Maria Fiore is a special education teacher in the Great Neck school district and lives in Syosset with her husband, Michael and their three children, Isabella, age 6 and twins, Anthony and Ava, age 4.
When Bella was about 18 months old, Maria took her to a “mommy and me” class at a local Gymboree and noticed that while the other children ran around the room, Bella navigated the play area by crawling over the different surfaces.
When Bella attended nursery school, she seemed to have difficulty with concepts like color recognition and letter/number identification and had difficulty navigating stairs and ramps. As a special education teacher, Maria knew her daughter wasn’t learning disabled, but sensed something was not quite right.
It wasn’t until Maria and her friend had an Easter egg hunt with their children that she was certain Bella had a problem. The other child found all the eggs while Bella found none. “Alarms starting going off,” Maria says, “I knew something was definitely wrong.” She took Bella, who was then 4, to an ophthalmologist. He took one look into Bella’s eyes and immediately said there was something seriously wrong with her retinas. “He handed me his cell phone and said, ‘Start calling your family to see who has eye diseases.’ ”
After Bella was examined by several doctors, her parents took her to the University of Iowa, where she was diagnosed with Leber Congenital Amaurosis (LCA), a rare genetic disorder that results in the progressive loss of vision. Those with LCA eventually go blind, typically when they’re in their late teens to early twenties. The condition is extremely uncommon, and Bella had an even rarer form of it, RDH12-Related LCA.
RDH12 is a protein in the eye that recycles molecules that are important to the eye’s ability to detect light. Without it, the cells of the retina die. Bella’s doctor tested to see if Bella’s retinal rods captured any light.
“She flat-lined,” Maria says of the test results. The Fiores were told that Bella lacked peripheral vision, was completely blind in dim to dark light, was sensitive to bright light, had difficulty with color contrasting, and lacked depth perception.
Only 1,800 people in the entire world and less than 100 in the United States, have RDH12-LCA. Classified as an orphan disease, it has received almost no attention by the research community.
“We were told there’s nothing they could do. There was no hope,” Maria says. “We were freaking out.”
Instead of giving up, Maria and Mike began searching for information about LCA. There wasn’t much available, but they learned about a conference in Philadelphia that was being hosted by a retinal foundation in July 2010. The Fiores attended along with about 200 other people all on a mission to find other families with RDH. One mother, desperate for answers, Maria says, grew impatient and stood up and asked if there were any other families with an RDH12 diagnoses.
The Fiores and three other families raised their hands. “There were four of us in the whole world,” Maria says. The three families from the U.S. and one from Belgium immediately formed the RDH12 Fund for Sight to raise awareness and funds for research. Maria says since they started the fund, the number of families has grown to nine worldwide.
Even with her experience as a special education teacher, Maria still struggles with her daughter’s diagnosis and the rarity of her disease. “In 12 years I’ve [taught] one blind child,” she says. “While I was teaching, I was thinking about Bella and I was trying to hold it together.
“Bella knows her eyes are special, and that she sees differently, but the hardest part is not knowing if she’s going blind,” her mother adds.
Bella has been classified as visually impaired and is learning Braille. Her Orientation and Mobility teacher shows her how to navigate stairs and use playground equipment safely and will continue to educate her about the skills and concepts she’ll need in order to travel independently and safely in her home, classroom and in the community
The Fiores don’t want to overload their young daughter with too much at such a young age and haven’t determined when Bella will learn how to use a cane. “These are decisions we have to make,” Maria says.
In school Bella was struggling to read because she needed more light, so she now has a lamp at her desk. When she goes outside, she always wears dark sunglasses to reduce her exposure to sunlight since it’s been suggested sunlight produces toxins that the eyes cannot remove without RDH12.
“Bella has no depth, no peripheral vision and is blind in dim light. She can’t see anything above or below her head,” Maria says.
The Fiores focus is on raising funds for research. They found a scientist, Dr. Jean Bennett from the University of Pennsylvania, who is conducting research on RDH12 and in March, the fund presented her with a check for $70,000 to start pre-clinical proof on a gene therapy cure. They need to raise another $250,000 for the next phase, so the families are busy planning a variety of fundraisers.
“Every family does it differently in the group,” Maria explains. “We host a golf outing and a dinner dance.”
Maria is grateful that Bella has her vision for now. Bella is encouraged to be like any other first grader, and is given the opportunity to explore, discover and learn about herself and the world around her.
“When we look at our daughter we see a beautiful child, who no matter what, will be prepared to face the world independently. She plays soccer, is an avid swimmer, and is a Daisy Scout. She loves Lady Gaga and dancing, has her first crush, and luckily has a great sense of humor.
“To say that we are scared for her is an understatement,” Maria says. “We will do all we can to save her vision. But in the end, we are also determined for her to live a full and wonderful life.”