Preston is 12 years old and is in 6th grade, his first year of middle school! He attends a local public school in the special ed/life skills program, and is a part of his school’s band- playing percussion. He also participates in a weekly bowling league and plays Challenger League baseball in the spring and summer.…
Davis is the most loving and joyful 3 year old around. He captures the heart of all those he comes into contact with. His infectious laugh and ear to ear smile can light up a room. Davis loves music, being outside and playing with sensory toys (sand, water beads, etc). Davis has grown tremendously over the…
Riley is 14 years old and currently in the 7th grade. She loves going to school and being with her friends, and her favorite activity is riding anything that goes fast and can make her feel the wind in her face. She's a fantastic helper to her family, most often keeping her little sister's toys picked…
A recent article from Mark Corbett and Sayaka Kayumi from the University of Adelaide in Australia shows that CTNNB1 can often be misdiagnosed as Cerebral Palsy. Studies show that one-quarter of CP cases are genetic in nature. In their study, CTNNB1 was the most frequently affected gene (4% of diagnoses) in a group of 1345 individuals…
https://now.tufts.edu/2022/10/18/tufts-scientist-teams-families-find-treatment-rare-disease#top
Read about this incredible CTNNB1 family who is making a difference and raising money for research for their daughter Savannah and so many other children just like her. We have all walked down this winding path to a diagnosis in a very similar way. The hope is one day instead of being told "your child has…
https://youtu.be/7XM4675se4Q
The Simons Foundation has agreed to fund the development of 5 IPSC cell lines for preclinical drug testing. We are thankful for the generosity and support of this foundation which is committed to better understanding genetic neurodevelopmental conditions. ACCT is pushing full steam ahead to lay the necessary groundwork to appeal to the FDA for a…
If you haven't subscribed to Once Upon a Gene, produced and narrated by CTNNB1 mama Effie Parks, you are missing out. This weeks show "A Rare Collection, this is Us" features four CTNNB1 moms telling their stories about raising a child with special needs. The podcast as a whole is beautifully produced and truly unites the…