Hope for Hailie

17/03/2026

Huge appreciation for the incredible team of Dr Fleischer representing ACTA2 Alliance at the ACMG Annual Clinical Genetics Meeting in Baltimore 👏
Dr. Julie Fleischer and her dedicated team-Kara Skorge, Samantha Siefken and Abe Fleischer are truly making a difference- showing up for our community and raising awareness. Their work is helping clinicians better recognize ACTA2 MSMDS, understand the complexities and ultimately improve care for our children💜🩵

Last week, the ACTA2 Alliance was present at the Annual Clinical Genetics Meeting in Baltimore, organized by the ACMG - American College of Medical Genetics and Genomics. It was an incredible opportunity to reach around 3,000 genetics providers and speak directly with about 100 of them, raising awareness of ACTA2 & MSMDS.

These conversations matter. They help clinicians recognize the signs earlier, understand surgical risks, and ultimately provide better care for our children.

We’re especially grateful for the incredible team behind this effort:
Kara Skorge, Samantha Siefken, Abe Fleischer and Julie Fleischer, geneticist and member of our Scientific and Medical Advisory Board.

Not only did they educate new providers, but they also connected with clinicians already caring for ACTA2 patients, sharing updated research, resources, and opportunities to collaborate.

Samantha also presented new data on MSMDS patients, with plans to publish soon, another important step forward for our community.

This is what progress looks like: showing up, starting conversations, and making sure ACTA2 mutations and MSMDS are seen, understood, and recognized.

If you’re grateful for their work, let’s fill the comments with 👏👏👏 for this amazing team.

28/02/2026

💜 Rare Disease Day
Who would ever think that children can have strokes?
Stroke is rare in children.
MSMDS is rare.
But for MSMDS families like ours, the risk is very real.
Hailie has had a stroke. We just don’t know when.

After her MSMDS diagnosis in 2020, Ellen Hostetler from Professor Dianna Milewicz’s team in Texas suggested she should have a brain MRI. She was referred in Ireland, but we were told the wait could be many years because it would require general anaesthesia. Private clinics declined due to her age when I enquired.

So a couple of weeks later, during a summer trip to Estonia, I contacted a hospital there. When they heard she recently got MSMDS diagnosis, they arranged MRI within two days and without GA or sedation because of the risks anaesthesia can bring.

I remember sitting there thinking this was just another precaution. That there would be nothing there.

But the scan showed old scarring/gliosis - meaning she had already had a stroke along with other distinctive changes characteristic of MSMDS.

I felt the ground disappear beneath me.
How could that be possible?
How did we not notice? How much had she already endured in just nine years of life?

Most likely it happened in her first months of life, when she was already critically ill in hospital. A silent stroke. A quiet injury.
That is what rare disease can look like, things happening that no one expects nor sees-
So we stay vigilant.

behind every rare diagnosis is a child who has already fought battles most will never understand💜🩵

26/02/2026

💜🩵 Two Years Strong

Today marks two years since Hailie’s thoracic aortic aneurysm repair and valve replacement surgery.
It feels like yesterday and at the same time, it feels like a lifetime ago. When I look back, I see just how far she has come and how much this journey has asked of her.

It has been a little bumpy road.
The night before surgery, we were admitted to the hospital. We didn’t get much sleep. The next morning, I walked her down to theatre- holding back tears , gave her a kiss and said, “See you soon,” even though there were no guarantees -especially after the complications during her first surgery. I broke down leaving the theatre, it brought back the memories of her first heart surgery and the fears.
Those ten hours were the longest and most nerve-wracking of my life. I went to get fresh air while a little robin came close and stayed close by…It felt almost like a sign that everything would be okay.

Throughout the day, I received updates saying things were going according to plan. Then around 7pm, I got the call to wait outside the cardiac ICU. It felt like forever.

Professor Lars Nölke came out to speak to me, just as he had after her first surgery. He told me they had also decided to replace her aortic valve- something that hadn’t been planned. Little did we know then what challenges a mechanical valve would bring.

I reached for him and thanked him for saving Hailie’s life again.

Her lungs were inflamed so she needed additional breathing support for eight more days in ICU. Those ICU days were heavy, but we were surrounded by compassion from nurses and doctors who carried us through.

Two years later, we carry scars, strength and so much gratitude.

And as we face new challenges now, I’m reminded of that little robin and of just how strong Hailie truly is.

Hailie continues to show courage beyond her years. Every milestone feels hard-earned. Every anniversary feels sacred.

Hope for Hailie - always💜🩵

23/02/2026

Pulmonary Hypertension Awareness 💜

Hailie was diagnosed with pulmonary hypertension at just one month old.

At the time, we didn’t fully understand everything that was unfolding - we thought it was another one of her rare diagnoses, alongside her heart and lung disease.

Pulmonary hypertension means high blood pressure in the arteries of the lungs. It affects how blood flows from the heart to the lungs and places significant strain on the heart.

In Hailie’s case, it wasn’t a separate condition.

MSMDS affects the smooth muscle cells in blood vessels throughout the body. The pulmonary arteries are no exception. When those vessels cannot function properly, pressure builds.

At just weeks old, Hailie was already fighting battles most people never hear about.

PH can be invisible. You can’t see the strain on the heart. You can’t see the pressure in the lungs. But families living with it know the fear, the hospital stays, the medications and the constant monitoring.

Today, we raise awareness for pulmonary hypertension -one of the secondary diagnoses within MSMDS.
Awareness matters. Early recognition matters

17/02/2026

Rare Disease month Awareness post:
ACTA2 raises the risk of thoracic aneurysm and aortic dissection.

In 2018 Hailie's new consultant mentioned she has a dilation in her aorta, which they had been monitoring for a couple of years. This was already my second or third time I had asked for a referral to see a geneticist. It was the aneurysm that finally brought us closer to the diagnosis.
Hailie underwent major surgery to replace part of her aorta in 2024. At that point her ascending aorta had stretched to 5.3 cm!!! She was incredibly lucky her aorta didn't dissect.

An aortic dissection is a life-threatening tear in the wall of the aorta. It can happen suddenly, and without warning. Symptoms can mimic more common emergencies like heart attack, stroke or pulmonary embolism, which is why dissections are sometimes missed or diagnosed too late.

Living with a genetic aortopathy means constant monitoring, imaging and awareness- because early detection and timely intervention can truly be the difference between life and death.

16/02/2026

This isn’t the awareness post I had planned for February-with it being Heart Awareness Month and Rare Disease Day coming up.

After my last post, Hailie’s headache worsened and she developed new neck pain. For the third time in ten days, I brought her back to ER. This time they listened.

A CT showed a large blood clot in her left carotid artery. I knew something wasn’t right when the smiley technician wasn’t smiley anymore. Possibility of vascular surgery was mentioned. It all felt like a haze.

Good news- the clot is stable. Blood flow around it is good and we remain positive that it shrinks with time. Hailie is back at home resting and living her life with some precautions.

With a mechanical valve and MSMDS, clot risk is something we live with. We monitor her INR closely, as her levels have been unstable at times. They believe the clot is acute, meaning it likely formed in the last few weeks when she was feeling little unwell with various different symptoms.

Even when you do everything right, complications can still happen.

And through it all, Hailie has shown more courage than I ever could. She even tells me to worry less💜🩵

09/02/2026

Another evening, another hurdle. A quick trip to the cardiac ward and a heparin injection for Hailie.

05/02/2026

Hailie has been little unwell and needs some extra hydration. Right now she’s being monitored for low blood pressure, something most people never think twice about - but for children like Hailie, it can be serious and with consequences as it raises stroke risk.

18/01/2026

Avatar 3 didn’t disappoint- absolutely incredible!

01/01/2026

Happy New Year from our family to yours🫶
May this year be gentle, kind and filled with good health.

25/12/2025

Happy holidays everyone!