Meet Archer

Our beautiful little boy, Archer, is nearly 3 years old.

If you met him, you’d first notice his huge smile, infectious laugh and the way he lights up a room. He loves making people laugh, cuddles with his family, and works incredibly hard every single day to learn new skills that many children take for granted.

But behind that cheeky smile is a very rare genetic condition called CNOT3-related disorder.

After years of appointments, therapies, scans and genetic testing, we finally received an answer. Archer has a change in his CNOT3 gene—a condition so rare that very little is known about it.

For our family, finally having a diagnosis brought relief, but it also brought a heartbreaking reality…

There is currently no treatment.

How CNOT3 affects Archer

CNOT3-related disorder affects every child differently, but for Archer it has already meant significant developmental challenges.

He has developmental delays affecting his movement and speech and has needed support from physiotherapists, speech and language therapists, Portage, hospital specialists and genetic experts from a very young age.

Things many families experience naturally—first words, climbing stairs, running, jumping or speaking in sentences—have taken Archer enormous determination and countless hours of therapy.

Despite everything he faces, Archer continues to amaze us every day. Every new word, every new skill and every milestone feels like a huge victory.

He is the happiest, funniest and most loving little boy, and we want to give him—and every child diagnosed after him—the greatest chance possible.

Why we’re fundraising

The University of Sheffield, together with Archer’s clinical geneticist, has developed a dedicated research programme focused on CNOT3-related disorder.

This research aims to better understand the condition and investigate ways of restoring normal CNOT3 protein levels, an essential first step towards developing future gene therapies.

The University believes this work could help pave the way towards treatments for children affected by CNOT3-related disorder.

To begin this research, they need to raise £70,000.

This funding would support a research technician and laboratory costs for one year, allowing scientists to:

* deepen understanding of how CNOT3-related disorder affects the body

* investigate ways to restore CNOT3 protein levels

* lay the foundations for future gene therapy research

If successful, this work could lead to a larger three-year research programme aimed at developing proof-of-concept gene therapy.

For families like ours, this represents something we’ve never had before…

Hope.

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Why this matters

Rare diseases often receive very little research funding simply because so few people are affected.

Children like Archer deserve the same hope as children with more common conditions.

Every donation, no matter how small, helps move this research one step closer to becoming reality.

Even if a treatment doesn’t come in time to change Archer’s future completely, we hope that one day another family receiving this diagnosis will be told there is something doctors can do.

That would mean everything.

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How you can help

Whether you donate £5 or simply share our page with others, you are helping to start something that has never existed before—dedicated research into CNOT3-related disorder.

From the bottom of our hearts,

Thank you for believing in Archer and every child living with this incredibly rare condition.

❤️ Ellis, Toby & Archer