VASCERN News
02 March 2026
ERN transition workshop defines European rare disease standards
On Rare Disease Day 2026, six patients and caregivers from the VASCERN European Patient Advocacy Group share their personal experiences caring for or living with rare vascular diseases. In partnership with JARDIN, these stories highlight the diagnostic challenges, the importance of expert care, and the power of patient advocacy in improving outcomes for rare disease patients across Europe.
What rare disease day means to our community
Rare Disease Day happens every year on the last day of February. It’s when patients, families, and advocates share their experiences to raise awareness and push for better care.
This year, six people from our VASCERN community decided to tell their stories. They talk about the years it took to get diagnosed, the weight of telling a loved one about their condition, and what it’s like to turn personal loss into advocacy.
In partnership with JARDIN, we’re sharing their experiences with Marfan syndrome, CADASIL, Hereditary haemorrhagic telangiectasia (HHT), Vascular Ehlers Danlos syndrome (vEDS), primary lymphoedema, and infantile hemangioma. Each story is different, but they all show why European collaboration on rare vascular diseases matters.
The patient stories
Living with CADASIL: Elisabeth’s Story
“I felt like I was holding a secret about my husband: I knew something about him that he didn’t know.”
In 2006, Elisabeth looked up CADASIL on Orphanet after a family member mentioned it. The title at the time was “CADASIL: Dementia.” She read the article and realised her husband had it too. But how do you tell someone they have a lifelong neurological condition?
“There is no good way to talk about this, and it was not easy,” she says.
Today, Elisabeth is a VASCERN patient representative. She describes her partnership with her husband like this: “We are like a small train with a locomotive and a wagon. I am the locomotive and he is the wagon, and we continue hiking, cycling, skiing, and looking after our grandchildren.”
Hereditary Haemorrhagic Telangiectasia Awareness: Dara’s Story
“People are walking around with these ticking time bombs because they don’t know about it.”
Dara comes from a family of bleeders. They just assumed it was a family trait. Nobody mentioned Hereditary Haemorrhagic Telangiectasia (HHT) until it was too late.
She lost her father at age 68 and her son Paul at just 22 years old. After Paul’s death, Dara founded HHT Ireland to make sure other families get the information they desperately need.
With 1 in 5,000 worldwide living with HHT, an estimated 90% go undiagnosed.
Marfan Syndrome Journey: Carmen’s Story
“I became not just a mother, but also a nurse, a researcher, and sometimes a warrior.”
Carmen’s son has Marfan syndrome. Getting to the diagnosis took over three years. When confirmation finally came, there was no clear treatment and little information available. Life changed overnight.
Two years ago, after emergency surgery, her son looked at her and said: “Mum, I’ll take care of myself and my condition, but I won’t live in fear. I’ll fight for my dreams and for my life.”
“He is teaching me what it truly means to live,” Carmen says.
Primary Lymphoedema Patient Experience: Marta’s Story
“My illness is not a limitation—it’s a companion that constantly teaches me to adapt.”
At 35, after a ski trip, Marta noticed swelling in her leg that wouldn’t go away. For years, she searched for answers. Nobody mentioned “primary lymphoedema.”
When she finally saw a specialist, everything changed. The doctor told her: “This disease will accompany you all your life.” That was shocking.
Today, Marta is on the board of Asociación Madrileña de Afectados de Linfedema (AMAL) and works with VASCERN. She still hikes and climbs mountains. “I stopped measuring my success by how fast I could climb and started measuring it by how present I could be in each step.”
Infantile Hemangioma Caregiver Perspective: Caroline’s Story
“My advice to doctors is to listen to caregivers who deal with children with special needs on a daily basis.”
When Caroline’s son Tristan was born with an unusually large infantile hemangioma, bleeding episodes and hospitalisations became constant. For two years, the family lived in crisis mode.
After two years of constant hospital visits and witnessing traumatic procedures, the situation took a serious toll on Caroline’s mental stability. But as infantile hemangiomas eventually regress, Tristan slowly improved.
“After all the bandages, wounds, and blood disappeared, you can now see the final result: a fine young man—just a little afraid of needles.”
Dara founded HEVAS, the Dutch patient organisation for vascular anomalies, and is now an ePAG representative in VASCERN.
Vascular Ehlers-Danlos Syndrome (vEDS) Family Journey; Francesco’s Story
“For me, knowledge is hope and reassurance that things can change and care can improve.”
Francesco had unexplained bruising, spontaneous muscle ruptures, and chronic pain throughout his childhood—symptoms repeatedly dismissed as “typical for children.” At 15, he was hospitalized four times in six months. Doctors struggled to identify the cause.
Eventually, a geneticist recognised the signs. One year later, the diagnosis arrived: vascular Ehlers-Danlos syndrome (vEDS).
Francesco’s mother became an ePAG representative within VASCERN. Francesco is now studying Biotechnology at university, working towards becoming a researcher himself.
Key takeaways from the patient stories
These six stories represent thousands more across Europe living with rare multisystemic vascular diseases. A few things stand out:
- The diagnostic journey takes years
- Access to specialised care makes a difference
- Personal experience often leads to advocacy
- Patient organisations provide crucial support
How VASCERN supports people with rare vascular diseases
VASCERN (European Reference Network on Rare Multisystemic Vascular Diseases) brings together over 100 expert healthcare providers across 19 European countries to improve diagnosis, treatment, and care for patients with rare vascular diseases.
Expert consultation across borders: Through the Clinical Patient Management System (CPMS), doctors across Europe can discuss complex cases and get expert advice. This means patients benefit from collective expertise even if they live far from specialist centres.
Patient advocacy integration: ePAG (European Patient Advocacy Group) representatives like Elisabeth, Francesco’s mother, and Dara work alongside medical professionals. The patient perspective shapes research priorities, clinical guidelines, and care pathways.
Research and clinical trials: VASCERN experts coordinate research studies and clinical trials across Europe. Elisabeth and her husband participate in CADASIL research. Francesco’s mother points to a recent clinical trial showing that angiotensin II receptor blockers reduce arterial events in vEDS patients.
Education and training: VASCERN develops educational resources, hosts webinars, and provides training for healthcare professionals to improve rare disease awareness and diagnostic accuracy.
Patient registries: VASCERN maintains registries that collect pseudonymised patient data, enabling research that improves care and treatment across all member countries.
This Rare Disease Day 2026 campaign is a collaboration between VASCERN and JARDIN Joint Action (Joint Action on Rare Diseases Integration and Innovation). JARDIN works to strengthen rare disease policies, improve patient pathways, and enhance integration between European Reference Networks and national healthcare systems.
Get involved
Share these stories Use #RareDiseaseDay, #RareDiseaseDay2026, and #VASCERN on social media.
Connect with patient organisations
- HHT Ireland
- CADASIL France
- Spanish Marfan Syndrome Organisation
- AMAL – Spanish Lymphoedema Association
- AISED – Italian Ehlers-Danlos Association
- HEVAS – Dutch Vascular Anomalies Association
VASCERN collaborates with several patient organisations. Click here to learn more.
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