This MPS Awareness Week, we hear Ayla’s story. Diagnosed with MPS I Hurler when she was 22 months old, Ayla is at the heart of a close‑knit and outgoing family unit. Her mum Leah shares how they have navigated challenging times with love and determination, always focusing on Ayla’s extraordinary strength, the joy she spreads and the pride she inspires in her family.
Ayla is funny, fearless, sassy and completely full of life. Nothing is ever too much for her. Chaotic is probably the perfect word to describe our home.
We are a loud, upbeat family who laugh constantly, even on the hardest days. We truly believe that positivity has carried us through the darkest moments of the last two years.
Diagnosis
In January 2024, our lives changed forever when Ayla was diagnosed with MPS I Hurler Syndrome, an ultra-rare, life-limiting genetic condition.
Before her diagnosis, Ayla spent much of her early life unwell. She suffered repeated chest infections, chronic congestion, breathing difficulties and delays in reaching her milestones. In just 22 months, she attended hospital or GP appointments 22 times.
As parents, we knew something wasn’t right, but for so long we felt unheard.
We had never heard of MPS and despite our concerns, we often felt dismissed and overlooked.
Everything changed during a hospital admission in August 2023 for yet another chest infection. One consultant finally looked at Ayla as a whole child rather than just another illness. She noticed Ayla’s facial features, listened to our concerns and suggested genetic testing.
For the first time, we felt seen. We felt validated.
We were told results would take around 12 weeks but when we returned in November, we discovered the genetic testing had actually been refused. By then, more symptoms had appeared. Ayla’s liver and spleen had become enlarged, her breathing had worsened and concerns were growing rapidly. The consultant pushed again for testing and told us she believed Ayla had a metabolic condition.
In January 2024, we received the devastating news that our daughter had MPS I Hurler.
Treatment
Nothing prepares you for hearing that without treatment your child may not survive beyond childhood.
In a single moment, our entire world fell apart.
We were suddenly thrown into a frightening medical world we knew nothing about, faced with impossible decisions and terrifying uncertainty. We were told the only treatment available was a stem cell transplant.
Ayla began eight weeks of enzyme replacement therapy before being admitted to Birmingham Children’s Hospital in March 2024 for her transplant.
Watching your child endure something so physically and emotionally demanding is indescribable. But Ayla faced every single moment with extraordinary courage. Even during the darkest days of treatment, she still found reasons to smile, laugh and bring joy to everyone around her.
Her strength carried all of us.
The recovery was long and incredibly challenging but Ayla exceeded every expectation. She fought through every setback with resilience far beyond her years and today we are endlessly proud of how far she has come.
Our son Caleb has also shown remarkable bravery throughout this journey.
At such a young age, he had to cope with his mum leaving home for long periods to stay in hospital with Ayla, while trying to understand why his sister was so poorly. The strength and compassion he has shown as a brother has been nothing short of incredible.
Recovery and support
One of the most emotional milestones in Ayla’s recovery was watching her start nursery school in September 2025 alongside her brother and her two older cousins, a moment we once feared we may never see.
Watching her walk through those school gates felt monumental.
She has absolutely thrived in mainstream school, bringing her huge personality, determination and joy into her classroom and is adored by her peers and teachers.
Throughout every stage of this journey, the MPS Society has been a lifeline for our family.
From the moment of Ayla’s diagnosis, they have treated us with compassion, understanding and unwavering support. They supported us emotionally when the weight of everything felt unbearable, helped us navigate practical challenges and connected us with other families who truly understood what we were going through.
That sense of community has meant everything.
The MPS Society also worked closely with Ayla’s school and nursery, providing training, guidance and support to ensure she could continue to thrive in education safely and confidently. Knowing we are not facing this journey alone has made all the difference.
One of the hardest parts of living with MPS is learning to hold two emotions at once. We are overwhelmingly proud and grateful for how well Ayla is doing, yet at the same time we grieve the life we once imagined for her. We know there will still be difficult days ahead. Her future remains uncertain and there is a constant undercurrent of fear that never truly leaves you as a parent.
But this journey has also taught us to treasure every single moment. To celebrate the ordinary things. To find joy wherever we can. To laugh loudly, love fiercely and never take a single day for granted.
Fundraising
Inspired by everything the MPS Society has done for our family, Ayla’s dad Sam has taken on several fundraising running challenges, including the London Marathon, to give something back to the charity that has given us so much.
Running 26.2 miles is an enormous challenge but in comparison to what children living with MPS endure every day, it feels small.
The true heroes are the children and families facing these devastating conditions with courage every single day.
The support we received for the London Marathon has been overwhelming and deeply emotional. Every donation, every message, every person cheering from the side-lines helped remind us that awareness matters.
For rare diseases like MPS, awareness can change lives.
The funds raised through events like the London Marathon help families access support, information, advocacy, research and the reassurance that they are not alone in the darkest moments of their lives.
Attending the MPS Matters Conference showed us just how extraordinary this charity truly is. The work they do reaches far beyond practical support. They create hope, connection and strength for families navigating unimaginable circumstances.
The power of positivity, community and love
An MPS diagnosis changes every part of your life. It is impossible to fully explain the mental load, the fear and the heartbreak that comes with it. In an instant, the future you imagined disappears and you are forced to rebuild your world around uncertainty.
But if this experience has taught us anything, it is the incredible power of positivity, community and love.
Even during Ayla’s transplant, when life felt at its darkest, we always found reasons to smile, we held onto laughter wherever we could find it. We honestly believe that spirit, that refusal to stop showing up for each other, is what carried us through.
Ayla continues to inspire us every single day with her strength, determination and joy for life. She reminds us constantly that even in the hardest circumstances, there is still so much light to be found.
Life is incredibly precious and because of Ayla, we have learned to cherish every moment of it.
