Our Vision and Mission
Hope in Focus 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.
Courtney Coates, Director of Outreach & Development
Rosanne Smyle, Staff Writer
BOARD OF DIRECTORS
LAURA MANFRE, CHAIR, CO-FOUNDER
Advisory & Professional Services – Enablement & Learning
Hewlett Packard Enterprise
ELIZABETH BORYSEWICZ, VICE CHAIR
State of Connecticut Department of Rehabilitation Services
Bureau of Education Services for the Blind
DANIEL KING, ESQ., SECRETARY
Attorney at The Law Office of P Michael Lahan
STEPHANIE F. BROWN, TREASURER
Hoyt, Filippetti & Malaghan, LLC
CHARLES PRIEBE, CO-FOUNDER
Construction Executive, Retired
JEAN BENNETT, PH.D., M.D.
University of Pennsylvania
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 & CEO at Genesys Works
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
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 countless doctor visits and 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. Her prognosis is complete blindness.
We were told the best we could hope for was that the disease would progress slowly. Aside from checking her vision every few years to monitor progression, there wasn’t much else to do medically. Genetic testing was recommended, in the chance there might be treatment for a specific gene variation. For more than seven years we underwent genetic testing. In 2012, thanks to Dr. Eric Pierce and his team at Massachusetts Eye and Ear, Sofia finally received a genetic diagnosis: IQCB1/NPHP5.
EVERYTHING HAS CHANGED
Since then, nearly 30 genes associated with LCA have been identified. In 2017 the U.S. approved gene therapy treatment for one LCA gene, RPE65. Multiple treatments are in clinical trials, and research is proceeding for others.
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.
FOUNDED IN 2014, TO SUPPORT AN ENTIRE COMMUNITY
In January of 2014, we established a 501(c)3 organization to support diagnosis, treatment and cures for all children and adults living with blindness caused by any of the genes related to LCA. This work also helps those diagnosed with other rare inherited retinal diseases, including, but not limited to, achromatopsia, Stargardt’s, choroideremia, Usher syndrome, retinitis pigmentosa and X-linked retinoschisis (also known as juvenile retinoschisis).
Since 2015, Sofia Sees Hope has contributed more than $450,000 to fund research into treatments for IRDs, and to support the free genetic testing and counseling program managed by the Foundation Fighting Blindness.
IN 2021, A NEW NAME
As a rare disease that is not widely known or understood, LCA can often create feelings of isolation, frustration and helplessness. When we founded the organization, our aim was to not only help Sofia, but everyone who is affected by blindness caused by LCA and other rare inherited retinal diseases.
In 2021, Sofia turned 18, graduated from high school, and is enrolled in college. She is beginning the next chapter in her life. Similarly, our organization has grown significantly since we first began, and we thought it was a good time to launch the next chapter of Sofia Sees Hope. Working with a consultant, we rebranded the organization with a new name and logo to reflect our growing global impact: Hope in Focus.
We are an organization that adeptly moves between advocacy and science, keeping those we serve in focus each step of the way. We are bridging the unnecessary chasm between the people who inform the science, and the science that transforms the people. Hope is born of connecting these two sides of the same story.
Our mission in this work remains unchanged. We continue to generate awareness, raise funds for research, and provide outreach, support and education to those affected by LCA and other rare retinal diseases. We are proud of our past, optimistic about our future, and celebrate sharing this meaningful work with each and every one of you. Onward, with Hope in Focus!
— Laura Manfre & Charles Priebe