Basket Auction Fundraiser
A wonderful fundraising event had about 180 people in attendance and they raised over $16,000! Read all the details from CTNNB1 mom Diana.
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May 15, 2023
No-Cost Genetic Testing
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.
May 11, 2023
A Rare Soirée
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…
May 8, 2023
Meet Isaac
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…
May 5, 2023
Meet Mae
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…
April 27, 2023
Meet Guillaume
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…
April 10, 2023
NORD – CTNNB1 Syndrome and Research
CTNNB1 has been updated in the NORD database with new information and associated research about the disorder. https://rarediseases.org/rare-diseases/ctnnb1-syndrome/
April 7, 2023
Meet Glen
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…
March 20, 2023
Geisinger study supports genetic testing for individuals with cerebral palsy
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.
March 11, 2023
Vinaya from Louisiana, USA
Meet Vinaya
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…
March 7, 2023