Lily’s story: Turning a rare diagnosis into hope and action

Nov 10, 2026

Lily and her family on the beach
This blog was written by Rosie, Mum of Lily who lives with Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS). She explains Lily’s story and why ACTA2 Alliance UK was formed: to ensure no family faces this condition alone.
When you become a parent, you imagine a future filled with milestones, adventures, and dreams for your child. What you do not expect is to hear the words “ultra-rare genetic condition” and find yourself navigating a world where there are more questions than answers.

For our family, that journey began with Lily.

Image of Lily
At just two weeks old, Lily was diagnosed with a heart murmur and we were reassured it was probably nothing.

By four months old, she was undergoing life-saving open-heart surgery to close a PDA (patent ductus arteriosus). Lily was also born with permanently dilated pupils, which, as first-time parents, we assumed would change as she developed.

While waiting for Lily to recover in intensive care, we used ChatGPT to help us better understand her symptoms. This led us to identify the possibility of Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS), an ultra-rare genetic condition most commonly caused by mutations in the ACTA2 gene.
Although many healthcare professionals had never encountered the condition before, genetic testing ultimately confirmed the diagnosis.

Today, Lily’s story is the inspiration behind ACTA2 Alliance UK, a charity dedicated to supporting families, raising awareness, and advancing research into ACTA2-MSMDS.

ACTA2 Alliance UK logo

What is ACTA2 – MSMDS?

Image of Lily walking
Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS) is an ultra-rare genetic condition that affects smooth muscle throughout the body, including the blood vessels, digestive system, bladder, lungs, and eyes. Because smooth muscle is found in so many organs, the condition can affect children in a wide variety of ways.

With only a small number of diagnosed cases worldwide, many families face the challenge of navigating a condition that few people have ever heard of.

Why We Created ACTA2 Alliance UK

ACTA2 Alliance UK was created from a simple belief: no family should have to face this journey alone.

 

Our mission focuses on three key areas:

Raising Awareness

By sharing stories like Lily’s, we hope to increase understanding of MSMDS and ensure affected families feel seen and supported.

Building Community

Rare disease families are often separated by geography but united by shared experiences. We aim to create opportunities for connection, support, and collaboration.

Supporting Research

Research offers hope. Every new discovery helps improve understanding of MSMDS and brings us closer to better treatments.

Most importantly, there is growing optimism that advances in genetics and rare disease research could lead to meaningful therapies in the future. While a cure does not yet exist, there is genuine reason for hope.

ACTA2 Alliance UK is currently supporting research exploring innovative therapeutic approaches that have the potential to transform outcomes for people living with MSMDS. Although these projects remain at an early stage, the progress being made gives our community real optimism for the future.

Looking Forward

Lily’s journey continues to inspire everything we do. She has shown us the importance of resilience, determination, and hope in the face of uncertainty.

The future of rare disease advocacy depends on collaboration between families, clinicians, researchers, charities, and supporters. Together, we can raise awareness, strengthen support networks, and help accelerate research into MSMDS.

Lily’s story began as one family’s search for answers.

Today, it has become part of something much bigger: a growing movement dedicated to awareness, connection, research, and hope.

Learn More

To learn more about ACTA2 Alliance UK and our work supporting families affected by Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS), visit: https://www.acta2alliance.co.uk/ or on Instagram: @acta2allianceuk

Read more blogs