Hi, We are the Julian Family and our daughter Riley is 2 years old. We live in Ramona, California which is a small town located in San Diego County. It wasn't long after we were married we knew we wanted to become parents and we were thrilled to find out we were pregnant. Riley was born November 6th, 2013. We were so happy to bring home a beautiful, healthy baby who was so happy and easy going. Around 2 months old we noticed a problem with Riley’s vision. She wasn’t making eye contact with us and was making abnormal eye movements that we later learned was nystagmus. We made an appointment to see her pediatrician, after the exam he seemed concerned. He suggested we go straight to the Children’s Hospital ER Department in San Diego for further testing and a evaluation from neurologist specialist. We spent the next three nights a Children's Hospital terrified and confused. At this point we had no idea what the cause could be. After two MRIs and an EEG they ruled out seizures and tumors. Our last day in the hospital we saw a ophthalmologist and she took a look at Riley retinas, she saw some evidence of a retinal disorder, and didn’t really tell us much other than it is possible our baby was blind or visually impaired. Our next step was to go see a retina specialist at UCSD. Those first few days we had a whirlwind of emotions, we were so grateful that our baby didn’t have cancer or another life threatening disease, but we were overwhelmed and blindsided trying to process the idea that our child could be blind.
During our visit with the retinal specialist at USCD he gave us a preliminary diagnosis of LCA (Lebers Congenital Amaurosis) and told that most children with this diagnosis have very little to no vision. We were sent home and told to come back when she was 6 months old to get further testing to confirm the diagnosis, there wasn't much else to do at that point. I remember leaving that office paralyzed with fear, how was I going to raise a blind child? Fear and doubt over took my thinking. We found out that the only thing we could do in the next four months was to start Riley with early intervention services, to make sure that her development was progressing. During this time we also began scouring the internet for any information we could get our hands on. This was our first peek into the world of support and community that we now cherish so much. We read Gavin Steven's story and a blog written by his mom very early on. I remember crying and being so overwhelmed yet comforted that we weren't walking this journey alone. I will never forget how much I related to Jenn's story and feelings, as if she was reading my mind. We started communicating with other LCA families all around the country and learning everything we could. Meanwhile we were slowly processing the new reality of having a child with an impairment all while trying to be sure Riley was still hitting her developmental milestones.
When Riley was 6 months she was old enough for anesthesia and could undergo an ERG. This test confirmed a clinical diagnosis of LCA. That summer (2014) we attended the Biannual LCA Family Conference in Boston where we had genetic testing done to try to identify Riley's gene mutation. Up until that time we were still mourning the loss of Riley's vision, but at the conference we felt so inspired and motivated that no matter what Riley was going to live a happy, and fulfilling life. We learned so much about the advancement in gene therapy and for the first time as new parents we finally felt like we belonged. A few months after the conference we got the results back that Riley had LCA gene mutation NMNAT1. As funny as it sounds, this was happy news for us as we already had developed a bond with Gavin and Liam and their families who already knew they had NMNAT1 and also lived in Southern California. We had attended fundraisers and spent time with them so we felt like part of their family. Around this time we were started noticing that Riley did have a small amount of vision. She can identify some colors, and objects. When she wants to look at something she holds it about 2 to 4 inches from her face. Currently we are still unsure what exactly she sees, however we do know that LCA is degenerative so unless we find a treatment or cure, Riley will eventually lose the vision she does have.
Riley is truly a blessing in our family. She is always exceeding our expectations and is thriving in school. She is a happy and typical toddler in so many ways. She loves swimming, animals, building blocks, music and jumping on her trampoline. We are in awe of Riley's ability to map a room and navigate her world with confidence, she never stops moving and playing! We are still learning how or when to adapt her surroundings or activities. We love to see how much joy and happiness she spreads to everyone that meets her, it is infectious. We have also been so blessed to have found the Steven's family, they have inspired us as parents in so many ways. Currently the Gavin R. Stevens Foundation & Research for Sight are funding the NMNAT1 gene therapy lab in Boston. Since LCA is degenerative disease, time is of the essence. Over time the area affected will slowly become worse, which means for those who were born with some remaining vision like Riley, they will continue to lose it. Research has been progressing successfully, however there is much more work to be done and we need your help! Your support will help us further our research and fund a Phase 1 FDA approved clinical trial for NMNAT1 gene therapy.