Our mission is to empower families impacted by an SPTAN1 genetic mutation through knowledge, unity, and hope, and to raise awareness about this rare genetic condition. We aim to be a source of information, connecting to ongoing genetic research, support resources, and fundraising efforts.
Our Mission
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Events & Updates
Logan Grace and Iris Grey were born within seconds of each other in January of 2022. After a complicated pregnancy, my husband, our son, and I were ecstatic to welcome our beautiful baby girls into the world. As is expected with twins, they came a few weeks early and so they were promptly taken to the NICU after birth. But what came next was very unexpected. While in the NICU, they struggled to feed orally, struggled to swallow without aspirating, and struggled to keep their oxygen levels up. After 8 weeks in the NICU, Logan finally came home. A week later, Iris did as well, but only after a g-tube had been placed in her little belly until she could grow strong enough to swallow. I was heartbroken but determined to help her get stronger. Unfortunately, the feeding issues continued, as did low tone issues, and eventually, I also realized my girls weren’t looking at me. At 4 months old, we received the diagnosis of Cortical Visual Impairment (CVI). As an artist, I could not imagine having children who could not see. It was devastating news. After that, it felt like our little family of 5 just could not get a break as diagnoses continued to present themselves; microcephaly, epilepsy, sleep apnea, hip dysplasia, hypotonia, dystonia…and eventually we learned of their SPTAN1 gene mutation. We were told it was extremely rare, degenerative, and with no known treatment. I became a shell of a human being during that first year of their lives. And somehow…somehow…I found hope. I scoured the Internet, contacted the academic researchers whose names I saw on the very few publications I could find, and learned that there is a path forward to create a treatment. We just had to find the right people to help us. So, that’s what we did. That’s what we are doing. With today’s technology, we are working with a wonderful team to create an antisense oligonucleotide (ASO) gene therapy. If we start with Logan and Iris - if we create a treatment for their mutation - we can treat so many more children, and we can give our girls the quality of life they deserve.
- Trisha Lockard
Our Story
