Rare Disease Day shines a light on the everyday realities of people living with rare conditions—including the long search for answers, the impact of delayed diagnosis, and the importance of access to specialised care and effective treatments.
In this interview, Manfred shares his experience living with familial chylomicronaemia syndrome (FCS), a rare genetic disorder that causes extremely high triglyceride levels and can lead to repeated, painful pancreatitis attacks. Looking back over decades of living with the condition, Manfred describes his journey in phases—from years of hospitalisations and uncertainty, to finally receiving a confirmed diagnosis, and eventually gaining access to a treatment that changed his daily life. His story highlights both the challenges many rare disease patients face and the progress that becomes possible when diagnosis, specialist care, and new therapies come together.
Can you tell us a little about your condition and what living with it looks like day to day?
I usually describe my journey in three phases.
The first phase lasted from 1977 to 2015. During that time, my life was marked by recurring severe pancreatic attacks, usually two or three every year. They were extremely painful and often meant hospital stays. I followed a very strict diet and tried many medications, but my triglyceride levels remained extremely high, around 4000 mg/dl.
The second phase began in 2015, when I was finally diagnosed with familial chylomicronaemia syndrome through molecular genetic testing. Until then, doctors had tried to help, but the diagnosis was only something general like hyperlipidaemia, without knowing the exact cause. After the diagnosis, my diet and medications were adjusted. The attacks became less frequent and less severe, and I no longer needed hospital stays, although my triglyceride levels were still between about 800 and over 1000 mg/dl.
The third phase started in 2020. That’s when I began a new treatment, an injection I give myself every two weeks. I still follow a diet, but I haven’t had a pancreatic attack since then. My triglyceride levels are now between 160 and 300 mg/dl. The biggest change is that the constant fear of the next attack is gone.
For me, the hardest part of the journey was getting the right diagnosis.
How would you describe your access to care during that time?
After many years of repeated pancreatic attacks, I realised that managing this condition would only be possible by working closely with doctors and dietitians. In a way, it became a long-term project that we had to solve together step by step.
I have also been fortunate to live in Austria, where the healthcare system offers strong support. My place of residence, insurance, or cost never prevented me from receiving care. Since 2020, I’ve been able to access a newer medication that has significantly improved my condition. Looking ahead, newer treatments may make things even easier, for example with injections needed less often.
I am very aware that access to the right diagnosis and treatment can make a huge difference for people living with rare diseases.
What kinds of support were most meaningful to you, and why?
I was lucky to be treated at a specialised centre, the Vienna General Hospital. When medications and diet alone were not working well enough, doctors there initiated molecular genetic testing, which finally confirmed my condition.
Having experienced specialists involved made a big difference in understanding the disease and finding the right treatment approach.
What would you want other patients to know from your experience?
If you are newly diagnosed or still searching for answers, my advice is to visit a specialised lipid clinic and find a doctor you trust. And if someone tells you that nothing can be done or that you simply need to eat less fat, don’t hesitate to seek another opinion.
FCS can be caused by different genetic mutations, and choosing the right treatment is not always straightforward. That’s why it’s important to work with specialists who have experience with the condition.
You are not alone, and with the right expertise and persistence, it is possible to find better ways to manage the disease.
Do you have a message to policy and decision-makers?
What I would like decision-makers to understand is that getting the right diagnosis should not take decades. In my case, it took 38 years. Of course, when my symptoms started in 1977, the diagnostic tools available today did not yet exist. But now we have the knowledge and technology.
Genetic testing should not depend on financial barriers. When you compare the cost of testing with repeated hospital stays for pancreatitis, earlier diagnosis and targeted treatment make sense, both for patients and for healthcare systems.
For people living with rare diseases, faster diagnosis and access to specialised care can completely change the course of their lives.
Turning loss into action for Familial Hypercholesterolaemia in France
Véronique Lemaître did not set out to become an advocate. She became one because she understood—through painful personal experience—what happens when familial hypercholesterolaemia (FH) is not diagnosed and treated in time.
A mother first and foremost, Véronique encountered FH within her own family. Cholesterol disorders were known, but poorly understood, inconsistently managed, and too often minimised. Like many families at the time, hers lived with unanswered questions and mixed medical advice.
The sudden loss of her son Baptiste, a second-year medical student who died from a heart attack at a young age, marked a turning point. This preventable tragedy transformed Véronique’s grief into determination: no other family should have to live through what hers had endured.
Building a voice for patients in France
In 2013, Véronique set out to create ANHET.f — the French national patient association dedicated to familial hypercholesterolaemia (FH), and now also elevated lipoprotein (a) Lp(a).
From its earliest days, she worked to structure and develop the organisation, connect patients and families, and engage healthcare professionals. Véronique understood that awareness alone was not enough—systematic screening, early diagnosis, and access to treatment had to become priorities.
Bringing FH to the European stage
Véronique’s commitment quickly extended beyond France.
In 2015, she participated in a call to action at the European Parliament in Brussels, helping to bring FH into European health policy discussions. Her contribution, rooted in lived experience, reinforced a simple but powerful message: FH is a European public-health issue that requires coordinated action.
Listen to Véronique’s call for collective action across Europe to make early screening, awareness, and access to treatment a reality—and to save young people’s lives.
Paris 2018: patients’ stories at the centre
At the FH Europe Annual Network Meeting in Paris in 2018, Véronique once again ensured that patient voices were heard.
She supported the creation and dissemination of ANHET.f’s awareness video—later shared across Europe—designed to make FH visible, understandable, and urgent. The video reflected her conviction, and that of the community she helped build, that early diagnosis saves lives and that real stories can drive real change.
Please listen to Véronique’s message about her son Baptiste—an important reminder for young people not to be misled by this invisible disorder.
Despite language barriers, Véronique worked closely with the FH Europe Foundation, contributing to cross-border collaboration, shared advocacy efforts, and awareness campaigns. She believed deeply in collective action and in the strength of the European FH community.
Photo of Veronique from IWD Awareness Campaign, 2023
Passing the torch, staying engaged
In 2020–2021 (to be confirmed), Véronique chose to hand over the leadership of ANHET.f, becoming Vice-President while supporting a new generation of leaders. It was a thoughtful and generous transition, ensuring continuity for the association she had helped build, while remaining closely involved.
That same spirit guided her decision in 2021, when invited to participate in a high-level technical meeting under the Slovenian Presidency of the Council of the EU. Rather than speaking herself, Véronique proposed that her daughter Charlotte take the floor—giving voice to the next generation and reminding policymakers of the very real human stakes behind FH policies.
Véronique remained a committed, influential, and trusted voice within FH Europe Foundation and had recently been invited to contribute to a new advisory project. Sadly, health complications prevented her from participating
A sudden and unexpected loss
In January 2026, Véronique underwent surgery and appeared to be on the path to recovery. Tragically, only days later, she passed away suddenly, at the age of 64.
Her death came as a profound shock to her family, to ANHET.f, and to the wider FH community across Europe.
A legacy that endures
Véronique Lemaître is remembered as a determined advocate, but also as a woman of generosity, warmth, and deep humanity. Through her work, awareness has grown, screening has advanced, and lives are being protected.
At FH Europe Foundation, we honour her memory by continuing the work she cared about so deeply—ensuring that no family is left unaware, unsupported, or unheard.
As we look back on 2025, we’re proud to share an overview of the significant milestones that shaped the year for our community. This year brought important progress across our core conditions: heterozygous familial hypercholesterolaemia (HeFH), homozygous familial hypercholesterolaemia (HoFH), elevated Lp(a), and familial chylomicronaemia syndrome (FCS).
We’ve compiled a document that tracks the major regulatory updates, clinical trial results, events, and community projects from the past year. It’s designed to provide patients, caregivers, and healthcare professionals with a clear picture of the advances that are moving the field forward. Importantly, the document has been reviewed by leading experts to ensure accuracy and relevance.
What’s Inside
This document highlights the collective efforts of researchers, clinicians, patient advocates, and the broader community that continue to improve outcomes for individuals affected by these conditions.
We invite you to explore the full 2025 milestones document.
📄 Download the 2025 Milestones Document
(This document contains some links directing to external content created by pharmaceutical companies and sharing it does not imply endorsement of any product, treatment, or organisation.)
Prepared by
Dr. Marina Leroy,
FH Europe Foundation Scientific Communications Manager
The FH Europe Foundation is delighted to welcome FH Australia as the newest member of our international network of patient organisations dedicated to improving the lives of individuals and families affected by inherited lipid conditions HeFH, HoFH, elevated lipoprotein(a) and FCS.
FH Australia brings extraordinary strength to the global movement: a lived experience–led, patient-centred organisation deeply embedded within Australia’s national research, clinical leadership, and advocacy landscape. Their commitment to shifting the dial on familial hypercholesterolaemia (FH) and elevated Lp(a) awareness, diagnosis, and access to care strongly aligns with the values and mission of FH Europe Foundation.experience–ledcentred organisation deeply embedded within Australia’s national research, clinical leadership, and advocacy landscape. Their commitment to shifting the dial on FH and Lp(a) awareness, diagnosis, and access to care strongly aligns with the values and mission of FH Europe Foundation.
FH Australia expressed a clear and compelling motivation for joining the FH Europe Foundation network:
As a relatively young organisation, they note that they are now “sufficiently mature to enter into this relationship equitably,” reflecting their readiness to engage, contribute, and benefit from the shared expertise within our network.
Although FH Australia operates outside the geographical scope of Europe, their ethos mirrors our own. They resonate with the spirit of our message “one voice” — not in a geographical sense but in the strength of unified, evidence-based patient advocacy.based patient advocacy
Their mission to elevate awareness, support, education, and early detection perfectly aligns with FHEF’s overarching goals. Together, we recognise that collaboration across borders accelerates progress for all.
FH Australia will contribute to the shared international mission by:
They also look forward to having their Ambassadors take part in the Patient Ambassador Education Programme, enriching both the programme and their local community.
By joining the FHEF Network, FH Australia seeks:
These opportunities will help them amplify their efforts across Australia—a unique environment where vast geography, resource limitations, and uneven awareness pose challenges to reaching undiagnosed families.
Seeing this as a meaningful, global impact and we are honoured to welcome FH Australia into the FH Europe Foundation Network. Their passion, expertise, and lived experience enrich our collective mission and expand our global reach. Together, we stand stronger in advocating for early detection, equitable diagnosis, and improved treatment access for people living with FH and elevated Lp(a), no matter where they live.
Welcome, FH Australia—we look forward to shaping the future of patient support and FH advocacy, together.
Prepared by
Elsie (Cindy) Evans,
FH Europe Foundation Ambassador Programme Manager