Hi, I’m Mae and I am 2 years old. I am the big sister to Louise who just turned 1. My mommy and daddy’s names are Emily and Joe, we all live in Minnesota. I’ve made huge strides this past year that include: crawling, pulling to stand, playing with kids despite my sensory sensitivities and I’ve…
Guillaume is almost 3 and a half, and is a very happy and friendly little boy. He started to walk independently and to talk about 6 months ago, but still struggles with climbing, running, and manual dexterity. He loves to sing and play with bubbles, mud, and water. He's started to show an incredible memory and…
CTNNB1 has been updated in the NORD database with new information and associated research about the disorder. https://rarediseases.org/rare-diseases/ctnnb1-syndrome/
Glen is a 17 year old young man and a 10th grader in high school in Wyoming (USA). He LOVES Scooby-Doo, Frozen. Encanto, Power Rangers, Loud House (watching shows/movies or playing/wearing the characters). He is VERY social and loves seeing people he knows. He also loves swimming and riding horses. Hippotherapy is what finally got him…
Meta-analysis shows similar genetic diagnostic yield for cerebral palsy and other neurodevelopmental disorders. Thirteen studies published between 2013 and 2022, comprising 2,612 people, all related to CP and genetic testing, were evaluated by the Geisinger research team. Read more at https://www.eurekalert.org/news-releases/981810?fbclid=IwAR3DQVYNnL03XsTjFVPCfgnH-UtaT93oLIo_UE2YO1ck70IJRj3nZIts3tw.
Vinaya is 6 years old and is currently in 1st grade. She LOVES to dance and play with her finger puppets. Vinaya also really loves to give hugs and affection which we absolutely adore! She watches many videos in different languages (so cool!) and her tablet is her go to for “down time”. Vinaya has mono-alleic…
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…