If you would like support with rare chromosome disorders, you can learn more from Genetic Alliance UK’s member organisation, Unique. On their website you can find many rare chromosome and gene disorder guides and other resources.

More than you can imagine
This is Lucy’s story which was written about her son who lives with 22Q11.21 Micro Duplication. The story was submitted as part of ‘More than you can imagine: an anthology of rare experiences‘, created for Rare Disease Day 2025.
L.R. sat cross-legged on the carpet, building a tower of blocks with meticulous care. Each piece had to fit just right, perfectly aligned, as if the whole world depended on it. His parents watched from the sofa, their hearts full of love and worry. L.R. had always been unique, living with 22Q11.21 microduplication, autism, ARFID (Avoidant/Restrictive Food Intake Disorder), global developmental delay, and GERD (Gastroesophageal Reflux Disease).
His journey wasn’t easy. There were days when the smallest tasks felt insurmountable. A new texture in his food, an unexpected sound, or even a sudden change in his routine could set his world spinning. Doctor visits, therapy sessions, and special education plans filled his days. Each diagnosis came with challenges that stacked like the blocks he loved so much—precarious, teetering, and overwhelming.
Yet, L.R.’s world was not defined by his diagnoses. It was filled with wonder, creativity, and resilience that often left those around him speechless.
One afternoon, as sunlight streamed through the window, L.R.’s mom noticed something. His tower of blocks had transformed into a sprawling city, complete with bridges and tunnels. ‘L.R., this is amazing!’ she said, crouching down to his level.
L.R.’s eyes lit up. ‘It’s for you,’ he said softly, handing her a block painted with tiny stars.
Mom felt tears prick her eyes. It wasn’t just the city he’d built—it was the way he saw the world. Where others saw limitations, L.R. saw possibilities.
At school, L.R. struggled with communication, but his teacher discovered his talent for drawing. His sketches told stories more profound than words ever could. A shy classmate, inspired by L.R.’s art, began to open up, and soon, the two became inseparable.
L.R.’s challenges didn’t disappear, but his family learned to see them as part of his extraordinary tapestry. ARFID made mealtime tricky, but it also taught them to celebrate small victories—a bite of a new food, a sip of water without fear. GERD brought discomfort, but L.R.’s determination to keep smiling through it amazed everyone around him.
One night, L.R.’s dad sat beside him as he stared out the window at the stars. ‘L.R.,’ he said, ‘you’re teaching us so much—more than we ever imagine’.
L.R. turned to him, his eyes reflecting the starlight. ‘I just see things differently,’ he said simply.
And that was L.R.’s gift: the ability to show the world how to look at life through a lens of beauty, persistence, and creativity. His journey wasn’t just about overcoming obstacles; it was about transforming them into stepping stones for something greater.
Because L.R. wasn’t just living his life. He was building something extraordinary—more than anyone could have ever imagined.
