Rare Genetic Disease That Mostly Affects Puerto Ricans

hermansky-pudlak-syndrome-puertorican
Photo credit: Living on the frontlines

Did you know that there is a rare genetic disease that is most prevalent in people of Puerto Rican descent? That rare genetic disease is Hermansky-Pudlak Syndrome, and it is said that 1 in every 1,800 Puerto Rico natives carries the HPS gene.

Little is known about Hermansky-Pudlak Syndrome (HPS) but its most common symptoms are albinism, legal blindness/visual problems, bleeding disorders, gastrointestinal/digestive difficulties and sometimes fatal pulmonary fibrosis (scarring of the lungs). The symptoms experienced depends on the type of gene mutation involved. This rare disease can shorten one’s lifespan due to the lung disease or bleeding issues. Some say that normal life expectancy is 4-10 years after diagnosed with pulmonary fibrosis.

Yeida Soto, who lives in New Britain but both of her parents are from Puerto Rico, self diagnosed herself when doing research online. At birth she was labeled with the condition of albinism. Growing up, she noted that she had other symptoms and when she brought up her suspicion of Hermansky-Pudlak Syndrome to her doctor, that idea was quickly dismissed. Eventually she was diagnosed with HPS, but it was not easy since little is known about the disease and patients are often diagnosed with other unrelated illnesses.

For instance, some people with HPS don’t fit the image of what a person with albinism would look like. Soto explains, “People think of white hair, red eyes — the way an animal with albinism would look… but we have dark skinned, black haired people.”

Diagnosis for HPS can be done with a simple non standard blood test.

There is a new documentary out, titled RARE, that follows 3 HPS patients and their experiences in a drug trial to treat some of their symptoms. It follows the Hermansky-Pudlak Syndrome Network (HPS Network) to try to treat the disorder’s deadly lung complication. The vice president of HPS Network, Heather Kirkwood, stated that “Even in areas where there’s a big Puerto Rican community, you’d think they’d have known about it, but they don’t.”

Here is the promo video for Rare:

RARE was produced by the Stanford Center for Bioethics (more info at www.rarefilm.org). The HPS Network is a non-profit organization that serves families affected by HPS, visit their website at www.hpsnetwork.org.

For more information about HPS, check out the video below (Part II talks about the disease, Part I is the touching background story of the patient which I will also add below):

Part II: Mystery Diagnosis (OWN) – Hermansky Pudlak Syndrome

Part I: Mystery Diagnosis (OWN) – Hermansky Pudlak Syndrome

100,000 Documentary – Dogs in Puerto Rico

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Directed by Juan Agustín Márquez, the Emmy award winning film 100,000 documents a growing problem on the beautiful island of Puerto Rico – stray dogs. These abandoned feral dogs, also known as “satos” in Puerto Rico, are often seen roaming the streets and beaches of Puerto Rico and are growing in number. The 100,000 documentary offers eye opening views of the problem, as well as the stories of volunteers making an effort to alleviate the issue without receiving much support from the government.

View the trailer for 100,000, information about the film, where you can view the film, and information about how YOU could help below…


www.100000movie.com

After the film aired in 2010, director Juan Márquez collaborated with Purina of Puerto Rico and created a 20 school film tour. Students watched the educational documentary about this growing problem and made a pledge to help abused animals. Check out footage of the film tour in Puerto Rico below!

‘100,000’ tours Puerto Rico’s schools. from Juan Agustin Marquez on Vimeo.

There are many ways we can stop the overpopulation and abuse of animals in Puerto Rico. “We have to keep promoting spaying and neutering in Puerto Rico. We have to break down the ‘machismo’ barrier that has blocked this concept in the minds of so many. Education is key at an early age.” says director Juan Marquez.

Take the pledge along with thousands of others:

To decrease the overpopulation problem and promote the proper care of dogs, I pledge to:

– Educate myself about dogs and think hard about it before having one.

– Adopt, instead of buying.

– Spay/neuter my dog.

– Integrate my dog to my family for his/her entire life.

– Vaccinate my dog and take him/her to the vet when he/she is sick.

– Register my dog with the microchip.

– Bathe my dog.

– Walk my dog on a leash every day.

– Play with my dog.

– Educate others about the proper care of dogs.

– Report dog abuse.

– Help stray dogs.

– Be the hero that my dog thinks I am.

Spread the word so everyone in Puerto Rico makes this commitment. Make a difference and be a hero!

For more on the documentary 100,000 and how to view the documentary visit www.100000movie.com

More ways to help our beautiful island from these great organizations:

  • Save A Sato – Takes in homeless animals, provides basic care including vaccination shots and spay/neuter services, rehoming services and more.
  • The Sato Project – Rescue, rehabilitate and adopt abandoned dogs. They have partnered with Pets Alive in NY and you can also volunteer to be an escort to take an animal with you from Puerto Rico to New York so they can have a chance to be adopted in the states.
  • Island Dog Inc – Dedicated to building animal friendly communities in Puerto Rico, Vieques and Culebra. Rescue, rehabilitate abused and adoptable animals.
  • Second Chance Animal Rescue – Rescue, rehabilitate, and locate forever homes for abandoned and neglected dogs. Provides each rescue with food, shelter, medical care and attention. Due to extreme suffering on the streets, many go on to live out their lives as a part of their sanctuary family and receive long term care.