Fighting For Lia
Our Daughter Lia was born in March 2018. Like all new parents it was the happiest day of our lives. However, when Lia failed her newborn hearing screening we soon learned that she was born with profound hearing loss - she was deaf. Our world was rocked. We were scared and confused, and didn’t know what our options were or what the future held. We had not heard of Cochlear Implants up until then. When we found out Lia was a candidate for implants it gave us new hope, we had an option and a plan to give our girl the gift of sound and the ability to communicate within our hearing world. We knew it would be a ton of work and we were ready. We had come to terms with our unfamiliar circumstances and were on a path we could manage.
On Friday, August 3rd 2018 we received Lia’s genetic test results and the cause of her hearing loss - Lia was diagnosed with a rare genetic disease - Usher Syndrome 1B due to variants in the gene MYO7A. We were devastated. In addition to congenital deafness, Usher Syndrome 1B results in severe vision loss due to Retinitis Pigmentosa, and starts at a young age. I cried every day for weeks on my commute to work. There is no treatment for this genetic disease - yet. We don’t know how much time she has before her vision starts to degenerate and we are absolutely frightened…but we fight, because it’s the only thing we can do.
We fight because there’s hope. We fight for treatments and cures we see on the horizon due to major medical breakthroughs. We fight for the scientists, researchers and clinicians who are working on these treatments that can save our daughters sight and others like her. We fight for those who hope to regain their vision and those who live in fear of losing it. We fight to raise awareness, but more importantly we fight to raise money for attainable cures and treatments that are often deemed too financially risky because of the rarity of these diseases. So much progress has been made within the inherited retinal disease space. New gene therapy treatments have been approved by the FDA and clinical trials are currently in progress for other treatments, but there is still so much work to be done. We are getting closer to finding treatments and cures, but it’s a race against time for all patients. Our hope fuels us to continue until a solution is found. Please join us in this fight to save sight now.
Lia, Rosalyn and Justin