Beyond the diagnosis: our story begins

Welcome to Our Journey

Hi, I’m Chloe, mum to an amazing six-year-old girl called Isla.

This blog is our story.

Isla has a rare Chromosome 2q27.3 deletion and Chromosome 8p21.2 duplication, alongside global developmental delay, hypotonia, visual impairment and other complex needs. 

When we first began receiving diagnoses, I felt overwhelmed by the medical terms, appointments and uncertainty. I wanted answers, but I also wanted people to see beyond the paperwork and diagnoses.

Because Isla is so much more than a list of conditions.

She is funny, loving, determined and incredibly brave. She adores cuddles, enjoys sensory toys, loves being around the people she cares about and makes us proud every single day.

Our journey hasn’t always been easy. There have been challenges, worries and moments where the future felt uncertain. But there have also been incredible achievements, moments of joy and milestones that meant the world to us.

I created this blog to share our journey honestly, raise awareness of rare chromosome conditions and connect with other families walking a similar path.

Most of all, I want this blog to celebrate Isla—the little girl behind the diagnoses.

Thank you for joining us as we share our story, our challenges, our victories and everything in between.

Chloe x

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