"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…
Dr. Jacob at Tufts University has identified a small molecule that shows the potential to alleviate many of our dragonfly’s learning and motor symptoms. She has been working diligently with medicinal chemists to find the best version of this small molecule to use in our patients. One version has already been through phase II clinical trials…
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…
The Penn Medicine Orphan Disease Center (ODC) will host the 11th Annual Million Dollar Bike Ride on Saturday, June 8, 2024 to raise money for rare disease research. The Million Dollar Bike Ride brings over 600 cyclists and volunteers to Penn’s campus to ride either 10, 32, or 72 miles starting in the city, and ranging…
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…
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! Step…
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 provide…
Rare 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, research,…