On September 14th, 2005, my husband and I welcomed our first child, Isabella into the world. I was relieved to see that she was healthy and had all ten fingers and toes. We took our daughter home and began the next chapter in our lives, parenthood.
Life was running smoothly and at about 18 months we decided to sign up for a Mommy and Me class. There were about 15 other toddlers running around the room playing on various slides and equipment. Bella, as we have always called her, has to transition from a carpet to a mat. We thought it was a little odd that she got down and crawled from one surface to the other. At her next pediatrician appointment, I mentioned this to the doctor but she just shrugged it off as a developmental process.
Bella then entered nursery school at the age of three. Her teacher noticed that Bella often struggled with basic concepts such as color recognition, number/letter identification, as well as some fine motor skills such as cutting. She suggested that Bella be examined to see if she qualified for special education services. Ironically, I am a Special Education teacher and felt in my heart the Bella was not learning disabled, but also was realizing that something was not right.
At Easter time, my friend came over with her son who was the same age as Bella. We hid Easter eggs and had a hunt. While her son was running around grabbing Easter eggs, Bella was walking around slowly and could not find any eggs. It was at this point that I realized that something was definitely wrong and my husband and I decided to bring her for an eye exam.
Two minutes into the eye exam the ophthalmologist told me, during the appointment, to start calling my family to find out the history of any eye diseases. He continued to examine Bella and then told me that there was something seriously wrong with Bella's retina, and while he had a hunch, could not specify the disease without a specialist examining her. We then saw a variety of ophthalmologists throughout the city and they inferred that Bella most likely had LCA: Leber's Congenital Amarousis. There are 12 different genes that are affected by LCA and each gene mutation causes different symptoms with a different outcome. At this point they could not tell us Bella's specific mutation. However, they told us that they were truly sorry but Bella would most likely lose her vision and be blind by the time she was a teenager. There was nothing that could be done. We left the city devastated with a sense of hopelessness.
Determined to help Bella, we decided to fly out to the University of Iowa to see a specialist on this disease. Bella went through 8 hours of examination with several doctors and we all submitted blood samples to determine if she did have LCA. Our sweet angel did not tantrum once and was a real trooper the whole day. At the end the doctor explained 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. This would make learning difficult for her as well as her ability to navigate her surroundings safely.
In May, the doctors called to tell us that Bella definitely had LCA and her specific gene mutation was RDH12. It turns out that Mike and I were both carriers of LCA and we had a 25% chance of passing this on to every child we had. Luckily for us, we had already given birth to twins Ava and Anthony who did not have the disease.
Mike and I could not fathom the idea of our daughter losing her vision. We started to research different scientists who were pursuing a cure for LCA. We went to a conference in Philadelphia on the disease and were lucky enough to find two other families who had the same gene mutation as Bella. Together we formed the RDH12 Fund for Sight and started to raise money to support scientists who were working on gene therapies for her disease.
At the same time, Bella was classified as visually impaired and started to receive services in school. She has a vision teacher who started to teach her Braille as well as different strategies to help her learn and keep up with her peers. She also was given an Orientation and Mobility teacher who helps her go up and down staircases, locate curbs, use the equipment on the playground safely and will eventually teach her to use a cane.
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. She knows her eyes are "special" and as she grows is starting to put together what that means. To say that we are scared for her is an understatement, and 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.
On behalf of our family, we would like to thank the New Hyde Park Gladiator Fund and the town of New Hyde Park for sponsoring our daughter Isabella this year. With the support of family and friends, as well as our communities, we are determined to help scientists find a cure for our daughter and other children who are suffering from RDH12. We truly appreciate all you have done for our daughter Bella.