Anthony was diagnosed with Leber’s Congenital Amaurosis (LCA) at 3 ½ months of age. Leber’s Congenital Amaurosis (LCA) is a very rare, genetic hereditary disorder that causes severe vision loss and blindness in infants and children. Like most parents would be, we were devastated when we received the diagnosis. However, with strong support from family and friends, we redirected the initial feelings of devastation towards the positive. We were determined to tackle the disease “head on” and provide Anthony with all the tools he would need to succeed.
There are approximately 19 known genes that have been identified to cause LCA. In June 2013 we were fortunate to have Anthony's mutated gene identified. Anthony suffers from a mutation in the CRX gene which is the rarest of the 19 known genes. CRX mutation only comprises 1%-3% of the 3,000 cases of LCA in the US. There is no known cure for LCA. However, medical science has made great strides in recent years utilizing gene therapy. Clinical trials have been successful in restoring some vision in some clinical trial patients. This is a very critical and exciting time with research, in regards to LCA. Sooner rather than later, there may be a cure. With events like ours, helping to provide funding for trials and research, a cure may come sooner than we think! For information go to Foundation Fighting Blindness at fightingblindness.org
Anthony 2014 Boston
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