{"page":"\u003clink rel=\"stylesheet\" href=\"https://lessonplanet.com/assets/packs/css/resources-c03aa079.css\" /\u003e\n\u003clink rel=\"stylesheet\" href=\"https://lessonplanet.com/assets/packs/css/lp_boclips_stylesheets-517835be.css\" media=\"all\" /\u003e\n\u003cdiv data-title='Rare form of albinism threatens lives in Puerto Rico' data-url='/boclips/videos/5c54bd87d8eafeecae134dac' data-video-url='/boclips/videos/5c54bd87d8eafeecae134dac' id='bo_player_modal'\u003e\n\u003cdiv class='boclips-resource-page modal-dialog panel-container'\u003e\n\u003cdiv class='react-notifications-root'\u003e\u003c/div\u003e\n\u003cdiv class='rp-header'\u003e\n\u003cdiv class='rp-type'\u003e\n\u003ci aria-hidden='true' class='fai fa-regular fa-circle-play'\u003e\u003c/i\u003e\nVideo\n\u003c/div\u003e\n\u003ch1 class='rp-title' id='video-title'\u003e\nRare form of albinism threatens lives in Puerto Rico\n\u003c/h1\u003e\n\u003cdiv class='rp-actions'\u003e\n\u003cdiv class='mr-1'\u003e\n\u003ca class=\"btn btn-success\" data-posthog-event=\"Signup: LP Signup Activity\" data-posthog-location=\"body_link_boclips\" data-remote=\"true\" href=\"/subscription/new\"\u003e\u003cspan\u003e\u003cspan\u003eGet Free Access\u003c/span\u003e\u003cspan class=\"\"\u003e for 10 Days\u003c/span\u003e\u003cspan\u003e!\u003c/span\u003e\u003c/span\u003e\u003c/a\u003e\n\u003c/div\u003e\n\u003c/div\u003e\n\u003c/div\u003e\n\u003cdiv class='rp-body'\u003e\n\u003cdiv class='rp-info'\u003e\n\u003cdiv aria-label='Hide resource details' class='rp-hide-info' role='button' tabindex='0'\u003e\u0026times;\u003c/div\u003e\n\u003ci aria-label='Expand resource details' class='rp-expand-info fai fa-solid fa-up-right-and-down-left-from-center' role='button' tabindex='0'\u003e\u003c/i\u003e\n\u003ci aria-label='Compress resource details' class='rp-compress-info fai fa-solid fa-down-left-and-up-right-to-center' role='button' tabindex='0'\u003e\u003c/i\u003e\n\u003cdiv class='rp-rating'\u003e\n\u003cspan class='resource-pool'\u003e\n\u003cspan class='pool-label'\u003ePublisher:\u003c/span\u003e\n\u003cspan class='pool-name'\u003e\n\u003cspan class='text'\u003e\u003ca data-publisher-id=\"30356011\" href=\"/search?publisher_ids%5B%5D=30356011\"\u003eCurated Video\u003c/a\u003e\u003c/span\u003e\n\u003c/span\u003e\n\u003c/span\u003e\n\u003c/div\u003e\n\u003cdiv class='rp-description'\u003e\n\u003cspan class='short-description'\u003eAguadilla - January 20081. Wide shot of a little albino girl on a tricycle in the sun2. Close shot of little girl, wearing sunglasses3. Medium shot two men look at a folder with materials about the HPS network.4. Close shot of folder's...\u003c/span\u003e\n\u003cspan class='full-description hide'\u003eAguadilla - January 2008\u003cbr/\u003e1. Wide shot of a little albino girl on a tricycle in the sun\u003cbr/\u003e2. Close shot of little girl, wearing sunglasses\u003cbr/\u003e3. Medium shot two men look at a folder with materials about the HPS network.\u003cbr/\u003e4. Close shot of folder's label, reading \"HPS Network, Puerto Rico\"\u003cbr/\u003e5. SOUNDBITE (Spanish) German Acevedo, HPS sufferer \u003cbr/\u003e\"My family always knew I was an albino and that I would have some health consequences different from those of other people. I don't remember from which state, but there were some doctors who came because they already were doing a study and had discovered that Puerto Rico had the largest number of albinos. That syndrome, you can find it in most of the island's albinos\"\u003cbr/\u003eSan Juan - January 2008 \u003cbr/\u003e6. Dr. Enid Rivera examines a young HPS patient, looking inside his mouth\u003cbr/\u003e7. SOUNDBITE (English) Dr. Enid Rivera, HPS researcher\u003cbr/\u003e \"We have such a high incidence because we are an island. the islands in the world that have closed population, enclosed or limited through geography do promote the higher incidence of genetic disorders. It happens in all the islands of the world, and all isolated populations. We have been an isolated island for approximately 400, 450 years.\"\u003cbr/\u003e8. Close up examining boy's ears\u003cbr/\u003eAguadilla - January 2008\u003cbr/\u003e9. Wide shot of Ivete Vazquez talking to Maritza Soto \u003cbr/\u003e10. SOUNDBITE (Spanish) Ivette Vazquez, mother of HPS sufferer. \u003cbr/\u003e\"In my family, it's the first time. That's the case here, where most of the albinos live. Most of them are in the north region that we know of. There's very few in the southern area. It's genetic. Apparently it's due to a gene. Many link it to a relative, maybe a cousin. But in my case, we didn't have anyone.\" \u003cbr/\u003e11. Albino man cycling \u003cbr/\u003eSan Juan - January 2008 \u003cbr/\u003e12. Medium shot Dr. Rivera examining Albino boy on examining table, she points out spots on his legs\u003cbr/\u003e13. Close shot of legs.\u003cbr/\u003e14. SOUNDBITE (English) Dr. Rivera\u003cbr/\u003e\"These patients major cause of death is pulmonary fibrosis. They develop this disorder in the lungs approximately the second or third decade of life. This is irreversible up to now, and this is very sad because we lose people when they are young,when they are productive. People with Hermansky-Pudlak love the same way everyone loves, they have families, they have children. And they don't deserve to die so young, and to suffer so much.\"\u003cbr/\u003eAguadilla - January 2008\u003cbr/\u003e15. Wide shot of Nieve (which means snow in Spanish) talking to albino friend\u003cbr/\u003e16. SOUNDBITE (Spanish) Mayra Nieve, HPS sufferer \u003cbr/\u003e\"The lungs, I get a lot more tired when I walk. My chest hurts a lot. I'm in the hospital a lot because of my lungs. I have been in the hospital a lot since I was 14 years old...I had an appendectomy, they removed cysts from my uterus, cysts from my ovaries. I was operated on 2 months ago. They removed 3 cysts from my uterus. They tell me I shouldn't be doing anything strenuous. You just keep on living your life.\"\u003cbr/\u003e17. Medium shot of old man and his wife, both Albinos \u003cbr/\u003e18. Wide of Albinos \u003cbr/\u003e19. Close shot of Acevedo looking at photos with pictures inches from his eyes\u003cbr/\u003e20. SOUNDBITE (Spanish), Acevedo\u003cbr/\u003e\"I'm Type 1, which is the most abundant and common albinism. It was very hard at first because they tell you that you have a sickness that has no cure. We don't know how long you're going to live, what kind of things you can do, what kind of things you cannot do, but I just keep receiving treatment. At first I was a little scared, but now I just keep living my normal life.\"\u003cbr/\u003e21. Wide shot of Acevedo and friends laughing\u003cbr/\u003eIn the Northwestern part of the Caribbean island of Puerto Rico, a potentially deadly disease is thriving.\u003cbr/\u003eHermansky-Pudlack Syndrome is a rare genetic condition that causes albinism - a lack of pigmentation in the skin, hair and eyes.\u003cbr/\u003eAlbinos with the syndrome- called \"HPS\"- also face an often fatal lung condition called pulmonary fibrosis - along with many other health problems.\u003cbr/\u003eThe isolation of the island's population has allowed the hereditary disease to proliferate - it has the highest concentration of victims of HPS in the world.\u003cbr/\u003eIn villages tucked among the mountains of this U.S. Caribbean territory, hundreds of Puerto Ricans are afflicted with a rare and often fatal form of albinism. \u003cbr/\u003eAlbinism is a condition characterised by a lack of pigmentation. \u003cbr/\u003ePuerto Rico has one of the world's highest rates of Type 1 Hermansky-Pudlak Syndrome, believed to have been brought by a coloniser centuries ago, which can cause a deadly lung disease. \u003cbr/\u003eIt was first reported in Puerto Rico in the 1970s, but it was only a decade ago that researchers discovered it leads to pulmonary fibrosis.\u003cbr/\u003eExperts at the National Institutes of Health, in Bethesda, Maryland in the United States, say that patients need a lung transplant to stay alive. \u003cbr/\u003eNo HPS patients living in Puerto Rico have received a lung transplant, mostly because the procedure costs around US$300,000 and not available on the island. \u003cbr/\u003eMany sufferers do not have insurance. For those 65 or younger, Medicaid is not an option, because it does not cover off-island treatment. \u003cbr/\u003eIn a bid to eliminate the need for lung transplants, NIH researchers are recruiting volunteers for a two-year trial in which they take an experimental drug, Pirfenidone, and have their lung function tested during several visits to the mainland. \u003cbr/\u003eResearchers aim to minimize lung scarring from the disease that smothers air sacs and prevents oxygen from entering the bloodstream.\u003cbr/\u003eAn estimated 300 to 500 albinos in Puerto Rico have Type 1 HPS. \u003cbr/\u003eThe rate of HPS is high in Puerto Rico because of the greater possibility of two HPS carriers meeting and having children on this small island. \u003cbr/\u003eMost Puerto Ricans with the syndrome live in mountain villages in the northwest.\u003cbr/\u003eAt least 26 patients have enrolled so far for the trial. \u003cbr/\u003eMany people with this rare form of albinism have refused to participate, with some believing that prayer alone will help them and others shying away from being used as \"guinea pigs.\"\u003cbr/\u003eThe researchers have asked HPS sufferers who have enrolled for the trial to enlist others. \u003cbr/\u003eGerman Acevedo, aged 30, lives in Aguadilla, a town with one of the highest number of albinos in Puerto Rico. \u003cbr/\u003eHe is one of the volunteers who is encouraging others with Type 1 HPS to join. \u003cbr/\u003eSeveral dozen Puerto Ricans are already taking the experimental drug, pirfenidone, which already has been the subject of 13 U.S. trials involving other diseases that lead to lung scarring, including diabetes. It has yet to be approved by the U.S. Food and Drug Administration.\u003cbr/\u003eGerman says that he always knew that he would one day face health problems as a result of his condition. \u003cbr/\u003eLung function among albino sufferers improved slightly in a previous pirfenidone study, and researchers say they need at least 40 patients to submit results for review this time. They have enrolled about 26 patients so far.\u003cbr/\u003e There's no cost to participating in the drug study, and the known side effects seem to be as mild as heartburn. \u003cbr/\u003eBut scores of afflicted Puerto Ricans have refused. \u003cbr/\u003eSome believe prayer alone will help, while others mistrust the idea of government research.\u003cbr/\u003eDoctor Enid Rivera is a specialist in HPS, based in the Puerto Rican capital San Juan, she says the drug Pirfenidone can help, but only if taken  before the lungs are too damaged. \u003cbr/\u003eIn her surgery she examines an 8-year-old albino boy called Carlos. He is the only one in his family with the disease.\u003cbr/\u003eNot all Hermansky-Pudlack patients have pigment problems - some are dark haired and dark skinned, but show many of the same health problems as light-skinned or Type 1 HPS albinos.\u003cbr/\u003eDr. Rivera says Puerto Rican doctors are in a unique position to do research on the syndrome, as their population has been isolated for hundreds of years, resulting in a limited gene pool and a higher incidence of genetic disorders. \u003cbr/\u003eShe has begun a programme screening new babies for HPS.\u003cbr/\u003eIvette Vazquez is an organiser for the HPS support group in Aguadilla. \u003cbr/\u003eShe has a son with HPS. She says it was the first known case in her family.\u003cbr/\u003eDr. Rivera works with patients to help them keep the worst symptoms at bay.\u003cbr/\u003eStaying out of the sun can prevent the skin problems and retina damage that albinos are susceptible to.\u003cbr/\u003eBut most important is keeping the lungs healthy.\u003cbr/\u003eDr. Rivera says that the main cause of death of albinos is pulmonary fibrosis.  \u003cbr/\u003eMost HPS sufferers develop lung problems in their 30s and 40s, but patients as young as 25 and old as 65 have died from the disease. \u003cbr/\u003ePatients usually succumb within five years of being diagnosed with pulmonary fibrosis. \u003cbr/\u003eNo one keeps records of how many Puerto Ricans have died from HPS. \u003cbr/\u003eNIH researchers suspect many deaths have been wrongly blamed on pneumonia, asthma and even lung cancer.\u003cbr/\u003eMayra Nieves, a mother of three, has the condition, both her parents also have Hermansky-Pudlak.\u003cbr/\u003eShe lives with a variety of symptoms.\u003cbr/\u003eBoth parents must be carriers for the gene to be passed to a child. \u003cbr/\u003eBecause of the limited population on the island, the are more chances for two carriers to meet and pass the gene on.\u003cbr/\u003eMayra and other volunteers are already taking the drug and being flown to Maryland for tests. \u003cbr/\u003eGerman says that he has Type 1 Albinism, which is the most common form of the condition. \u003cbr/\u003eThe Aguadilla support group gives companionship to people who can feel alienated in society because of their unusual appearance.\u003cbr/\u003eThe symptoms of HPS are wide ranging... they including severe gastro-intestinal problems and a tendency to bleed excessively.\u003cbr/\u003eMost Type 1 Hermansky-Pudlack sufferers are also legally blind - a classic symptom is eyes that swing back and forth horizontally, which makes focussing difficult.\u003cbr/\u003eGerman and Mayra both say that they just get on with living their life the best they can. \u003cbr/\u003eRough estimates show that one in every 400 to 2,000 people worldwide is a Type 1 HPS gene carrier, compared with one in every 20 Puerto Ricans living in the northwestern part of the island, or 1 in 60 for the entire island, according to the NIH.\u003cbr/\u003e\u003c/span\u003e\n\u003c/div\u003e\n\u003cdiv class='action-container flex justify-between'\u003e\n\u003cbutton aria-expanded='false' aria-label='Read more description' class='rp-full-description' type='button'\u003e\n\u003ci class='fai fa-solid fa-align-left'\u003e\u003c/i\u003e\n\u003cspan id='read_more'\u003eRead More\u003c/span\u003e\n\u003c/button\u003e\n\u003cdiv class='rp-report'\u003e\n\u003c/div\u003e\n\u003c/div\u003e\n\u003cdiv aria-labelledby='resource-details-heading' class='rp-info-section'\u003e\n\u003ch2 class='title' id='resource-details-heading'\u003eResource Details\u003c/h2\u003e\n\u003cdiv class='rp-resource-details clearfix'\u003e\n\u003cdiv 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