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.