Seven year old Nicole Hall is small for her age. Even her five year old sister stands taller than her. Ask her what she wants to be when she grows up, though, and she’ll show you size is no obstacle for her ambition.
“A scientist… a paleontologist,” she answered one day, earlier this month. “She waffles between a paleontologist and something with space, maybe an astrophysicist,” said her mother, Stephanie Hall.
Every day, though, can be a challenge for Nicole, who was born with cystinosis, a disease so rare only about 500 Americans suffer from it, most of them children. When Nicole was just four months old, her doctor began to worry over how tiny she was. By the time she was nine months old, she was struggling. So were her parents.
“It was horrible, it was horrible,” recalls her mother. “As a parent, it’s scary because she was vomiting every day, multiple times a day, for 18 months.”
Nicole was almost two years old, when a doctor finally diagnosed her. “This disease still throws so many wrenches at you,” said Hall. With no cure for the condition, Dr. Albert Quan, at Medical City Children’s Hospital, helps Nicole and her family manage the symptoms.
“She cannot metabolize certain amino acids… and they accumulate inside the cells of her body. It affects a wide variety of organs– the eyes, the kidneys.” he explains.
Nicole now gets all her nutrition from a feeding tube. She’s so sensitive to light, she often wears sunglasses, even indoors. Soon, she’ll likely need a kidney transplant.
“I really do hope that my child will wake up one day and not be in pain,” said Hall.
With no government funding to study such a rare disease, Nicole’s parents have become advocates, sharing her story to increase awareness and promote privately funded research. Their biggest hope is to see her grow up, go to college and get the chance to be everything she dreams of being. To read more about Nicole’s story or to make a donation in her name, visit the Cystinosis Research Foundation website.
Reposted from CBS News. Written by Andrea Lucia.