By Liana Jacob
THIS BRAVE little girl is delighted when she gets compared to Frozen’s Elsa but the rare form of albinism responsible for this means she will eventually need a lung transplant.
Human resources generalist, Aura Nelson (26), from Arizona, USA, became concerned when her daughter, Zerina (4), seemed unable to control her eye movements just three-months after she was born.
Her fear was brushed off by her paediatrician, who thought she was too young at that stage to control the movements of her eyes. Adamant to find an answer, Aura took her daughter to another doctor who referred her to the children’s hospital for DNA testing.
It was then confirmed that Zerina had a rare condition called Hermansky-Pudlak syndrome (HPS), a rare, hereditary disorder that involves two characteristics; decreased pigmentation (albinism) with visual impairment, and blood platelet dysfunction with prolonged bleeding.
Her condition means that Zerina bruises easily and Aura needs to constantly apply sun cream on her due to her sensitive skin.
The doctor warned Aura that there is a possibility Zerina could develop lung fibrosis, which means that she may need a lung transplant in the future.
The condition is considered to affect around one in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans; with a prevalence of one in 1,800.
“I was very concerned when she was about three-months-old because she seemed unable to control her eyes,” Aura 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 paediatrician said that she was just too young to control her eye movements, but that diagnosis didn’t feel right to me.
“We took her to another doctor who referred us to the children’s hospital for DNA testing. After finally having a confirmed diagnosis via a DNA test I felt a little bit helpless at first.
“I didn’t fully comprehend the situation. It was frustrating and scary. I think doctors forget how much of what they say sticks with people and impacts people’s lives and they end up giving it to you with no cushion or sugar.
“When they described the negatives associated with HPS, (such as the eventual need for a lung transplant, difficulties bleeding, etc.), a lack of pigment and the vision problems seemed a lot less important.
“Eventually she will very likely develop a lung condition similar to pulmonary fibrosis, which is when the lungs start to develop a scar like tissue that makes it difficult to breathe.
“It is very common for people with HPS to undergo lung transplants as it progresses and another unfortunate side effect of HPS is that it affects the way her body clots blood.
“She has a prescribed medication that she is supposed to take if she gets a cut that will help her clot blood. Hand in hand with that, Zerina bruises so easily.
“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.
“The bruising/clotting and the sensitivity to the sun are the two factors that affect us on a daily basis. Not only do we have to make sure to put sunscreen on her all the time, but we also have to be aware of how bright it is outside.”
Despite her struggles with day-to-day life living with her condition, with the help of Aura, 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,” Aura 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.
“She really enjoyed Elsa and Frozen and she always pointed out that her hair looks just like Elsa’s. I don’t think Zerina notices that she’s any different from the other kids in any other way yet.
“I hear a lot of little kids who compare her hair to Elsa (which is really cool). I think Zerina is very fortunate because her nystagmus (involuntary eye movement) is very mild.
“I think that Albinism is so beautiful, but I was really struggling to come to terms with the other half of the picture at first.”
Since Aura came to terms with Zerina’s condition, she decided to raise awareness by posting pictures of her daughter on social media.
“I started reaching out via social media to other mums with kids with Albinism. It was actually really great. I never knew anything about Albinism before we got her diagnosis. Most people don’t,” she said.
“They hear the term Albino – but they don’t really know or understand the extent of what it is. I just think it’s so important to make your kid feel loved and beautiful that I will continue to share her pictures with #AlbinismIsBeautiful #InMySkinIWin #InMyOwnSkin etc.
“I think seeing how smart she is and seeing how well she can function without glasses gives me hope that she will be able to live a somewhat normal life without too many restrictions.
“I was worried for a long time that she wouldn’t be able to drive because her doctor has referred to her as being potentially legally blind which might disqualify her from being able to drive in the future.
“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.
“Everyone we meet points out her unique hair and they always say, ‘people pay so much money to have hair that looks like that’ and that she’s lucky.
“Usually we just laugh and say yes we know. Zerina has always loved the attention. It’s been so great to hear from other mums on social media who are searching for other people who are in their situation.”