Phoebe is a happy girl and she is almost 13 years old, she is unable to walk but is the quickest bum shuffler. Her speech has come on very well and can say small sentences. She is long sighted and wears glasses and now attends a specialist school full time. Phoebe loves music, playing games, horseriding…
Andrew Robinson was born on August 23, 2011. He was, to our knowledge, the first to be diagnosed with CTNNB1 Syndrome (at that time there wasn't a syndrome) in 2014 in the United States. We live in Norman, Oklahoma. Andrew knows no limits. He has been integrated in a regular education classroom since Kindergarten. He just…
"Silvia ha 10 anni...e frequenta la scuola primaria. È verbale ..ma presenta ritardo cognitivo... motorio... disturbo del comportamento e deficit dell'attenzione. È molto simpatica e socievole...ma anche molto facile al pianto. Vuole essere sempre al centro dell'attenzione con modo molto molto infantili. Le piace stare con i ragazzi della sua età...cosa che diventa sempre più difficile…
"Julius is our 9 year old rainbow baby. We found out he had CTNNB1 at the age of 3. The first two years of his life, we were pretty perplexed and unaware as to what was contributing to his major developmental delays and severe hypotonia. He faced many challenges but also accomplished many goals, which at…
Rosalie is 3 years old. She got her diagnosis on her 2nd birthday. Rosalie uses a wheelchair to get around and is learning to use a walker. Rosalie is determined and loves to learn new things. She is now a big sister and loves helping take care of her baby brother. Rosalie loves all things pink…
Emma was a medical mystery for almost 8 years. Appointment after appointment, yielded very little answers. MRI's came back normal. When she was 3 we met with genetics and the geneticist basically looked at us and told us nothing was wrong. We were extremely discouraged by this and at a loss. It took almost 5 years…
Caleb is a happy nine-year-old boy and can be seen with a smile on his face almost all the time! Since his diagnosis of CTNNB1, he has progressed in many ways, including physical, occupational, speech, and academic areas. His school provides him with a pull out math class, and a language arts program that helps him…
Rowan is 4 years old and is currently in preschool. Rowan is very smart and already passing tests for kindergarten readiness in school. He knows the alphabet and is able to read many short words. Rowan loves learning about words and numbers. He enjoys art, books, and shopping trips with family. Rowan has recently started walking…
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…