Mayra Nieve is used to being ostracized and called names as an albino.
What she fears is not being able to breathe.
Nieve is among hundreds of Puerto Ricans who have a rare type of albinism that leads to a deadly lung disease. Sufferers such as Nieve, 30, a mother of three, have roughly five years to live once they have been diagnosed with the lung condition, known as pulmonary fibrosis.
PHOTO: AP
The US Caribbean territory has the world's highest incidence of this often fatal type of albinism, which was likely brought by a colonizer centuries ago and proliferated as the isolated population intermarried.
Today it is the focus of an experimental drug study at the US National Institutes of Health. Researchers aim to minimize lung scarring from the disease that smothers air sacs and prevents oxygen from entering the bloodstream.
Nieve still remembers the day several years ago -- before her diagnosis -- when she suddenly passed out, gasping for air.
"I almost died," she said. "It was scary. I couldn't talk, but I remember thinking, `Dear God, let me stay. My daughters need me.'"
Various genetic disorders can lead to albinism, defined by a lack of pigmentation in eyes, skin and hair.
But Type 1 of the so-called Hermansky-Pudlak Syndrome is particularly deadly, said Thomas Markello, who works at the medical genetics branch of the National Institutes of Health. The syndrome, which is rare worldwide, is the leading cause of albinism in Puerto Rico, he said.
An estimated 300 to 500 albinos with the fatal strain live in Puerto Rico's northwest region, the island's largest concentration. NIH estimates that one in every 400 to 2,000 people worldwide carries the gene for the syndrome, compared with one in every 20 Puerto Ricans living in the northwest.
"All patients will need a lung transplant to stay alive unless we succeed in fixing the problem," Markello said.
Nieve flew to an NIH clinic in Bethesda, Maryland, several times last year for the drug study, which is aimed at people in the earliest stages of the disease. She still has a couple of visits left.
Her mother and father are albinos, and her father suffers from Hermansky-Pudlak. Two of his cousins died from it. Nieve's husband is not albino, nor are her daughters, though all three carry the gene -- and the potential for continuing the syndrome.
If both parents are carriers of the syndrome, children have a 25 percent chance of developing it, said Enid Rivera, the director of epidemiology in Puerto Rico's Health Department.
Most sufferers develop lung problems in their 30s and 40s, but patients as young as 25 and old as 65 have died from the disease, Markello said.
Like Nieve, several dozen Puerto Ricans are taking the experimental drug, pirfenidone, which already has been the subject of 12 US trials involving other ailments, including the scarring of kidneys spurred by diabetes.
Lung function among albino sufferers improved slightly in a previous pirfenidone study.
Researchers say they need at least 40 patients for the current one, and they have enrolled about 26 so far.
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