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