Inspired by Sofia, a young teen who would like to see the stars at night, our vision is that someday everyone with an inherited retinal disease will be able to look up and see the stars.
Sofia Sees Hope is a patient advocacy organization dedicated to transforming the lives of those affected by blindness caused by Leber congenital amaurosis (LCA) and other rare inherited retinal diseases by generating awareness, supporting affected families, and raising funds to advance research for diagnosis, treatments, and cures.
YOUR GENEROUS GIFTS TO SOFIA SEES HOPE MAKE IT POSSIBLE FOR US TO:
Increase public awareness and understanding of inherited retinal diseases and hope for cures
Increase awareness and resources within the medical community
Support genetic testing and related medical expenses
WE’RE A SMALL TEAM WITH BIG HOPES AND PLANS TO MAKE A DIFFERENCE IN THE LIVES OF THOSE AFFECTED BY BLINDNESS CAUSED BY AN INHERITED RETINAL DISEASE.
Cloud Technology Partners
First Vice President, Investment Officer
Wells Fargo Advisors LLC
Jupiter Point Pharma Consulting, LLC
Groton Eye Center
Portfolio Development at Eagle Investment Systems
Former Construction Executive
University of Pennsylvania
Chief of Staff at Mohegan Sun
Former Television News Anchor and Reporter
Principal at Data Presentation Strategies, LLC
Senior Associate and Partner at Cultural Practice, LLC
Senior Genetic Counselor
Ocular Genomics Institute, Massachusetts Eye and Ear Institute
Owner of Simply Majestic
President and CEO of Make-A-Wish Foundation® of America
Sofia, the inspiration behind Sofia Sees Hope, has Leber’s 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 confirming her gene defect.
In the summer of 2012, at the LCA conference hosted by the Foundation for Retinal Research (FRR), the founder declared to a room of LCA patients and their families, “Everything has changed. You will all be able to see in your lifetime.” The FRR pointed us to the research team in Boston that would be able to get us a genetic diagnosis.
Less than one year later, thanks to Dr. Eric Pierce and his team Massachusetts Eye and Ear, Sofia finally received a genetic diagnosis: IQCB1/NPHP5. This is one of 19 genes associated with LCA that have been identified. With this diagnosis, and with recent successes in clinical trials of gene replacement for the LCA gene RPE65, we now have hope that Sofia won’t lose all of her sight. In fact, she may even gain sight she doesn’t have today.
In 2013, working with other families like the St. Arnaud’s in Illinois whose two children both carry the IQCB1/NPHP5 defect, we set ourselves to the task of raising funds develop a cure for blindness for her gene. Thanks to the generosity of family, friends, and people across the globe that we have never even met, we raised over $47,000 in just six months. Working with the Foundation for Retinal Research in late 2013, two labs were secured and began researching cures for our gene.
In 2013, with the help of our community and so many family and friends, we raised enough to kick off the first year of research for Sofia’s gene. But we know we can’t stop there, so in January of 2014, we decided to establish our own organization that will work to fund the development of cures not just for Sofia’s gene, but also to support diagnosis, treatment and cures for children and adults suffering from blindness caused by any of the up to 20 genes related to LCA.
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 LCA and blindness.