Attention CTNNB1 families! CTNNB1 Connect and Cure is excited to announce our partnership with Invitae’s Rare Patient Network on the Ciitizen platform. We are joining many other rare disease groups that have been using Ciitizen to build high-quality natural history data in a fraction of the time. Researchers and pharmaceutical companies have already used the data…
Ford has piercing blue eyes and a wild mop of curly hair, so blonde it looks white. It reminds me a lot of Doc's hair in Back to the Future. I've never cut his hair nor do I brush it. He tries harder at everything than anyone I've ever met, and he has an infectious laugh…
A wonderful fundraising event had about 180 people in attendance and they raised over $16,000! Read all the details from CTNNB1 mom Diana.
Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with rare diseases access genetic testing. The company has recently launched a no-cost genetic testing program for people with seizures, movement disorders and/or developmental delay. Eligible individuals can receive whole exome sequencing at no cost. This testing analyzes all of the protein-coding regions of your DNA for disease- causing mutations.
Looking for a new fundraiser idea? Effie Parks, CTNNB1 Connect & Cure board member and mom to CTNNB1 son Ford, had a great – and successful – idea for this year's Rare Disease Day. She joined forces with her good friend and fellow Rare mom, Jill Hawkins, to host a “Rare Soiree,” an auction and cocktail…
Isaac is 7 years old and currently in year 3 at school in the UK. Isaac is the most determined child I have ever met, always pushing himself to do more and try again. He has the most infectious laugh and personality and is so cheeky! He currently walks inside short distances unaided but struggles with…
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…