Our Vision and Mission
Sofia Sees Hope is a 501c(3) nonprofit patient advocacy organization dedicated to transforming the lives of those affected by blindness caused by rare inherited retinal diseases. Our mission is to generate awareness, raise funds for research, and provide outreach, support and education to those affected by LCA and other rare retinal diseases.
We see a cure for blindness.
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.
BOARD OF DIRECTORS
LAURA MANFRE, CHAIR, CO-FOUNDER
Cloud Technology Partners, a Hewlett Packard Company
PATRICIA COAN, VICE CHAIR
Portfolio Development at Eagle Investment Systems
ELIZABETH BORYSEWICZ, SECRETARY
State of Connecticut Department of Rehabilitation Services
Bureau of Education Services for the Blind
DANIEL KING, ESQ.
Suisman Shapiro Attorneys at Law
GEORGE ADRIAN, O.D.
Groton Eye Center
CHARLES PRIEBE, CO-FOUNDER
Former Construction Executive
STEPHANIE FILIPPETTI, TREASURER
Hoyt, Filippetti & Malaghan, LLC
JEFFREY FINMAN, PH.D.
Jupiter Point Pharma Consulting, LLC
Thames River Family Program
JEAN BENNETT, PH.D., M.D.
University of Pennsylvania
Lisa Carberg Communications
Beth Pite Consulting
Owner of Simply Majestic
Chief of Staff and External Affairs for Mohegan Tribe
Senior Associate and Partner at Cultural Practice, LLC
EMILY PLACE, M.S., LCGC
Senior Genetic Counselor
Ocular Genomics Institute, Massachusetts Eye and Ear Institute
President and CEO of Make-A-Wish Foundation® of America
Elizabeth & George Adrian, O.D.
The Manfre Family
Mystic Lions Club
Elizabeth Pite & Paul McCary
Franco & Luigi Simeoni
Mary Liz James
Laura Manfre & Charles Priebe
Ruthmary & Edward Priebe
Susette Tibus & Chuck Sneddon
Patricia & Stephen Coan, Ph.D.
Jeanette Jezick, O.D. & Peter Wilbanks
Beth & Mike Mondello
Nancy & Christopher Nagy, Ph.D.
Elisse Rosen & Paul Turetzky
Paula & Dennis Widstrom
Annette Tonti, Executive Director
Elissa Bass, Director of Marketing & Communications
Mardy Pryor, Director of Development
Rosanne Smyle, Staff Writer
WHEN SOFIA WAS 2, 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 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 totally blind by the time she is an adult.
We were told the best we could hope for was that the disease would progress slowly, and if she were 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.
But if she were ever genetically diagnosed, there might be a chance for treatment. So for more than seven years, we underwent genetic testing in the hopes of determining which of her genes was defective.
EVERYTHING HAS CHANGED
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 at the Massachusetts Eye and Ear Institute, Sofia finally received a genetic diagnosis: IQCB1/NPHP5. This is one of nearly 30 genes associated with LCA that have been identified. With this diagnosis, and with the 2017 approval for gene therapy treatment of 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 more than $47,000 in six months. That enabled us to support two labs working on cures for our gene. To date, Sofia Sees Hope has provided financial support for research underway at the Foundation Fighting Blindness related to the genes CEP290 and IQCB1/NPHP5. These efforts have been led by renowned researchers, including Dr. Rob Collin, Radboud University Medical Center in Nijmegen, The Netherlands, Dr. Anand Swaroop, National Eye Institute and Dr. Wolfgang Baher, The University of Utah. This project has now been picked up by ProQR, a clinical stage biotech company based in The Netherlands, and they have begun a clinical trial for QR-110, a potentially life-changing therapy for people living with LCA 10 due to the p.Cys998X mutation in the CEP290 gene.
WHY SOFIA SEES HOPE?
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 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, retinitis pigmentosa and X-linked retinoschisis (also known as juvenile retinoschisis).
As a rare disease that is not widely known or understood, LCA can often create feelings of isolation, frustration and helplessness. Sofia Sees Hope advocates for all patients to participate in an LCA patient registry to build broader awareness of the incidence and impact of LCA. Registries will also play a critical role in guiding future research, and establishing more effective treatment and patient management guidelines. All families affected by LCA can benefit from opportunities to connect and share information with other families, medical specialists and advocacy groups. A vital element of the Sofia Sees Hope mission is to provide more opportunities for all people affected by LCA to connect and provide mutual support and information.
In short, Sofia Sees Hope aims to make vision a reality for not only Sofia, but for other children, adults and families who are affected by blindness caused by LCA and other rare inherited retinal diseases.
— Laura Manfre & Charles Priebe