The story of Sophia
Sophia Rose was born in 2007 to proud parents Rachel and Gary in Laguna Beach, CA, USA. We did not receive the diagnosis of her RARB mutation until she was 7 years old since whole exome sequencing was not available until 2013. Despite a completely normal pregnancy and delivery, Sophia would not open her right eye after birth and her left iris looked unusual. We were told that she would be blind and have a host of other issues until we started working with a wonderful pediatric ophthalmologist named Dr Simpson. She confirmed that her left eye was functional even though her right one wasn’t.
We also partnered with geneticist, Dr. Kimonis, from a few months after birth to help us get the exome sequenced in June 2015 and answer the questions as to why she had Cerebral palsy and such a unique eye structure. As we delved deeper into the genetic mutation and the amino acids that had been substituted in place of the normal DNA chain for the RARB gene, it became very clear as to why Sophia had experienced many of the physical and developmental challenges over the first 8 years of her life.
Now that we had an actual diagnosis, we were able to backtrack and better define what supplements and medication could truly make a difference in her overall development. While Sophia’s motor challenges have not improved significantly, her cognition and speech capabilities have increased tenfold and continue to show improvement as she continues in her high school journey. Her determination is best described by her nickname: “Sophia the Fierce!”
It was a very long road to get to our diagnosis and we have been presented with additional challenges as we have travelled along this journey. However, we cannot imagine life without our beautiful, witty, smart and slightly sarcastic daughter. Our goal in creating A Cure for Sophia and Friends is to not only provide connections for those diagnosed with a mutation in the RARB gene, but also to support the researchers currently working on our natural history study to discover and potentially create a therapy to allow us to realize the true potential of our unique and ultra RARE children as well.