Our beautiful daughter, Caroline, was born in October of 2014 after a normal and healthy pregnancy. She was a happy and engaged baby, however by eight months she began to miss some of her developmental milestones and exhibited strabismus in one of her eyes.
While the developmental delays were only modestly concerning at first, we began a journey to try to understand the root cause. We met with many development pediatricians, neurologist, orthopedics and other specialist with no conclusive diagnosis but an initial cerebral palsy diagnosis.
However, after further testing, Caroline’s MRI was clear and her first round of genetic testing yielded little answers. Another several months progressed and she exhibited more pronounced delays and we were advised we could do a Whole Exome Sequencing (WES). In April of 2018 we learned she had a very rare genetic syndrome, only known by the name of the gene, CTNNB1.
While our journey has been emotional and at times difficult, Caroline has been relentless in her desire to learn and adapt. After years of intensive therapy, she began walking with a wide gate at two and a half and expressing herself verbally by three.
Today, she continues to learn how to balance herself and with the assistance of her AFO braces is a more confident walker but her muscles fatigue quickly. She struggles to speak and can be difficult to understand, but continues to push herself to communicate. She can be very emotional and has sensitivities to loud noises, certain textures, touches and large crowds can be overwhelming to her. However, she is the most loving little girl who seeks to establish bonds with her family, friends, therapist and teachers.
Caroline recently started Kindergarten and loves to play and interact with others. She adores her brothers and keeps them in line with her sometimes aggressive behaviors, pinches and occasional hairpulling. Her favorite foods are French Fries and Cupcakes, she loves Santa Clause (all year round) and plays with her Minnie Mouse, Peppa Pig and Paw Patrols.
Every day is a gift and an adventure with Caroline, with no day ever being the same. She has worked incredibly hard for every milestone and we are committed to helping her achieve her highest potential.
I enjoyed Caroline’s story. Hearing about her adventures and advances gives me encouragement as we focus on my 3 year old daughter’s life with CTNNB-1.
Our son was also born in October 2014 and was diagnosed with CTNNB-1 related disorder in 2021after WES genetic testing. He is currently doing well in 2nd grade. His biggest challenges are with his limited eyesight and low bone density. He is a really cool kid. I’m excited to know about this organization. Thank you for sharing and working toward gene therapy research.