Our Story
When Sofia was two, we knew something was wrong
Sofia 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.
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. Through our connection to other families, we learned that our challenging journey wasn’t unique, and we saw the opportunity to help each other by sharing information and support.
Our work has also helped those diagnosed with other rare inherited retinal diseases, including, but not limited to, achromatopsia, Stargardt disease, 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.
Sofia Sees Hope has built a close knit, global community of LCA families and individuals, as well as researchers and companies developing treatments and cures. This growing community not only helps families on their journeys, it helps inform the design of clinical trials and the development of therapies. Patient input is essential to the treatment development process and we are proud to be a partner in that process.
We have come a long way
Today, nearly 30 genes associated with LCA have been identified and most people get a genetic diagnosis in a couple of months. 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. But much more work remains to get more treatments out to patients.
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