Sophia

Year of Birth: 2007
Parents: Rachel and Gary
Home Town & Country: Laguna Beach, CA, USA

A Message from Sophia’s Parents:

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 starting 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 a geneticist from a few months after birth until now who would ultimately help us to get the exome sequenced and answer the question as to why she had Cerebral palsy and such a unique eye structure.  It was a very long road to get to our diagnosis, and we have been presented with additional challenges as we went along this journey.  However, I cannot imagine life without my beautiful, witty, smart and slightly sarcastic daughter.  I learn something new from her everyday, and I hope by sharing our journey with you, we can help you to realize the true potential of your uniquely RARE child as well. 

Donate

Be a part of helping us find treatment options and ultimately a cure for every MCOPS12 Patient Worldwide! ​

Cure MCOPS12 has launched a GoFundMe Campaign! Help us make the Impossible, POSSIBLE!

X