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…
Read More
Are you the caregiver of someone with CTNNB1 syndrome? Join our search for answers by signing up for Simons Searchlight, an international research program with the goal of accelerating science and improving lives for people with rare genetic neurodevelopmental disorders. Your unique experience could hold the clues that scientists need to find treatments and a cure!…
Read MoreCaleb 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…
Read More
CTNNB1 Connect and Cure was selected to participate in the Orphan Disease Center’s Million Dollar Bike Ride this year! This is a huge honor and incredible opportunity for our community. You can support Team CTNNB1 by registering or donating. Anything raised over $20K will be MATCHED up to $30K! Register here: https://charity.pledgeit.org/t/Un6S8G2LT6/join Donate here: https://charity.pledgeit.org/t/Un6S8G2LT6/contribute
Read MoreRowan 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…
Read More
Several recent studies support genetic testing for ALL patients with Cerebral Palsy. The Weinberg Family CP Center at Columbia University has put this into practice. Dr. Jason Carmel, Executive Director, explains “we routinely screen all of our patients with CP for a genetic cause.” This is also the reason we partner with Probably Genetic to…
Read MoreRare Epilepsy Network (REN) is a volunteer network that connects rare epilepsy organizations and broad epilepsy stakeholders to work together to improve the lives lived of our individual constituents. They work to promote and enable successful patient-centered outcomes research, enable successful clinical trials in the rare epilepsies, and increase representation of the rare epilepsies in funding,…
Read More