Our daughter Sofia has Leber congenital amaurosis (LCA). This rare degenerative genetic condition causes the cones and rods in her retina to deteriorate and eventually they will stop working altogether. She will be in complete darkness.
When Sofia was two, we knew something was wrong. She was a happy and otherwise normal kid, except the more mobile she became, the more she would fall, walk into things, and trip. After a series of visits to doctors and countless tests, Sofia was clinically diagnosed with LCA. We were told the best we could hope for was that the disease would progress slowly, and if she was lucky she would retain some perception of light through the end of high school, maybe even into her twenties. Aside from checking her vision every few years to monitor progression, there wasn’t much else to do medically.
We were, however, given a glimmer of hope that perhaps someday, if she was ever genetically diagnosed, there might be a chance for treatment. So for over 7 years, we underwent genetic testing in the hopes of determining which of her genes was defective.
In the summer of 2012, at an LCA family conference , we were told, “Everything has changed. Progress is being made and you will all be able to see in your lifetime.” Thanks to Dr. Eric Pierce and his team Massachusetts Eye and Ear Institute, Sofia finally received a genetic diagnosis: IQCB1/NPHP5. This is one of an estimated 20 genes associated with LCA that have been identified. With this diagnosis, and with successes in clinical trials of gene replacement for one LCA gene, RPE65, we now have hope that Sofia won’t necessarily lose all of her sight. In fact, she may even gain sight she never had.
In 2013, working with a few other families, we set ourselves the task of raising funds to develop a cure for blindness caused by Sofia’s gene. Thanks to the generosity of our family, friends and people across the globe we have never even met, we raised over $47,000 in six months. That enabled us to support two labs working on cures for our gene.
Although we raised enough to kick off the first year of research for Sofia’s gene, we knew we couldn’t stop there. In January of 2014, we established a 501(c)3 organization to fund the development of cures not just for Sofia’s gene, but also to support diagnosis, treatment and cures for all children and adults suffering from blindness caused by any of the up to 20 genes related to LCA. This work also helps those suffering from other rare inherited retinal diseases, including, but not limited to, achromatopsia, choroideremia, Usher syndrome, X-linked retinitis pigmentosa and X-linked retinoschisis (also known as juvenile retinoschisis). (Visit our Resources page for more information, to learn about ongoing clinical trials, and to join our newsletter to connect with other families.)
We believe that all boats float in a high tide, and as we drive general awareness and provide education and support to families and the medical community we can make a real difference in the lives of our children.
In short, Sofia Sees Hope aims to make vision a reality for not only Sofia, but for other children, adults and families that are impacted by blindness caused by LCA and other rare inherited retinal diseases.
— Laura Manfre & Charles Priebe