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Rare disease afflicts Brazilian village

ARARAS, Brazil (AP) - This is a village where the people melt away.

Tucked into the sunbaked rolling hills of Brazil's midwest, Araras is home to what is thought to be the largest single group of people suffering from a rare inherited skin disease known as xeroderma pigmentosum, or "XP."

Those with the disease are extremely sensitive to ultraviolet rays from sunlight and highly susceptible to skin cancers. It robs victims of the ability to repair the damage caused by the sun.

That's a particularly vexing burden in Araras, a tropical farming community where outdoor work is vital for survival.

Rare Disease Afflicts Brazilian Village

"I was always exposed to the sun - working, planting and harvesting rice and caring for the cows," said Djalma Antonio Jardim, 38. "As the years passed my condition got worse."

Agriculture is no longer a real option for Jardim. He survives on a small government pension and meager earnings from an ice cream parlor he runs.

XP shows early signs that it has taken hold of its victims.

Jardim said he was just 9 when a large number of freckles and small lumps started appearing on his face, the tell-tale signs that experts say signal XP is present in children and call for measures to protect them against the sun.

Such precaution wasn't taken for Jardim, who now wears a large straw hat in an effort to protect his face. But it's helped little. He has undergone more than 50 surgeries to remove skin tumors.

In an effort to camouflage how the disease has eaten away the skin on his lips, nose, cheeks and eyes, Jardim wears a rudimentary orange-tinted mask, its stenciled-in right eyebrow not matching his bushy real one that remains.

Beyond skin damage and cancers, about one in five XP patients may also suffer from deafness, spastic muscles, poor coordination or developmental delays, according to the U.S.-based National Cancer Institute.

More than 20 people in this community of about 800 have XP. That's an incidence rate of about one in 40 people - far higher than the one in 1 million people in the United States who have it.

For years, nobody could tell Jardim or the others what was afflicting them.

"The doctors I went to said I had a blood disorder. Others said I had a skin problem. But none said I had a genetic disease," Jardim said. "It was only in 2010 that my disease was properly diagnosed."

Experts say Araras has such a high incidence rate because the village was founded by only a few families and several were carriers of the disease, so it was passed to future generations as villagers intermarried.

For instance, both of Jardim's parents were carriers of the defective gene that causes the disease, largely ensuring he would have it.

Gleice Francisca Machado, a village teacher whose 11-year-old son, Alison, has XP, has studied its history in the area and says she found cases of people having the disease going back 100 years. She has started an association that educates locals about XP and tries to get parents to take extra care for their children, even if they may not have outward signs of the illness themselves.

"The sun is our biggest enemy and those affected must change day for night in order live longer," Machado said. "Unfortunately, that is not possible."

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no_freedomof_speech May 06 2014 at 11:29 AM

Watch they will want the us to help and send money

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Joy May 06 2014 at 12:20 PM

This is so sad, I wonder if they can move the afflicted to a less sunny part of the world. It would be difficult but perhaps it would help with further degeneration.

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Loc Dinh May 06 2014 at 12:20 PM

Can I help them?

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3 replies
gschnauzer16 May 06 2014 at 12:28 PM

Think your having a bad day? Think of these poor souls

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serious.stuff May 06 2014 at 1:06 PM

For those who are not comprehending the article: Take a blood disorder commonly known as "Mediterranean Anemia." Before a couple decides to have children, if one of those prospective parents either has or is descended from a person with the disorder, it is imperative that the partner be tested for the trait or gene. If not, and if the baby gets it from both parents, I was told the life expectancy is about 8 months. And that is not inbreeding that is from families that came from different parts of the world. If it can happen that way, surely you can see how this can occur with limited partner choices.

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WatergirlHawaii May 06 2014 at 1:26 PM

From the XP Society website:
There is no cure for XP. The DNA damage is cumulative and irreversible. Management is limited to avoidance of exposure to damaging UV radiation by staying indoors with sunlight blocked out, and use of protective clothing, sunscreens and sunglasses.

DONATIONS ARE NEEDED (clothing sunglasses, sunscreen, first-aid supplies, medicines, bandages, toys, shoes, socks, money for food & supplies) !
*Clothing, sunglasses, and toys do not need to be new; but everything should be in usable condition. Please send any contributions to:
XP Society Global Appeal
437 Snydertown Rd., Craryville, NY 12521

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1 reply
WatergirlHawaii WatergirlHawaii May 06 2014 at 1:31 PM


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vtmilitia May 06 2014 at 1:30 PM

Small remote village, limited gene pool, there you go.

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Phyllis May 06 2014 at 2:09 PM

Looks more like Leprosy and inbreeding. So sorry for those people afflicted how awful for them.

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1 reply
Fran Phyllis May 06 2014 at 2:31 PM

sort of like blonde hair and blue eyes which is a genetic ibnormality caused by inbreeding.

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1 reply
muffin Fran May 06 2014 at 6:21 PM

Not entirely. Yes, both of those traits are RECESSIVE, but not mutated.

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Phyllis May 06 2014 at 2:12 PM

People make sure your children are vaccinated against polio, it is very prevelant right now, we do not need this again. I had to be vaccinated before I came into this country so why are people coming in without being vaccinated. We have no idea what is coming in across the border either.

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Hollyh1125 May 06 2014 at 2:45 PM

It's amazing how ignorant people are....

FYI, A gene mutation can happen at any time regardless of known variables.

Now, I do feel that these individuals should take proper precautions to stop passing on the gene. For certain, if their healthcare can afford 50 surgeries they can take a few precautions towards preventative care so more are afflicted with this terrible condition.

Flag Reply +2 rate up
2 replies
Hollyh1125 Hollyh1125 May 06 2014 at 2:46 PM


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TomHornbuckleJr Hollyh1125 May 06 2014 at 4:32 PM

Genetic mutations aren't more common among inbred populations?

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