Supporting the LCA and rare retinal disease community
We see a cure for blindness.
What is Leber Congenital Amaurosis (LCA)?
LCA is a rare inherited retinal disease characterized by severe vision loss at birth. While some children are born with little or no vision, others may have significant vision loss in the first few years of life, stable vision for a period of time, and then eventually complete vision loss as the retina deteriorates into total blindness.
What We Do
Founded in 2014, Sofia Sees Hope is a nonprofit 501(c)3 patient advocacy organization dedicated to generating awareness, raising funds for research, and providing support, education and outreach to the LCA and rare inherited retinal disease community.
Thank You to These Organizations
for their Ongoing Commitment to Sofia Sees Hope.
Let’s Get Social!
Being diagnosed with an #IRD can sometimes take years & be frustrating and scary. Sharing patient stories helps end that isolation and frustration. Sarah let us follow her son Creed's #LUXTURNA treatment. https://t.co/xNdK2RWVeO #ShareYourStory @rarediseaseday @spark_tx
In today's lead up to #RareDiseaseDay 2/29, we share Tami Morehouse’s story. At 44 she became the oldest person in a successful #LCA #RPE65 genetic therapy trial (2009), and the first patient to receive the retinal therapy in both eyes. https://t.co/toLr9z0uaS #ShareYourStory
When Laura Steinbusch realized her toddler Enzo, who has LCA10, could easily learn new words in French or English through songs, she began working on a multilingual children’s songbook for blind children. She published it last year. https://t.co/gotCbR8DSr #ShareYourStory
Dami's story is an example of why we advocate so strongly for genetic testing. Knowing your diagnosis and your gene can present options you otherwise wouldn't know about. https://t.co/g6U6TEWwFB #ShareYourStory @rarediseaseday @RareDiseases @fightblindness
Rare Disease Day is 8 days away! We continue to share the stories of individuals with LCA and other IRDs in the lead up.
We are so grateful to those who are willing to share their stories, because in the rare disease community, it can be really challenging to find others "like" you. Receiving a rare disease diagnosis can sometimes take years, and be frustrating and scary. And once you get that diagnosis, you are not sure where to find help or information.
Sharing patient and caregiver stories helps end that isolation and frustration. Sarah was kind enough to let us follow her son Creed through his LUXTURNA treatment two years ago. And through our Family Connections program, Sarah was able to talk often with Tami Morehouse before, during and after Creed's treatment.
#ShareYourStory
An Amazing Year - Sofia Sees Hope Florida Boy Loves Life After Gene Therapy
sofiasees.org
Creed Pettit is a 9-year-old Florida boy who completed treatment in March with the gene therapy drug LUXTURNA™, the first gene therapy for LCA2 (RPE65).In today's lead up to Rare Disease Day on February 29, we share the story of Tami Morehouse. At age 44 she became the oldest person in a successful LCA-RPE65 genetic therapy trial (2009), and the first patient to receive the retinal therapy in both eyes.
Tami didn't have a diagnosis of Leber congenital amaurosis until she was in her 30s, despite having vision problems since infancy.
Today, Tami is an ambassador for Sofia Sees Hope, and has been an integral part of our Family Connections program, in which we pair up LCA patients and caregivers who have the same genetic variation for conversation and support. She has also been a presenter at both our LCA Family Conferences, talking about her experiences.
Read our original post about Tami here: sofiasees.org/rpe65-trial-patient-theres-much-see/
Learn about our Family Connections program here: sofiasees.org/for-families/connect/
#shareyourstory
Successful RPE65 Trial Patient: "There's So Much To See"
sofiasees.org
At age 44 Tami Morehouse became the oldest person in a successful LCA-RPE65 genetic therapy trial, and the first to have it in both eyes.