Sophia and our world could change dramatically
Huge news to share with everyone on Team Sophia! I was very fortunate to participate in a conference call yesterday with Sophia's geneticist and the doctor researching her gene mutation in Montreal. They have confirmed that the striatum (part of the brain that affects muscle coordination among other things) is where the defect is found due to her mutation. They have two donors funding research on the effect of this mutation which have already produced two mice models with the exact same DNA as Sophia. The mice are showing the eye anomalies and muscle coordination challenges that we know so well in our beloved Sophia. They are creating a selective RARB antagonist compound which they plan to start testing on the mice to see if it can reverse or reduce the gain of function caused by the gene mutation for improved muscle coordination and at this point who knows what else. They have decided to create a selective compound so that it only (hopefully) targets the areas that are most severely affected and does not go into cells that are functioning fairly normal. They hope to publish their findings next year. There is still a long road ahead, but I remember two and half years ago when we didn't even have a diagnosis and Gary and I sat at a genetic seminar at UCI and were told once a genetic mutation is discovered, the next step is to make a mouse with that mutation. Then the observation and trials to figure out what could work to improve function would begin. As I sat on this call and heard that they were already so far in the process, I had to hold back my tears of joy so I could share what has worked for us and what our next steps are to help facilitate and expedite the process. As I share this story with you, I again find myself reduced to a slobbering mess with a box of tissues. I am so incredibly grateful for the researchers, funders, lab techs and those sweet mice who will most likely make a historic difference for so many individuals and potentially give Sophia the chance to dance all on her own and see her accomplishments. Thank you God for your faithfulness to our beautiful princess and family. I am so incredibly humbled and grateful.