Meet Marko

Meet Marko

Marko is 9 years old and is currently in 4th grade. He loves drawing and playing with stuffed animals, creating cute role plays. He also loves playing outside, drawing in the ground, discovering rocks, plants and flowers. Marko has a very good appetite: he likes to try new flavors, but he especially loves hamburgers, pizzas, grapes…

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Meet Mary Kate
Mary Kate from Ohio, USA

Meet Mary Kate

Mary Kate is a sweet and sassy 4 year old! She has a love for swimming, swinging, chicken nuggets, honey mustard, and her grandma! She is about to start her third year of preschool, and she loves going every day. Mary Kate goes to PT, OT, and Speech once a week, and she also does hippotherapy…

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Meet Ezra

Ezra is 2 years old and was diagnosed with CTNNB1 in November of 2021. He loves to army crawl around the house and play with toys that’s make any noises or light up. He has learned how to self feed and LOVES all types of food! His fine motor skills are coming along but we are…

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A New Digital Natural History Study for CTNNB1 Syndrome

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…

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Meet Ford

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…

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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.

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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…

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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…

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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…

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