A report by INGRID ADAMOW published in The Hartford Courant.
At birth, Yeida Soto says, she was “slapped with a label” — albinism.
Growing up, she experienced issues with bleeding, but doctors never connected them to her skin disorder, she said, because “doctors didn’t know much about albinism to begin with, and besides, who would?”
It wasn’t until she was researching information about albinos’ impaired eyesight that Soto, 34, found information about Hermansky-Pudlak Syndrome, a rare genetic disease whose most common symptoms are albinism, bleeding disorders, gastrointestinal difficulties and sometimes fatal pulmonary fibrosis.
“When I read it, I’m like, this is me to a T,” Soto said.
Soto, who lives in New Britain, said her doctor initially dismissed her suspicions, but she perservered, and seven years ago at age 27, Soto was diagnosed with HPS.
“I had to be my own advocate because so little was known about it,” she said.
The syndrome — which occurs in one in 500,000 to one in 1 million people worldwide — is the subject of a documentary film that will be shown Saturday in Bridgeport.
Soto said knowledge about HPS is still “in its infancy.” Patients are sometimes diagnosed with albinism and other unrelated illnesses, or, because they don’t fit a certain image of what a person with albinism might look like, they go under the radar entirely.
“People think of white hair, red eyes — the way an animal with albinism would look,” she said. “But we have dark-skinned, black-haired people.”
The disease is most prevalent in people of Puerto Rican descent, and one in every 1,800 Puerto Rico natives carries the HPS gene. Both Soto’s parents are from Puerto Rico.
Heather Kirkwood, vice president of the nonprofit Hermansky-Pudlak Syndrome Network, said, “Even in areas where there’s a big Puerto Rican community, you’d think they’d have known about it, but they don’t.”
As of 2010, Connecticut had the highest percentage of Puerto Rican-American residents of any state, at 7.1 percent, and the city of Hartford has a thriving Hispanic population — about 45 percent — many of whom are Puerto Rican-American.
Soto, who is actively involved in the HPS Network, said that “four or five” people from Connecticut with HPS are currently connected through the organization. Because of underdiagnosis and misdiagnosis, she said, other people in the state probably have the disease.
Kirkwood, an HPS patient whose great-grandfather was Puerto Rican, said that based on the network’s research there “definitely” are people in Connecticut who “don’t know they have it.”
The network will screen “Rare,” a documentary about three HPS patients, including Kirkwood, and their experiences in a drug trial to treat some of their symptoms, Saturday at 6 p.m. at Bridgeport’s Discovery Science Museum.
The HPS Network advocates testing to identify people who are undiagnosed or misdiagnosed and uses the Internet and social media to unite and inform those who are already aware of their disease.
“We’re unique because we’re so rare,” Soto said. “We’re sprinkled all over the world. It’s nice to be able to keep in touch over the Internet.”
The network also presents yearly conferences in New York and Puerto Rico, where doctors who have studied the disease present the latest research and answer questions.
The network’s members face the challenges and successes of navigating the uncharted territories of a rare disease together.
“For a number of us, it can be deadly. Unfortunately, we’ve lost several people and that’s hard,” Soto said. But, there are also the stories of successful lung transplants, which, she added, “gives you hope for your situation.”
“Rare” will be shown Saturday at 6 p.m. at the Discovery Science Museum, 4450 Park Ave., Bridgeport. For information about the screening, call 203-522-3599. For information about the Hermansky-Pudlak Syndrome Network and HPS, go to hpsnetwork.org or call 800-789-9HPS.
For the original report go to http://www.courant.com/health/connecticut/hc-hps-disease-20120808,0,2883728.story