Meet Lucy! She is one year old and lives in Lakeville, MN. She received her Ctnnb1 diagnosis at just 4 months. Lucy was born with multiple heart defects but luckily her heart has been healing itself and no intervention has been needed so far. Lucy was also born with a detached retina due to FEVR so…
John is 5 years old. He is a very happy little boy. John was diagnosed with PHPV when he was 2 weeks old but was diagnosed with CTNNB1 when he was 3. He loves water play, light up toys and "Hey Duggee". John can walk a very short distance unaided and wears splints (AFOs). John is…
We are delighted to share the great news that lead researcher, Dr. Michele Jacob, Professor of Neuroscience at Tufts University, was recently awarded an NIH grant to conduct proof-of-concept studies of the therapeutic efficacy and safety of gene replacement therapy in CTNNB1 syndrome models. The studies are using two preclinical models of CTNNB1 heterozygosity, an in…
Jackson is 2, he's the happiest lil boy. He's the youngest of 5 kids, he has 1 sister and 3 brothers. Jackson works hard at all his therapies, PT, OT, speech and a school based program 2x per week where he gets to interact with other kids his age. He loves the songs and bubbles at circle time. He…
Hello this is George from the UK. George is 6 years old and he is the happiest little boy! He always has the biggest smile on his face. George loves his family and going to his amazing school with his teachers and his friends . George enjoys sensory play, sensory massages, swimming, and his iPad -…
Eleni (21) and Ileana (7) are both affected by CTNNB1 syndrome. They have three sisters ages 19, 15 and 11 who are not affected. Eleni loves SpongeBob, music, watching signing time and videos on her iPad. She crawls when home but uses a wheelchair when we are not at home. She mostly prefers to stay home…
Isabella is a bright-eyed 4yr old with a contagious laugh. She loves books, music, dancing, playing with her 3 older siblings and any activity that gets her outdoors or in the water. Bella’s favorite activity these days is to get in the laundry basket with the warm clothes and hand us clothes to fold, while laughing hysterically. This…
Marko is 9 years old and is currently in 4th grade. He loves drawing and playing with stuffed animals, creating cute role plays. He also loves playing outside, drawing in the ground, discovering rocks, plants and flowers. Marko has a very good appetite: he likes to try new flavors, but he especially loves hamburgers, pizzas, grapes…
Mary Kate is a sweet and sassy 4 year old! She has a love for swimming, swinging, chicken nuggets, honey mustard, and her grandma! She is about to start her third year of preschool, and she loves going every day. Mary Kate goes to PT, OT, and Speech once a week, and she also does hippotherapy…
Ezra is 2 years old and was diagnosed with CTNNB1 in November of 2021. He loves to army crawl around the house and play with toys that’s make any noises or light up. He has learned how to self feed and LOVES all types of food! His fine motor skills are coming along but we are…