Mental Health and Rare Disease: The Hidden Struggle

Today, as we observe World Mental Health Day, we’re reminded that mental wellbeing is just as vital as physical health, especially for those living with rare conditions. For individuals with Familial Chylomicronaemia Syndrome (FCS) and Homozygous Familial Hypercholesterolaemia (HoFH), the challenges go far beyond clinical symptoms. The emotional toll of isolation, anxiety, and being misunderstood can be overwhelming.

At FH Europe Foundation (FHEF), we recognise that people living with inherited lipid conditions often face additional emotional and psychological challenges. The unpredictability of symptoms, restricted lifestyles, and frequent misunderstandings in healthcare settings can lead to loneliness and frustration. Especially in times of crisis, maintaining continuity of care and ensuring access to mental health support are essential.

That’s why we continue to actively engage with key European initiatives, such as the EURORDIS Mental Health & Wellbeing Toolkit, to better understand and address the mental health needs of our community.

EURORDIS Mental Health Toolkit: Supporting the Whole Person

The Mental Health & Wellbeing Toolkit developed by EURORDIS – Rare Diseases Europe is a comprehensive, evidence-informed resource designed to help people living with rare and undiagnosed conditions take practical steps toward better emotional wellbeing. It brings together neutral, accessible, and empowering tools co-created with patients, psychologists, and mental health professionals. 

The toolkit offers: 

• Strategies to cope with social isolation, anxiety, and stigma 

• Tools for managing sleep issues, chronic pain, and emotional exhaustion 

• Practical exercises for self-care, empowerment, and resilience-building 

• Advice for caregivers and families supporting someone with a rare condition 

• Guidance on communication, advocacy, and peer support networks 

More than just a collection of resources, the toolkit represents a shift toward holistic care, recognizing that mental wellbeing is inseparable from overall health and quality of life. It empowers individuals to take small, meaningful actions that foster control, connection, and hope in their daily lives. 

The Role of Our Patient Ambassadors

Our FH Europe Patient Ambassadors, Patsy Petrie and Elsie Evans, have played a vital role in amplifying the voice of the rare lipid community within the EURORDIS initiative. By participating in virtual meetings and contributing their lived experiences, they ensure that the toolkit reflects the unique psychosocial realities of those living with FCS, HoFH, and other rare lipid disorders. 

They also help to bridge the gap between clinical care and emotional wellbeing, encouraging peers to explore the toolkit, test its tools, and share honest feedback. Their involvement helps shape future versions of the resource to make it even more relevant and accessible to the lipid disorder community. 

Through their stories and advocacy, our Ambassadors remind us that while medical management is crucial, empathy, understanding, and emotional support are equally essential in improving patients’ overall wellbeing. 

Voices from Our Community 

Living with a rare disease is often an invisible struggle. Behind every diagnosis lies a personal story of resilience and quiet strength—but also moments of fear, isolation, and emotional fatigue. Members of our community have shared some of their reflections: 

• FCS: Navigating Life with Constant Vigilance
  Patient living with FCS (name withheld for privacy) 
  "Living with FCS means every meal is a calculation. I’m constantly worried about triggering a pancreatitis episode. But what’s harder is the emotional side—feeling excluded, anxious, and misunderstood. I’ve had to become my own advocate, but it’s draining. Mental health support should be a standard part of rare disease care." 
• Joana’s Story: Growing Up with HoFH
  Joana was diagnosed with HoFH in childhood. Her cholesterol levels were dangerously high, and she began treatment early. But the emotional impact of growing up with a life-threatening condition was profound.
  "I always felt different. While my friends worried about school, I worried about heart attacks. The treatments helped physically, but mentally, I struggled with fear and loneliness. It wasn’t until I connected with others through FH Europe that I felt truly understood. Mental health support gave me the strength to move forward." 

At FH Europe Foundation, we remain committed to supporting not only the physical health but also the emotional and psychological resilience of those affected by inherited lipid disorders. By promoting initiatives like the EURORDIS Mental Health Toolkit, listening to our community, and empowering our Ambassadors, we aim to ensure that mental health care becomes an integral part of rare disease management—not an afterthought. 

Learn more about the EURORDIS Mental Health & Wellbeing Toolkit here: https://mhtoolkit.eurordis.org