More Than Just Sunglasses: Meet Lily

If you met Lily, one of the first things you might notice is her sunglasses. 

She wears them on sunny days, cloudy days, trips to the park, holidays, walks with her family and sometimes when you might wonder why she needs sunglasses at all. To Lily, they’re simply part of getting ready for the day. But behind those little sunglasses is a much bigger story. 

Lily is 19 months old and lives with an ultra-rare genetic condition called Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS), caused by a change in the ACTA2 gene.

MSMDS affects the smooth muscle throughout the body. Smooth muscle plays an important role in many of the systems we rely on without even thinking about them, including the heart and blood vessels, lungs, eyes, gut and bladder. 

For Lily, her journey began very early in life. 

At just two weeks old, a heart murmur was detected. By four months old, she had undergone life-saving open-heart surgery to repair a large patent ductus arteriosus (PDA).

Eventually, genetic testing gave Lily's family an answer: she had a change in her ACTA2 gene, causing MSMDS. 

It was a diagnosis doctors have never heard of. 

Despite everything she has faced, Lily is a happy, determined little girl who loves exploring, 
playing and keeping everyone around her very busy. And one of the most visible signs of her condition is in her beautiful eyes. 

Why does Lily wear sunglasses?

Lily was born with congenital mydriasis, which means her pupils are permanently dilated. She also has a partially developed iris.

The iris would normally help control how much light enters the eye by changing the size of the pupil. Because Lily's pupils remain large, more light can enter her eyes, making her particularly sensitive to bright light.

That means sunglasses aren't simply a cute accessory for Lily, they help make the world around her more comfortable. 

Her family quickly realised that sunglasses were going to become part of everyday life.

And that's where Babiators came in. 

Anyone who has tried to persuade a toddler to keep anything on their face will understand the challenge! 

Lily needs sunglasses regularly, so finding a pair that she was happy and comfortable wearing was really important.

Her Babiators have become part of her everyday routine. They're lightweight and comfortable on her little face, and the flexible frames are ideal for a very busy toddler who certainly doesn't treat her sunglasses delicately!

Most importantly, Lily is happy wearing them.

In fact, she has become so used to her sunglasses that they're simply part of who she is. Put her shoes on, grab what you need for the day... and don't forget Lily's Babiators.

For her family, seeing Lily happily running around in her sunglasses is a lovely reminder that something she needs because of her condition can also be something she genuinely loves wearing. 

And yes - she does look pretty cool in them too. 

Turning Lily's diagnosis into something bigger 

When Lily was diagnosed, her parents were faced with a condition they had never heard of and a future filled with uncertainty.

There was no simple treatment pathway, very little awareness and an incredibly small community of families around the world who understood what an MSMDS diagnosis meant.

So Lily's family decided to do something about it. 

They founded ACTA2 Alliance UK, a registered UK charity dedicated to supporting people affected by ACTA2-related conditions, raising awareness and helping to fund the research needed to create better treatments for the future. 

The charity is working with researchers and clinicians in the UK and internationally, with the hope of changing what an ACTA2 diagnosis could mean for the next generation of children. 

For Lily's family, the goal is simple: a future where families receive answers sooner, where doctors know what to look for, where people living with ACTA2 conditions receive the specialist care they need and where there are treatments available rather than simply monitoring the condition as it progresses. 

A little pair of sunglasses with a much bigger story 

When someone sees Lily in her Babiators, they might simply see a very cute toddler in a pair of sunglasses. 

Her family sees something else too. 

They see a little girl who has already been through open-heart surgery. A little girl growing up with an extraordinarily rare condition. A little girl who continues to smile, explore and get on with being a toddler despite everything happening behind the scenes. 

And they see an opportunity to start a conversation. 

Because every person who asks, "Why does Lily wear sunglasses?" is another person who can learn about MSMDS. 

Another person who now knows the name ACTA2. 

And another person who can help bring an ultra-rare condition out of the shadows. 

If you'd like to learn more about Lily's story, ACTA2-related conditions or support research into future treatments, please visit www.acta2alliance.co.uk.