Nico was born June 15, 2023, happy and healthy, but within 2 short months, life as they knew it shifted. Nico was born with a rare genetic disorder called Hermansky-Pudlak Syndrome (HPS), he was 1 in 1,000,000, but not the lottery anyone wants to win. How does a family move forward? How does a family return to joy after such a difficult diagnosis? This is Nico's story, his parents' story, and a family's story of finding hope again after their HPS diagnosis.
What is HPS?
Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder, characterized by albinism, visual impairment, and a platelet dysfunction that results in prolonged bleeding.
Some people with HPS may develop other complications depending on the HPS gene involved; these include, inflammatory bowel disease, pulmonary fibrosis, and kidney disease.
Hermansky-Pudlak Syndrome (HPS) is a rare genetic condition that impacts 1 in 1,000,000 people worldwide. Currently, there are 11 known types of HPS. The future might also reveal other unidentified HPS gene types. HPS can range from mild with few symptoms to very severe and disabling.
In HPS types 1, 2, and 4 pulmonary fibrosis is a common problem. Pulmonary fibrosis is a scarring of the lungs that prevents them from being able to expand and contract during inhalation and exhalation. It is a restrictive lung disease. In HPS, the typical age of onset of symptoms occurs in a person’s mid-30s (although some cases occur in individuals in their early 20s). Without treatment death typically occurs between age 45 and 55. Treatments are being investigated at the National Institutes of Health. Lung transplantation is an option for some.
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