to get medical and other aid to the children and their families.
Because some local publicity attracted gawkers, the village was not to be identified, and families' last names would not be used unless parents agreed.
The XP cluster was discovered in 1999 when families from the village brought 10 children to a health clinic in Barillas. Health workers at first suspected they had a form of leprosy.
Tuttle, who had worked with the clinic for several years, arranged for a charter plane to take the three worst cases to a government hospital in the city of Huehuetenango. To allay fears of the pilot, the children wore masks. The plane's seats were covered with plastic.
Maria Pedro, the daughter of Francisco Pedro, had a tumor the size of a grapefruit growing from an eye socket. Francisco spent two months with her before she died in the hospital. The other two children went back to the village. Doctors said they could not help them.
For the next two years, Tuttle consulted many other doctors, eventually finding a Guatemala City dermatologist, Dr. Carlos Cordova, who was the first to suspect XP. He has since retired.
That suspicion led Tuttle in 2002 to San Francisco and the UCSF laboratory of James Cleaver. A professor of dermatology, he is a leading expert on XP and DNA damage caused by ultraviolet radiation.
Cleaver immediately recognized a phenomenon known as the "founder's effect": Early settlers of the isolated area, arriving 80 to 100 years ago, must have carried the XP gene, which then spread through generations of intermarriage.
The XP gene mutation is recessive. Both parents must pass on the same mutation for a child to develop the disorder. If only one parent passes on the mutation, the child becomes a carrier -- healthy but able to pass it on.
Tang suspects half of the 1,300 or so people living in or around the village may be carriers. But no one can really know without DNA studies.
Some experts suspect the XP mutation may increase the risk of skin cancer even in carriers, but it is not easy to find carriers to study. If scientists could examine the DNA and family ties of the Guatemalan villagers, hundreds might be found in one location.
"There's always been controversy as to whether the XP carrier state increases the risk for skin cancer," Cleaver said.
"In this location, where the solar exposure is so extreme, if we tracked every individual we could, and knew whether they were carriers or not, and could have them evaluated dermatologically, we might be able to answer that question very directly."
Dr. Kenneth Kraemer of the National Cancer Institute has begun to study the issue in the United States. So far, he has enrolled about 200 XP patients and family members. He hopes to evaluate about 800.
Kraemer, interviewed by telephone, was dubious about the prospect of launching such an investigation in Guatemala. Just getting proper informed consent would be next to impossible, he said.
"Clearly one must support any effort to help get medical care to this unfortunate community," he said. "But as for the more widespread ramifications, doing any kind of scientific research or genetic manipulations, that raises a whole other set of problems not easily solved, and maybe best avoided altogether."
Cleaver said he is well aware of how little a scientist in San Francisco can do to help the Guatemalan children, let alone start significant research. He has already had one grant proposal rejected because he could not show adequate resources in Guatemala.
In the Guatemalan highlands, Mayan villages were ravaged by civil war for nearly 40 years. Even basic health care doesn't reach all who need help. Guatemala recently dropped to 121st, from 119th, among 177 countries that the United Nations ranked for national living standards, based on such measures as child and maternal mortality, nutrition and access to health care.
"You have Guatemala hovering with Haiti as the poorest country in the entire hemisphere," said Matthew Kennis, who spent years in Guatemala as a human-rights observer and now is based in Washington. "There is very little in general for anybody, and even less for the Maya communities."
XP was only a medical diagnosis. The real problem, Tang said, is poverty and isolation.
She wrote her doctoral dissertation on a form of XP, devoting years of study to the biochemistry of DNA repair and UV radiation without ever meeting an XP child. Near the end of medical school in 2002, she talked to Cleaver about a residency at UCSF. She happened to mention that she was about to spend part of her summer vacation studying Spanish in the old colonial city of Antigua, near Guatemala City.
Tuttle, the missionary, was looking for a skin-disease specialist to visit the village and examine the children. Cleaver suggested that Tang make the trip and collect DNA samples, so he could confirm the XP diagnosis and isolate the particular forms of mutated genes.
Tang expected it would be easy in Guatemala to find the rudimentary supplies needed to collect blood samples. Instead, it took a frantic search of every medical clinic in the area.
"We went running around Barillas looking for clinics," Tang said. "We needed special tubes to collect the blood, so the blood wouldn't clot before we got it back to San Francisco." She finally found a box of expired tubes, donated a couple of years before and never used. She went back to the village, gathered as many children and their fathers who were willing to go, and returned to Barillas.
There, on a Friday evening, she collected samples from five children, representing three families, and boarded a chartered Cessna to Guatemala City. She was in California on Saturday and in her lab the next morning.
Tang spent most of the day isolating and preserving the white blood cells Cleaver needed. He quickly confirmed XP.
For Tang, a Taiwanese immigrant who grew up amid the poverty of East Los Angeles, the difficult trip into the Guatemalan highlands was a jolt.
"I knew all about the cells of these children," Tang said. "I knew about their genes. But I had never actually seen a patient before. I was shocked."
She also was angry, realizing that nearly all the skin damage of XP can be avoided simply by keeping children out of the sun.
"How can their families allow this?" Tang said. "How could their village, how could Guatemala, let it come to this? It makes you want to do something. And then you come back home and feel guilty because you aren't doing enough."
The Q'anjob'al live in compact clusters of homes in clearings hacked by machete out of the hillsides and jungle. Many villages were vacated during the war years. Although the shooting has stopped, some houses still seem abandoned.
Women in traditional wraparound skirts walk barefoot down the dirt roads, baskets balanced on their heads, children in slings tied over one shoulder. They wash laundry on large flat rocks beside creek banks and spread it to dry on the metal roofs of their houses.
Small plots of corn, coffee trees and bananas grow everywhere, mixed into the woodlands. Old men and women walk along bent nearly double under the weight of large bundles of wood on their backs. Nearly all men walk with a machete by their side.
The roads are so narrow that when vehicles meet, one must turn into the ditch. On blind turns, drivers honk their horns but don't slow down. Drivers often cram 15 or 20 people into the back of small trucks, stragglers standing on bumpers.
Lydia's village emerged suddenly, around a turn in the road.
There was a school and soccer yard, a brightly painted wooden church and a cinder-block building that visiting health workers used as a clinic.
Houses of one or two rooms were crowded together, as if holding each other up. Walls were rough planks spaced wide to allow wood smoke to escape. Floors were hard-packed dirt. The few pieces of furniture were handmade of rough wood. Telephone service arrived two years ago, but very few people have phones.
At the home of Caņo and Candelaria Delgado, Calancha, 4, Ester, 7, and Isabela, 13, were all sick with XP. Three children in the same family had already died of the disease. Two others appear to have been spared.
Calancha and Ester were playing on swings inside a tentlike structure their father had made from wooden poles and blue plastic sheeting, an attempt to shield them from sunlight without cooping them up inside on hot days.
Ester, Caņo said, had been in much pain lately. The girl's eyes were seared by sun damage. She had dark spots all over her face, some scabbed over, and complained of pain in her head.
It was dim in the tent, yet plenty of damaging sunlight was making it through the plastic. Oblivious, the two girls were giggling, happy to be given a new doll and some chewing gum by Tuttle, who had also brought large bottles of vitamins.
"The children are happier in the darkened place," Caņo told a translator. "When they're outside, their eyes really hurt them. We are aware now that the sun is what's causing their problems. But it's hard to keep them in the house all day."
XP was not the family's only health issue, he said. Candelaria was eight months pregnant and "having a lot of pain." Caņo was not feeling well, either.
"It's been very bad the past few months," he said. "Isabela, for two months, couldn't get out of bed. The children have been crying all night in pain."
Paula and Enrique Juan live close by. Wooden racks held beans drying in the sun. Dishes were stacked around a big concrete sink outside. Enrique is Candeleria's brother. He and Paula had two healthy-looking children and 3-year-old Maria, who has XP.
Maria had been complaining of pain in her eyes. She draped a towel over her head when she went outside. Enrique said he was hoping to get umbrellas. For now, towels had to do.
He and his wife were discussing whether to have more children. They understand their next child may also have XP. Enrique said they have "no way to plan this."
He went as far as second grade. Paula never went to school. Both worked in the fields most days, while Enrique's mother looked after the children. Enrique said he was not optimistic about his 3-year-old's prospects. "Without help, she will die," he said.
Nearby were Carmelino Antonio Delgado and his wife, Isabel, both in their late 20s. Two-year-old Juan was already showing the telltale freckling on the face. Juanita, 8, was critically ill, her face and eyes ravaged by sunlight.
Juanita sat with her father under a covered walkway. "I understand she cannot go out in the sun and needs to stay in the shade," Carmelino said.
It was late morning, the sky clear, the air growing hot and steamy after heavy rains. Carmelino was told that sunlight can penetrate into shaded areas."How then can you defend your child?" he demanded. "I think she is protected here in this walkway, but now you are telling me that is not the case? We don't have big houses. We don't have a place to put these children."
Rising at night to care for a "child of the moon" was out of the question, he said. "Here we work in the day. Maybe where you live there is work you can do at night. But here, our only work is in the daytime."
Lydia's home was a short distance by car. Outside, a few scrawny chickens scratched in the scant shade of banana trees. Even scrawnier dogs paid them no heed. The house had no electricity, no plumbing. Natividad said there was no money for medicine, little even for food. Lydia's father, Lorenzo, harvested coffee and cardamom spice for 20 quetzales a day, about $2.50.
Lydia kept rearranging the towel on her head. She scarcely seemed to notice the flies. The smell of infection was all around her. Anyone could see she had little time left.
"Life for us has been very difficult here," her mother said. "We are so tired of looking for help."
No one had money for special hats and sun-shielding clothes. It's hard to afford meat or vegetables to supplement the beans and handmade tortillas.
"We feel a lot of pain for Lydia and the other ones who have died," Natividad said. "We are trying to give this child what she needs. But how can we give this many sick children what they need?"
A few years ago, when the prices of coffee and cardamom spice were high, Lorenzo saved enough money to visit local curanderos, traditional healers. They performed rituals and rubbed potions on the disfigured faces of the children.
Natividad said all this accomplished was to make the family even poorer. She said her four other XP children died when they were just months older than Lydia, who is about 6, their systems apparently overwhelmed by advancing infection. None of them was ever seen by a cancer specialist.Tuttle insisted that a pediatric cancer facility in Guatemala City was offering to set up arrangements for the families. The first three or four children could be evaluated that very week if Tuttle could somehow get them to Barillas and then on to the capital.
Donations might be found, she said, to pay for transporting and treating the children. It might even be possible to move entire families to be near the hospital. Perhaps jobs could be found for the fathers.
"Many doors are starting to open," Tuttle said.
Lorenzo, Lydia's father, arrived just as the missionary and Natividad were setting plans to discuss the possible medical treatments in more detail the next morning along with other XP families.
Women here do not often speak when their men are present. Natividad fell silent. Lorenzo picked up his daughter. She clutched at the front of his shirt.
He began to speak rapidly in Q'anjob'al. The interpreter, Maria Andres, a young Mayan woman who helped Tuttle deliver medicines and food, could not begin to keep up.
It was clear that Lorenzo was angry. He told Tuttle he saw no reason to risk his livelihood to try to save one daughter.
"Four children have died in this family," Lorenzo said, as best Andres could recall his words later. "We have a lot of experience with this sickness.
"I have no time to be going to hospitals," he said. "I have to work."
He politely shook hands and smiled, signaling it was time for the strangers to go.
At UCSF, Cleaver still hopes to be part of a team, if one can be assembled with medical providers in Guatemala, to provide medical service and disease prevention, along with some limited research. He would offer laboratory assistance and train health workers to collect DNA samples.
Whether the financing and ethics of this can be worked out is an open question.
"There are two halves to this," Cleaver said. "We can do the genetic analysis, we can do the DNA sequencing, the data collection, that side of it.
"Down there, somebody has to have good enough rapport with the villagers to explain what we're doing and why it might be beneficial to them -- as well as helpful scientifically."
He understands why there might be resistance.
"Too often people have jumped into an impoverished area, gotten some scientific information or whatever they wanted, and then left," he said.
By mid-November, Tuttle had managed to transport four children to the Guatemala City hospital. Isabela went twice. Doctors said they wanted to bring some of the worst cases back for six weeks of intensive treatment.
In October, a new baby girl, Martha, was born to the Caņo Delgado family. No one knows yet if she has XP.
Lydia still had not been taken to the hospital. Her family, Tuttle said, has not wanted to leave the village.
"We send what medicine we can," she said.
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A tiny Mayan girl named Lydia sat in the darkened doorway of her home in the highlands of Guatemala. She was trying to escape the sunlight.
Back to the Americas Menu
Notice: TGS HiddenMysteries and/or the donor of this material may or may not agree with all the data or conclusions of this data. It is presented here 'as is' for your benefit and research. Material for these pages are sent from around the world. If by chance there is a copyrighted article posted which the author does not want read, email the webmaster and it will be removed. If proper credit for authorship is not noted please email the webmaster for corrections to be posted.