From the very beginning, we knew that Paige was precious — full of light, laughter, and determination. But as she grew, we began to notice she wasn’t meeting certain milestones like other children her age. After countless tests, hospital visits, and years of searching for answers, in November 2024 we finally received a diagnosis that changed everything: CTNNB1 Syndrome — a rare genetic condition that affects brain development, muscle tone, movement, and communication.

For Paige, this means living with spasticity (stiff muscles) and dystonia (involuntary movements), as well as a heightened startle reflex that makes mobility even harder. Paige loves being around people and is always eager to communicate, but because her speech can be difficult to understand, she often becomes frustrated and anxious when she’s away from her family. Despite these daily challenges, Paige faces life with courage, joy, and determination that inspires everyone who meets her.

In November 2023, Paige underwent double hip surgery to get her hips back into the correct position. Recovery was tough, and while the surgery was necessary, it initially increased her spasticity and reduced her mobility. Since having the metalwork removed in July 2025, Paige has made incredible progress through weekly private physiotherapy. Every small step forward is a huge victory — but we know there’s still a long road ahead.

CTNNB1 Syndrome was only discovered in 2012, and there are currently fewer than 500 people worldwide with the diagnosis. Because so little is known, Paige is taking part in a five-year longitudinal study with the CTNNB1 Foundation, helping researchers understand the condition and how it changes over time. From what has been learned so far, for many affected individuals, symptoms can worsen with age, and hard-earned skills may be lost. Without intervention, this condition can have a severe and lasting impact on quality of life.

Right now, there is no cure — only supportive therapies to manage symptoms. But for the first time, there is real hope. The CTNNB1 Foundation is about to launch a gene replacement therapy clinical trial aimed at not only halting the progression of symptoms but also restoring lost functions and supporting new developmental gains. This treatment could be truly life-changing, offering children like Paige the possibility of improved mobility, communication, and independence.

The CTNNB1 Foundation, established in 2021, is a non-profit organization dedicated to improving the lives of children with rare genetic conditions. Because these are “orphan diseases,” they are often overlooked by large pharmaceutical companies — leaving it to parents and small research groups to drive progress. Much of the funding so far has come from the tireless efforts of families and a handful of corporate and government supporters worldwide.

Recently, we received incredible news: Paige could be eligible to be included in the first cohort of this groundbreaking clinical trial. While this isn’t guaranteed — as there is still a screening process once the trial is approved — if accepted, treatment could begin very quickly.

Unfortunately, accessing this treatment comes with enormous costs. We would need to travel to Slovenia and stay for around four months, covering medical expenses, hospital admission, insurance, accommodation, and lost income while away from work.

We are determined to do everything possible to give Paige this chance — but we can’t do it alone. Your help could make this possible.

Every donation, no matter how small, brings us one step closer to giving Paige — and other children like her — the chance at a brighter, freer future full of possibilities.

Paige is a fighter. Her smile lights up every room, and her strength inspires everyone who meets her. With your support, we can give her the opportunity to take part in this groundbreaking therapy and show the world just how incredible these children truly are.

From the bottom of our hearts, thank you for reading our story, sharing it, and helping us bring hope to Paige’s journey.

Love,

Craig, Jayne, Amelia & Paige