6 min. read
In the face of rare, and often misunderstood conditions such as Loeys-Dietz syndrome, the resilience of individuals and their families shines brightly. In this post, we share three powerful journeys—each shaped by determination, love, and the fight for a better tomorrow. From a mother advocating for her son to a woman battling life-threatening complications, these stories highlight the incredible courage of those facing the unknown.
A Mother’s Care, a Family’s Strength
A story from a mom bolstering her son’s education
“My 8-year-old son, Louis, lives with this condition every day (clubfoot operated on six times, concave chest, beta-blockers, physiotherapy, etc.). It’s not easy every day because he can be tired, and he has a home health aide in class. Despite everything, he has a steely morale and a will to move forward, a true example of a little fighter. He can’t do all the sports at the same pace as his classmates, and this can take a toll on him mentally.
So, as a mother, I intervened in class to explain his condition, and it was very beneficial for him. It’s a little-known condition, and it saved him from being teased. Children just need the condition explained to them in simple terms, and I was surprised by all the students’ questions.
They even talked to their parents about it. I’m the mother of three children with different disabilities, so don’t give up, even if it’s very exhausting on a daily basis.”
– Christelle
Fighting to Save Two Lives
A story from a courageous mom & aortic dissection survivor
“My journey with this disease began in a brutal way… I didn’t know I was carrying a disease.
On the evening of January 18, 2023, I was 33 weeks and 6 days pregnant when I felt sharp pain between my shoulder blades. We called an ambulance and headed to the hospital. After a blood test, two CT angiograms, and several medications to ease the pain, I received the devastating news: ‘Madam, we need to deliver the baby. Both your lives are in danger. You have an aortic dissection.’
I was in shock…
I was taken to the ICU at 2 a.m. More tests followed — an ultrasound of the baby, an injection to help mature the baby’s lungs, and then preparations for a hospital transfer.
The next day, I was transferred to a hospital specialized in vascular conditions. At 3:14 p.m., my baby was born and sent to another hospital. It was heartbreaking.
I was kept under observation. Six days after the C-section, the pain returned. I underwent emergency surgery, where I was told my chances of survival were very slim…
After that came blood tests at the genetics lab, additional exams, and more.
Six months later, the diagnosis came in: I have Loeys-Dietz syndrome, type 2.
In the meantime, they discovered a thoracoabdominal aortic aneurysm. Open-heart surgery was scheduled for February 9, 2024 — but, unfortunately, I came down with the flu the night before.
I returned to the hospital in emergency on the evening of February 10 due to new pain, and I stayed overnight to undergo surgery on February 11 — again, with a high risk of complications.
The surgery went well. I spent one week in the ICU and another week in the surgical unit.
I thought it was finally over… but no. I was told I had another aneurysm, this time in the ascending aorta. We monitored it, but sadly it grew beyond the critical threshold. On December 11, 2024, I had to undergo another high-risk surgery. Fortunately, things have gone well so far.
In January, I received a letter confirming that my requests to see Dr. Loeys had finally been accepted. I will be meeting him on July 2, 2025, in Antwerp, Belgium.
Amidst all the bad luck, I was lucky in one way: my children, my father, my mother, and my sisters are not carriers of the disease. This disease is difficult to live with, especially because it is so little known — even by the many specialists who treat me for various issues that, in the end, turn out to be symptoms of the disease.”
– Coralie
Moving Forward
A story from a resilient patient, caregiver & advocate
“In June 2022, I suffered a cerebral hemorrhage and a renal aortic dissection. Doctors also discovered an aneurysm in my splenic artery. After comparing the genetic tests of my granddaughter, who died before birth, with my own, they diagnosed me with Loeys-Dietz syndrome.
It was a painful surprise, especially since my eldest daughter is also a carrier of this syndrome. I was overwhelmed by anxiety and fear. The lack of information from the doctors, as well as all the medical examinations I had to undergo, gradually plunged me into a deep depression.
On the geneticist’s advice, my youngest daughter has not yet been tested to determine if she is a carrier of the disease. The recommendation is to leave her alone and allow her to make that decision for herself when she is an adult.
I currently have medical care and regular checkups. I’ve undergone psychological therapy and am trying to resume as normal a life as possible. However, the lack of information and the doctors’ uncertainty still leave me feeling fearful. Every day is a challenge, because I don’t know if I’ll have to go through it all again.
I wish there was more empathy from doctors in Geneva toward people with a rare disease like mine. It would also be important to create a dedicated foundation to encourage exchanges with other people who understand what I’m feeling and who are going through the same ordeal…but being able to communicate with you makes me feel very good.”
Your story matters, please share it
Your voice has the power to inspire and create a ripple effect of awareness. We invite you to share your personal journey with Loeys-Dietz syndrome (LDS) and other related Hereditary Thoracic Aortic Disorders (HTAD). Whether it involves challenges, triumphs, everyday experiences, and even light-hearted moments (like the eternal quest for shoes that actually fit), your story can provide insight and support to others in our community.
By sharing your experience, you contribute to a deeper understanding of the diverse realities of living with LDS and HTAD, fostering a sense of connection and mutual support among individuals and families affected by these conditions.
To access our story submission form, click here: https://loeysdietzcanada.org/share-your-story/