Doctors say that girls, four, with rare forms of albinism will eventually need life-saving lung transplantation
Zerina Nelson loves to be compared to the Disney princess Elsa because she has the same white-blond hair and pale skin.
But the four-year-old from Mesa, Arizona, actually suffers from a rare form of albinism that destroys her lungs.
Her mother, Aura Nelson, realized that something was wrong with her daughter when she could not control her eye movements at three months of age.
After going through several doctors, one of whom eventually ordered a DNA test, Zerina was diagnosed with a rare hereditary condition called Hermansky-Pudlak syndrome.
Doctors told Nelson that the condition will cause Zerina to get a lung disease that will leave her organ tissue scar tissue and which will need her life-saving lung transplant by the time she is 30 years old.
Zerina Nelson, four (left and right), of Mesa, Arizona, was diagnosed with a rare inherited condition called Hermansky-Pudlak syndrome. It is characterized by little to no color in the skin, hair and eyes, as well as platelet disorders, which cause excessive bleeding
Her mother, Aura, realized that something was wrong with her daughter when she could not control her eye movements at three months of age. Pictured: Zerina as a newborn in 2014
Nelson, 26, said it took a few months before she could find a doctor who could take away her worries.
& # 39; I was very worried when she was about three months old because she did not seem able to control her eyes, & # 39; said Nelson, 26.
"They seemed to move constantly and she did not seem to follow the objects properly, which made me worry that she might be blind.
& # 39; Her first pediatrician said she was just too young to keep her eye movements under control, but that diagnosis did not feel right for me. & # 39;
A second pediatrician referred Nelson to a children's hospital for genetic testing. Within a couple of weeksThe Hermansky Pudlak syndrome (HPS) was diagnosed at Zerina.
HPS is a rare inherited condition characterized by albinism and platelet dysfunction, which causes excessive bleeding.
Signs include pale hair, eyes and skin; poor eyesight with visual acuity of 20/200, which is considered legally blind; and long-term bleeding after accidents.
Zerina bruises very quickly and Nelson must continuously apply sunscreen to the very sensitive skin of her daughter.
Zerina bruises very quickly and has to take medication that will clot her blood if she gets a scrap. Nelson also has to apply a constant sunscreen to her daughter because of her sensitive skin. Pictured: Zerina, left, with Nelson in summer 2018
Doctors told Nelson that Zerina (left and right) has a form of HPS that causes them to develop lung disease called pulmonary fibrosis, meaning lung tissue is damaged and scarred. Without a lung transplant, patients would die in their thirties
A mild sunburn can cause serious skin damage, so Nelson should even check how hot it is outside.
When Zerina accidentally gets a cut or a scrape, she takes a prescription to help her blood clot.
Even a slight injury can cause her to bleed to death because she has no clot in her blood.
At first this scared me and I often floated over her, but I tried to step back, so she can have a somewhat normal childhood, & # 39; said Nelson.
The National Organization for Rare Disorders (NORD) says that HPS causes a mutation in one of the 10 genes.
For a child diagnosed with HPS, both parents must carry a copy of the mutated gene.
According to the National Institutes of Health, the syndrome affects about one in 500,000 people worldwide, with a significantly higher incidence in Puerto Ricans.
Patients with certain forms of HPS, such as Zerina, develop a lung disease called pulmonary fibrosis, in which lung tissue is damaged and scarred.
Without a lung transplant, according to NORD, patients could die in the thirty, forty or fifty.
& # 39; When they described the negatives related to HPS – such as the ultimate need for a lung transplant, problems with bleeding – a lack of pigment and vision problems seemed much less important, Nelson said.
Despite her struggles with everyday life, Zerina has embraced her gaze and is often compared to the Disney princess Elsa of the film Frozen by her friends and peers.
"Zerina has noticed that her hair is different from others, especially because we can not go anywhere without someone calling her hair, & # 39; said Nelson.
& # 39; She enjoys the compliments and is a very social child. I think it really helped to have a Disney princess that she can find. & # 39;
Nelson said she has started sharing her daughter's photo on social media to raise awareness of the rare disease. Pictured: Zerina with her father on the first day of nursery in January 2018
Nelson uploads images with hashtags, including #AlbinismIsBeautiful, #InMySkinIWin and #InMyOwnSkin. Pictured: Zerina, left, with Nelson in 2018
Zerina loves to be compared to the Disney princess Elsa from the movie Frozen because they have the same white blonde hair and blue eyes
Nelson has started sharing photos of her daughter on social media to raise awareness of Zerina's rare condition.
She uploads images with hashtags, including #AlbinismIsBeautiful, #InMySkinIWin and #InMyOwnSkin.
& # 39; I started contacting other mothers with children with albinism through social media, & # 39; said Nelson.
& # 39; It was actually very good. I never knew anything about albinism before we got her diagnosis. Most people do not.
I think that the fact that I see her thrive and is a social butterfly has really helped me to continue with my immediate fears or worries about her albinism. & # 39;