Albinism with Hermansky-Pudlak syndrome Zerina Nelson, four, of Mesa, Arizona, was diagnosed with Hermansky-Pudlak syndrome (HPS) as an infant HPS is a rare hereditary disorder characterized by albinism, poor vision and blood that won't clot. Her mother, Aura, needs to constantly apply sunscreen and give Zerina a prescription medication if she gets a scrape to clot her blood. Zerina has a form of the condition that will cause her to develop pulmonary fibrosis, a lung disease that scars organ tissue Without a lung transplant, doctors say Zerina could die before she reaches her thirties zerina Nelson loves being compared to the Disney princess Elsa because they have the same white-blonde hair and pale skin. But the four-year-old from Mesa, Arizona, is actually suffering from a rare form of albinism that is destroying her lungs. Her mother, Aura Nelson, realized something was wrong with her daughter when she couldn't control her eye movements at three months old. After going through multiple doctors, one of whom eventually ordered a DNA test, Zerina was diagnosed with a rare hereditary disorder called Hermansky-Pudlak syndrome. Doctors told Nelson that the condition will cause Zerina to develop a lung disease that will scar her organ tissue and leave her in need of a life-saving lung transplant by the time she's 30 years old. Nelson, 26, said it took a few months before she could find a doctor that would address her worries. 'I was very concerned when she was about three months old because she seemed unable to control her eyes,' Nelson, 26, said. 'They seemed to constantly be moving and she didn't seem to follow objects well, which made me concerned that she may be blind. 'Her first pediatrician said that she was just too young to control her eye movements, but that diagnosis didn't feel right to me.' A second pediatrician referred Nelson to a children's hospital for genetic testing. Within a few weeks, Zerina was diagnosed with Hermansky-Pudlak syndrome (HPS). HPS is a rare hereditary disorder that is characterized by albinism as well as blood platelet dysfunction, which causes excessive bleeding. Signs include pale hair, eyes and skin; poor eyesight with vision acuity of 20/200, which is considered legally blind; and prolonged bleeding after accidents. Zerina bruises very easily and Nelson needs to constantly apply sunscreen to her daughter's highly sensitive skin. A mild sunburn could cause serious damage to the skin, so Nelson they even need to check how bright it is outside. If Zerina accidentally gets a cut or a scrape, she takes a prescription to help her blood clot. Even a minor injury could cause her to bleed out because she doesn't have a clotting agent in her blood. 'At first this used to scare me, and I used to hover over her a lot, but I've tried to step back so that she's able to have a somewhat normal childhood,' Nelson said. The National Organization for Rare Disorders (NORD) says HPS is caused a mutation in one of 10 genes. For a child to be diagnosed with HPS, both parents need to be carrying one copy of the mutated gene. According to the National Institutes of Health, the syndrome affects around one in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans. Patients with certain forms of HPS, like Zerina, develop a lung disease called pulmonary fibrosis, which is when lung tissue becomes damaged and scarred. Without a lung transplant, sufferers could die in their thirties, forties or fifties, according to NORD. 'When they described the negatives associated with HPS - such as the eventual need for a lung transplant, difficulties bleeding - a lack of pigment and the vision problems seemed a lot less important,' said Nelson. Despite her struggles with day-to-day life, Zerina has embraced her look and has been frequently compared to the Disney princess Elsa from the film Frozen by her friends and peers. 'Zerina has noticed that her hair is different from other people's, mostly because we can't go anywhere without someone mentioning her hair,' Nelson said. 'She enjoys the compliments and is a very social kid. I think it has really helped to have a Disney princess that she can relate to.' Nelson has begun sharing pictures of her daughter on social media to raise awareness of Zerina's rare condition. She uploads pictures with hashtags including #AlbinismIsBeautiful, #InMySkinIWin and #InMyOwnSkin. 'I started reaching out via social media to other moms with kids with albinism,' Nelson said. 'It was actually really great. I never knew anything about albinism before we got her diagnosis. Most people don't. 'I think that seeing her thrive and be a social butterfly has really helped me move on from my immediate fears or anxiety about her having albinism.' Source
