Shreve’s Story - Finding a Cure for Ctnnb1

02/28/2026

I never imagined I would learn how to pronounce a gene name… let alone have it become the word that changed our entire world. But CTNNB1 did.

CTNNB1 syndrome is ultra-rare — fewer than 500 diagnosed individuals worldwide. A number so small it feels impossible… until you realize every single one of those numbers is a child who fights harder than anyone should ever have to. Children who work for months, sometimes years, just to speak a single word… take a single step… communicate a single need.

And while they fight, we fight too. We fight through the moment a doctor looks you in the eye and tells you your child may never walk or talk.We fight through hospital rooms and fluorescent lights and the sound of our own child crying as we hold them down for blood draws, testing and exams—anything that might give us answers, or hope, or both. We fight through hours of therapy every day, because while other kids climb trees and chase friends, ours are learning to strengthen muscles that don’t cooperate, bodies that feel heavy, communication that takes everything they have.

We fight grief we never asked for. We grieve the childhood they deserved. We grieve the future we thought we’d have—team sports, school dances, college visits, weddings. Instead, we are researching symptoms, advocating, and trying to financially plan for a system that is already failing the families who rely on it. It’s terrifying. It’s exhausting. It’s unfair.

And yet—our children are resilient.They are joyful. They are determined. They shine in ways the world doesn’t always see. They deserve more.

CTNNB1 Connect & Cure and CTNNB1 Foundation are fighting for that “more.” They are funding research, supporting families, uniting scientists, and pushing forward toward real treatments—because our kids shouldn’t have to work this hard forever. And neither should we.

But research does not move without funding.
Progress does not happen without people who care. If you have ever wanted to make a real, tangible difference in a rare disease community—this is that moment. Donate. Share. Stand with these incredible dragonflies and the families who love them fiercely. Because rare doesn’t mean small. Because our kids deserve every chance at a brighter, fuller future.

Donate:

https://givebutter.com/dragonfly/shrevemcwilliams1

https://givebutter.com/ctnnb1genetherapy/shrevecoopermcwilliams

02/23/2026

https://youtu.be/QETJFbr-hmc?si=igvzD1hCDh3W6jWf

Since 1956, Goodwill Gulf Coast has been supporting children with disabilities and their families across our communities.Shreve was born prematurely and late...

11/04/2025

The best news I’ve ever seen!! 💙

𝗢𝘂𝗿 𝗖𝗹𝗶𝗻𝗶𝗰𝗮𝗹 𝗧𝗿𝗶𝗮𝗹 𝗛𝗮𝘀 𝗕𝗲𝗲𝗻 𝗔𝗽𝗽𝗿𝗼𝘃𝗲𝗱!

We are beyond excited to share the news that our clinical trial application has been officially approved! 🎉

This marks the biggest milestone in our foundation’s history. The first-ever CTNNB1 gene therapy treatment is on its way.

We want to extend our deepest gratitude to our amazing team of researchers, including Dr. Damjan Osredkar, our Principal Investigator, who will be leading this study, our preclinical scientists Dr. Leszek Lisowski, Dr. Andrea Perez-Iturralde, Dr. Duško Lainšek, and so many others who have made this dream possible.

❓What happens next?
The clinical trial, GAIN-CTNNB1, is a Phase I/II open-label trial designed to evaluate the safety, tolerability, and early signs of efficacy of our AAV9-based gene replacement therapy, delivered directly into the brain (bilateral intracerebroventricular administration). The study will soon be officially registered on ClinicalTrials.gov, and CTNNB1 patients will be able to apply for participation.

We are filled with hope and gratitude as we take this historic step forward, for our children, for our families, and for the entire CTNNB1 community. 💙

The future has never looked brighter.

08/25/2025

We are getting closer!! Please donate if you can!

https://givebutter.com/c/Shindigforshreve

🔊 Another fundraiser update 🔊

Thank you for every contribution, share, and word of support. Let’s keep the momentum going!

The finish line is in sight, and together, we can cross it. 🙏

Don't forget to donate here: https://givebutter.com/ctnnb1genetherapy

08/05/2025

🍔❤️🍟

This is "The McWilliams Family" by Stephanie Langford on Vimeo, the home for high quality videos and the people who love them.

07/25/2025

Please watch, share, and donate if you can! ❤️

02/21/2025

✨ Shreve had her first session of micro-current electrical stimulation this afternoon. MCN, under the care of a trained provider, uses an FDA registered device that is able to measure electrical signals from the scalp where electrodes are placed and sends a very small micro-current electrical stimulation pulse based on those signals to the nervous system.

🧠 This allows for the delicate release of stuck patterns and ‘disentrains’ the brain where needed. This only shifts unhealthy and dysfunctional brain patterns, leaving healthy ones to continue. The result is a shifted brainwave state and a much greater ability for the brain and nervous system to regulate itself, optimizing brain performance and healing the brain where it needs to be healed.

🌫️ During the process, the brainwaves also stimulate the opening of neuropathways, allowing a detox of toxins and old byproducts of hormones to flush out that have become clogged in the brain over time. These toxins build up from stress hormones released on a daily basis. With enough stress hormones built up over the years or following a traumatic event, we eventually show signs that can include brain fog, loss of concentration, memory loss, anxiety, depression, anger, agitation, PTSD and the list goes on and on. Flushing out these toxins helps relieve these symptoms without using any form of medication all while retraining brainwaves to calm and allow the person to come out of the sympathetic response or ‘fight or flight’.

🤞🏻 It’s completely safe for children and adults and is painless. We are hoping this helps Shreve with her sleeping as well as her speech. Stay tuned!

02/20/2025

🙌🏻 This is an incredible article that summarizes and explains all that several worldwide CTNNB1 organizations are working on for a cure. THIS is what your donations go to. Medical research, testing, labs, etc. is not cheap and bills add up very quickly. Every donation gets us one step closer to a cure for Shreve and the others with CTNNB1.

🧬 Shreve is so lucky to have so many amazing supporters and donors and we are so thankful for every single one of you. I know that from the outside she appears to be a cute little toddler that seems slightly delayed and has some mobility issues. Unfortunately, that’s just the tip of the iceberg and as she ages her symptoms will become even more pronounced and her delays will continue to increase from a typical child. CTNNB1 syndrome is a severe intellectual disability disorder that drastically impacts their lives in every way. It manifests with symptoms of varying severity, including hypotonia, spasticity, cognitive impairment, language impairment, various behavioral challenges, epilepsy, microcephaly, visual impairment, visual problems including strabismus, and congenital heart defects. Sleep disturbances, including difficulty falling asleep and night-time laughter episodes, have emerged as important sleep-related problems. In addition, increased anxiety and aggressive behavior represent a major challenge in everyday life for patients and their families. We already know that Shreve is in the “loss of function” area because of her mutation. It was a hard pill to swallow but I’m glad we got to rip the bandaid off early to prepare for her future. Doctors in Slovenia last year actually thought she may be a mild case because of how well she’s doing from her intense therapy regime but we confirmed that wasn’t the case after looking at where the mutation takes place for her.

🔗 To donate: https://givebutter.com/ctnnb1genetherapy

New Research on CTNNB1 Syndrome! 🧬

We’re excited to share our latest study, “Paving the way toward treatment solutions for CTNNB1 syndrome: a patient organization perspective.”

This research highlights the collaborative efforts of CTNNB1 Foundation, Ctnnb1 Connect & Cure, Asociación Ctnnb1, CTNNB1 Italia ODV, Association CTNNB1 France, and global researchers working towards effective treatments for CTNNB1 syndrome.

🔑 Key Highlights:
- Global Collaboration: Bringing together leading researchers and organizations to accelerate breakthroughs.
- Expanding Disease Knowledge: Critical studies, including Simons Searchlight, genotype-phenotype research, and natural history studies, are driving a deeper understanding of CTNNB1 syndrome.
- Innovative Therapies: Advancing AAV9 gene replacement therapy, small molecule treatments, and RNA/DNA-based approaches.
- Pioneering Clinical Trials: The first-ever CTNNB1 clinical trial for AAV9 gene therapy is advancing (expected to start Q3 2025)

Access to full article: https://journals.sagepub.com/doi/10.1177/26330040251318355

Together, we’re paving the way for a brighter future for those affected by CTNNB1 syndrome! 💙

02/19/2025

🗣️ Shreve got her first AAC (communication device) a few weeks ago and we have been busy modeling it to show her how to use it. She’s working hard at speech and ABA therapy to learn how it works. (We’re learning too…lol. Lots of YouTube videos in our future.)

🧬 A lot of children with CTNNB1 are completely nonverbal so an AAC is crucial for them to be able to communicate their needs and wants. We hope that Shreve will be able to speak actual words eventually but this will be a tool to help her get there.

02/19/2025

Shreve had a rough day yesterday and was unhappy a lot of the day. She cried during ABA, speech, OT, AND when she was getting casted for her new AFO’s and kicked the tech so hard that she had to start over completely and cast them twice. 🙈🫠🤪 Enjoy this brief moment of happiness with Ms. Taylor at OT. 🤣

02/11/2025

We are so thankful for financial supper from Libby's Friends!