Hope for Hailie

25/09/2026

Today, we’re back in ED again, hoping they can get to the bottom of what has been happening.

Hailie absolutely hates coming to ED. Not because she is afraid of hospitals, but because it disrupts her life.

At 16, she wants to be at school, seeing her friends, making plans and living her life not spending hours in a hospital having tests and answering questions she has answered so many times before.

Today we also had medical students coming in again and every time I get the opportunity, I talk to them about Hailie and ACTA2 Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS).

Because one day, one of these students may come across a child whose symptoms don’t immediately seem to fit together - A child with fixed, dilated pupils, a PDA/Aortopulmonary window and other unusual vascular findings, stroke-like symptoms or cerebrovascular changes that may resemble moyamoya.

These unusual features can be important clues. These should prompt consideration for genetic testing of an underlying ACTA2-related disorder, MSMDS

Hailie’s diagnosis took nearly 10 years.

If sharing her story helps even one doctor recognise the pattern a little earlier in another child, then something good can come from all these difficult hospital days.

That’s why we keep talking.
That’s why awareness matters.
And that’s why Hailie’s story matters❤️💜🩵

19/09/2026

Today is Aortic Dissection Awareness Day🫀

For families affected by ACTA2-related disease, understanding the risk of aortic disease, is important.

Current European Society of Cardiology Guidelines recognises ACTA2 as a high-risk genetic cause of thoracic aortic disease, with surgery considered at smaller diameters - 4.5 cm, than in many other aortic conditions.

But size is only part of the picture. Aortic dissection can occur below commonly used surgical thresholds in ACTA2-related disease.

At 13, Hailie underwent major aortic surgery. Her ascending aorta had reached 5.3 cm, and the surgeons described the aortic wall as “very friable.”

Thankfully, her aorta had not dissected before the surgery.

Her surgery wasn’t straightforward aortic aneurysm repair, it involved replacement of the aortic root and ascending aorta, as well as the aortic arch extending toward the proximal descending aorta and replacement of aortic valve. The major vessels coming off the arch including vessels supplying the brain and left arm - also had to be reconstructed.

For our family, aortic disease isn’t just a statistic. It is something Hailie has lived through - and she is showing us how strong she is.

And for families affected by ACTA2-related disease, understanding the risks and having specialist care and appropriate surveillance matters 💜🩵

07/09/2026

Hailie starting 4th year of secondary school -Transition Year, with her sister Jodie by her side💕

A new year, a new chapter and so many things to look forward to.

Hope for new experiences, laughter and memories.
Hope for more ordinary teenage days like this one.

It isn’t just a first-day-of-school picture. It’s a picture of two sisters who have each other’s backs.

Jodie has always been there for Hailie and Hailie is always there for Jodie - supporting each other, cheering each other on and sharing life’s moments, big and small; bad and good💕

We never take ordinary things for granted because sometimes those are the moments that mean the most❤️

07/08/2026

Every so often, something happens that reminds you why you never stop hoping.

The announcement that the VESSEL Project has been awarded up to $25.8 million in ARPA-H funding isn’t the end of our journey and a guaranteed treatment/cure, but it is a powerful reminder that the future for children with MSMDS is changing.

When Hailie was diagnosed, there were so many unanswered questions and so few people who even knew what MSMDS was. Today, there are world-class researchers dedicating their lives to understanding this disease and working towards treatments that once felt impossible.

We are incredibly grateful to Dr. Patty Musolino and her outstanding team at Massachusetts General Hospital. Their dedication, compassion, and determination have given so many families something priceless-hope. They continue to push the boundaries of science because they believe our children deserve better.

That every hospital visit, every research appointment, every blood sample, every family who has shared their story and every person who has supported this community has helped build the foundation for moments like this..

Research is a journey and every breakthrough takes time.This funding means the work can move forward faster. It means more opportunities to answer the questions we’ve been waiting so long to ask. And it means that, now more than ever, a treatment for MSMDS is possible.

Today, my heart is full of hope, because the path ahead has never looked more promising💜🩵

https://www.massgeneralbrigham.org/en/about/newsroom/press-releases/mgb-researchers-awarded-arpa-h-grant-to-treat-rare-genetic-vascular-diseases

Massachusetts General Hospital has been awarded an Advanced Research Projects Agency for Health (ARPA-H) contract to develop advanced personalized genomic medicines to treat rare genetic vascular diseases.

31/07/2026

A few days ago, Hailie turned 16.

Every birthday has become a reminder of just how precious life is.

Hailie has faced more than most people do in a lifetime, yet she continues to amaze us with her courage, resilience, kindness and determination..

This birthday is more than just another year-it’s a celebration of hope, resilience and how far Hailie has come. Every milestone is possible because of the incredible care she has received from her medical team, the dedication of researchers working better to understand ACTA2 MSMDS and the unwavering support of our family, friends and community.

As we celebrate Hailie’s 16th birthday, we remain committed to raising awareness, supporting research and fighting for a future where every child with this rare condition has access to better treatments and one day, a cure.

27/06/2026

Today is International Sunglasses Day so we are getting ready to put our shades on for MSMDS and ACTA2.
Some ACTA2 patients live with severe light sensitivity, vascular complications, aortic disease, strokes, or other serious symptoms. Many families are still searching for answers, and many doctors have never heard of these conditions.



Donation link:
https://www.zeffy.com/en-US/peer-to-peer/turn-msmds-day-into-more-than-awareness

19/06/2026

For families living with ultra-rare conditions, studies like this are so important. Every appointment, test and piece of data helps researchers better understand the condition and will contribute to improved care, future treatments and cure.
We’re grateful to be here, grateful to the research team and hopeful that what is learned from Hailie and the other participants in the Natural History Study of MSMDS will help the entire ACTA2 community.

16/06/2026

The last two weeks have been a little stressful for Hailie as she was sitting her Junior Cert exams. Despite the many challenges and symptoms that come with living with MSMDS, she persevered and managed to complete nearly all of her exams. I am incredibly proud of the determination and resilience she showed throughout the exam period.

Today, we begin a brighter journey as we head to Boston to take part in a Natural History Study. While we are sad to have missed meeting Braxley and her family, who attended the study last week, we are looking forward to meeting a couple of other MSMDS.

We would also like to thank everyone who has supported us along the way. Whether you have donated, shared our story, offered encouragement, or simply followed Hailie’s journey, your support means the world to us.

This Natural History Study has been made possible largely through the fundraising efforts of MSMDS families around the world, who have worked tirelessly to help advance research into this ultra-rare condition. Every contribution, no matter how big or small, has helped bring us to this moment.

As we travel to Boston, we carry with us hope, not only for Hailie, but for every family affected by MSMDS. We are grateful to be part of a community that continues to push for answers, awareness and a better future💜🩵

There is still time to contribute to our campaign in June in hopes to get enough funding to have another family to participate in the Natural History Study.

https://www.zeffy.com/en-US/peer-to-peer/turn-msmds-day-into-more-than-awareness

10/06/2026

Today is MSMDS Day💜🩵

I’m sharing this beautiful video from the ACTA2 Alliance featuring the wishes of some of the children living with MSMDS, including Hailie.

As Hailie’s mum, these wishes remind us that behind every diagnosis is a child who wants the same things as every other child:opportunities, independence, family, friendship and a bright future.

Please take a moment to watch, share, and help raise awareness of MSMDS and ACTA2-related conditions.

And if you’re able, please consider supporting the Building a Legacy Together campaign to help fund much-needed research.

Today, we kindly ask you to:
💜🩵Learn about MSMDS
💜🩵Share this post
💜🩵Help spread awareness
💜🩵Support rare disease research and advocacy
💜🩵Stand with the MSMDS community
Together, we can make rare diseases less invisible.

Building A Legacy for the MSMDS Community Today is MSMDS Day, and...

06/06/2026

Thank you for sharing this, Angela❤️💜🩵

I'm so grateful that we met last year at the MSMDS conference. Reading your story reminds us that behind every diagnosis there is a family, a journey, hope and a mother's love that has no limits and can move mountains. It is not easy to revisit those memories and we appreciate you sharing them with all of us.

As the founder of Qué Pupilas Màs Grandes Tienes in Spain( What big pupils do you have) and a board member of the ACTA2 Alliance, Angela has done so much for the MSMDS families -gone far above and beyond in supporting families around the world, raising awareness and funds for research, sharing knowledge and helping parents navigate a diagnosis that so few people understand.

Your kindness, strength, energy and positive spirit have been such an inspiration to our family and to so many others. Most importantly, you are incredible mom to Jimena and David. Your love, dedication and determination shine through everything you do. It really does🫶

I truly believe that with advocates like you leading the way, raising awareness, supporting research, and bringing families together, we are getting closer to a cure.

Thank you for your friendship, advocacy, compassion and for everything you do for our MSMDS families. We are so grateful to have you in our lives❤️