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nuremberg, Germany (Feb. 20, 2025) — In germany, an estimated four million individuals live with the daily burden of a rare disease, according to the Federal Ministry of health.For many suffering from chronic blood disorders like paroxysmal nocturnal hemoglobinuria (PNH) or kidney diseases such as C3 glomerulopathy (C3G), a pervasive symptom considerably impacts their lives: debilitating fatigue.
This fatigue, often described as an overwhelming exhaustion unrelated to physical or mental exertion, is a common thread among those with rare diseases, autoimmune disorders, and cancer.The prevalence is striking: approximately 80% of PNH patients and about 90% of those with C3G experience this relentless fatigue. This isn’t simply tiredness; it’s a profound exhaustion that transcends typical fatigue. “It becomes a constant companion and affects all areas of life,” explains one source. Unlike normal fatigue, rest and sleep offer no relief.
The impact extends beyond physical limitations,encompassing cognitive impairments such as difficulty concentrating and reduced attention. The pervasive nature of this fatigue extends to social interactions,frequently enough leading to isolation and a diminished quality of life. While no medication specifically targets fatigue, treatments for the underlying diseases may offer some improvement. Furthermore, proactive strategies, including targeted behaviors and activities, can help manage the symptoms.
Among other things, those affected report that they feel too tired to eat and, due to permanent fatigue, have difficulty starting or ending activities.Lafayette R, et al. Nephrol. Dial.Transplant. 2024;39(1):gfae069-1313-2632.
Novartis has launched an animated video to raise awareness of this often-invisible struggle. The video, featuring a fictional character named Nina with PNH, personifies fatigue, highlighting its impact on daily life, work, leisure, and relationships. The video also provides helpful tips and resources for coping with chronic fatigue.
For more information and support, patients and their families can visit www.leben-mit-blutesseiten.de and www.seltene-nierenstände.de.
Opening Statement
In Germany, a staggering four million individuals navigate life amidst the persistent challenge of rare diseases—a journey frequently enough marked by debilitating fatigue. but what lies beneath this invisible struggle, and how can those affected reclaim some semblance of normalcy?
Interview with Dr. Emma Schneider, Rare Diseases and Fatigue Specialist
Senior Editor: Dr. Schneider, it’s a pleasure to have you with us today.The invisible battle against debilitating fatigue among rare disease sufferers is startling. Can you shed light on why this exhaustion is so profound and pervasive for these individuals?
Dr. Emma Schneider:
Absolutely. Fatigue among those affected by rare diseases such as paroxysmal nocturnal hemoglobinuria (PNH) and C3 glomerulopathy (C3G) transcends typical tiredness. It’s an overwhelming exhaustion that doesn’t respond to rest or sleep, making it a relentless presence in their daily lives. This profound fatigue impacts nearly every aspect, from physical capabilities to cognitive function, often leading to social isolation and diminished quality of life.
Senior editor: Given that around 80% to 90% of patients with conditions like PNH and C3G are affected, what are the underlying mechanisms causing such severe fatigue?
Dr. Emma Schneider:
Research suggests that the mechanisms of fatigue in these diseases are complex and multifactorial. In conditions like PNH, the constant destruction of red blood cells leads to hemolytic anemia, contributing to a persistent oxygen deficit in tissues. In C3G,renal inflammation and failure culminate in a buildup of toxins,exacerbating fatigue. Additionally, immune dysregulation and inflammatory processes are thought to play important roles. The brain regions associated with energy and motivation can also be affected, compounding the cognitive impact.
Senior Editor: You mentioned the cognitive impairments associated with this fatigue. Could you elaborate on how these impact daily activities and mental health?
Dr. Emma Schneider:
Certainly. Patients often report difficulty concentrating, reduced attention span, and memory issues. This isn’t just about feeling tired; it’s about the brain’s ability to process data and maintain focus being significantly impaired. These cognitive challenges can lead to a vicious cycle where even simple tasks feel insurmountable,thus reinforcing feelings of hopelessness and anxiety. The resultant social withdrawal furthers the mental health toll, as isolation can exacerbate symptoms of depression.
Senior Editor: With no specific medication targeting this fatigue, how can those affected manage their symptoms?
dr. Emma Schneider:
management strategies are multifaceted. While addressing the underlying disease can offer some relief, targeted behavioral strategies are critical. Physical therapy and tailored exercise programs can build energy reserves and improve stamina. Psychological support, including cognitive-behavioral therapy (CBT), can help patients develop coping mechanisms and improve mental resilience. Nutrition also plays a role—ensuring a balanced diet can help in sustaining energy levels. Moreover, pacing oneself and prioritizing tasks according to energy levels can prevent overexertion.
Senior editor: Novartis has made efforts to raise awareness of this condition through an animated video. How important is awareness-raising in combating the impact of this invisible fatigue?
Dr.Emma Schneider:
Awareness is crucial. By depicting the daily reality of someone like nina, a fictional PNH patient, Novartis highlights the multifaceted impact of chronic fatigue. Such initiatives can foster greater understanding among the public and healthcare providers, improving empathy and support for those affected. Awareness also drives research funding and policy changes, possibly leading to new treatments and improved management strategies.
Key Takeaways:
- understand the multifactorial causes of prolonged fatigue in rare diseases.
- Implement targeted strategies like exercise, cognitive therapy, and nutritional adjustments.
- Foster awareness through storytelling and advocacy to improve support and understanding.
Senior Editor: what message would you like to leave our readers with, especially those dealing with debilitating fatigue or rare diseases?
Dr. Emma Schneider:
I want to convey hope and empowerment. Though the journey is arduous, resources and support systems are available.Connecting with communities, such as via Leben Mit Blutseiten or seltene Nierenstände, can offer solidarity and shared experiences. Individuals should speak openly about their struggles and seek help when needed—it’s a fundamental step towards reclaiming control over their lives.
Senior Editor: Thank you, Dr. Schneider, for your insightful perspectives. Your expertise provides a much-needed beacon of hope for those silently battling this debilitating fatigue.
We invite our readers to share their thoughts and experiences in the comments section and on social media. Let’s raise awareness together about this often-invisible struggle and support those affected in reclaiming their lives.