Abigail’s story begins when she was 18 months old. I noticed that something was unusual about her vision. She did not look directly at me, but appeared to look past me. I expressed my concern to her pediatrician who then referred us to a pediatric ophthalmologist. He determined that her retina was not normal and recommended that she be seen by a retinal specialist. At this time, we began seeing a doctor at the Cole Eye Institute at the Cleveland Clinic in Cleveland, Ohio. Here, they performed an ERG, electroretinogram, which measures the electrical responses of various cell types in the retina. Abigail’s response was determined to be minimal. Her blood was sent to the Carver Lab in Iowa to confirm what the doctor had suspected – LCA, Leber’s Congenital Amaurosis.
This was a very difficult time for our family. We were heartbroken as we learned the devastating effects of this disease and because it is progressive, we have no way of knowing how long Abigail will retain what sight she now has.
In June 2007, when Abigail was almost three years old, I received a call from the Carver Lab which confirmed Abigail’s initial diagnosis of LCA with a RDH12 gene mutation. The doctor said research is progressing, but there had been no new research developments of this specific gene. We continually kept searching, reading, and learning information about LCA, realizing that the RDH12 gene mutation was very rare. In October 2010, I joined forces with other families who had formed the RDH12 Fund for Sight. This organization raises funds to support research and development of a cure for LCA caused by RDH12. Through this group’s efforts, the researcher, Dr. Debra Thompson, of the University of Michigan, has agreed to begin work on a gene therapy treatment.
But funding this research takes a lot of money. I could no longer just sit back and do nothing. I had to become involved because my child’s eyesight was at stake. So I joined the other families and began fundraising efforts. Our fundraising name is Abigail’s Angels. At first I didn’t know where to begin, but the problem was quickly resolved. When others learned of Abigail’s condition and what funds were needed for the research, they became a godsend. Her school held a PJ/movie day fundraiser; my friends organized a kids’ dance and a rock-a-thon; my husband’s work held a Jean day/raffle; my church family held two chicken grill dinners, a Chinese raffle, a Trash-to-Treasure sale, and a Gospel Sing for Sight concert. Local Bible Schools have also donated their collections to our fund as well as numerous donations from caring family and friends. I can’t thank everyone enough for all of their love and dedication to Abigail. They are truly “Abigail’s Angels”.
Abigail spends one hour per day learning braille. She has a CCTV at her desk which zooms in on anything that needs enlarged. Her eyes take longer than normal to adjust to changing light. She wears sunglasses outside to enable her eyes to adjust easier. Abigail has two older brothers, both of which do not have this gene mutation. She loves to sing, dance, swim, ride her bike, and go camping. She participates in tap, jazz, tumbling, and ballet and is a member of a Brownie troop. She also attends Sunday School and is a member of the children’s choir. She is a very happy little girl.
Every day that Abigail can see is another day of learning. We never know if one day she will wake up to a world of darkness. We pray that a cure will be available for Abigail and all who have this terrible disease.