Understanding the Challenges of Rare Disease Patients

6.05.2024 // Dr. Rahila Sardar

What is it like to live with a disease that baffles most doctors and can’t be diagnosed? How would you navigate your daily life when your symptoms perplex the medical community? These are the stark realities for millions of people living with rare diseases, who urgently need our attention and understanding.

Although rare diseases are unique, most of its symptoms overlap with those of the common diseases, making detection more complicated. Among the 10,000 rare diseases identified worldwide, 80% are of genetic origin. These rare genetic disorders are lifelong conditions that persist throughout an individual’s life. Their symptoms may not appear initially but can manifest at any time. Individually, these diseases are rare, but collectively, they affect over 400 million people globally. For more than 90% of these diseases, effective treatments are not available, underscoring the urgent need for improved research and development. In this post, we will delve into the multifaceted challenges faced by individuals living with rare diseases and explore the critical need for greater understanding, proper support, and stronger advocacy.

The Odyssey of challenges:

Illness, particularly when it involves a serious or rare disease, acts as an intense, life-changing event that not only affects the individual but also their loved ones, leaving them to grapple with the complexities of the condition. Such diseases increase their vulnerability and disrupt quality of life. People living with rare diseases often endure a lengthy diagnostic journey, face a lack of treatment options, and encounter limited awareness of their conditions. These factors frequently lead to social exclusion, sometimes resulting in a complete absence from societal participation.

In exploring the experiences of rare disease patients, numerous sufferings and challenges were discovered. Examining the evidence from other countries reveals the same harsh reality. Despite their vital roles in various aspects of society, including work, entertainment, and communication, the challenges the rare disease patients encounter are often overlooked. These challenges span psychosocial issues, anxiety, clinical depression, cognitive impairments, strain on relationships, employment hurdles, and emotional instability.

The study conducted by Rezaei F et al. at the School of Nursing and Midwifery, Golestan University of Medical Sciences, Gorgan, Iran, in 2023 identified five main themes related to the experience of living with a rare disease: permanent suffering, feeling like a bird in a cage, rejection, being overwhelmed by constant negative thoughts, and losing the zest for life.

Additionally, ten sub-themes were extracted that further illustrate the challenges faced by patients: experiencing ongoing nightmares, a sense of giving up, deprivation, limitations, feelings of worthlessness, being stigmatized, having a bleak outlook, confusion, continuous regret, and feelings of inferiority. These themes and sub-themes vividly capture the complex emotional and psychological toll of rare diseases on patients.

Along with rare disease patients, their family members, who fervently desire a better life for them, actively seek ways to support their loved ones’ well-being through proper medical management, dietary approaches, and assistive support. The caregiving burden is substantial, involving lifelong challenges and personal sacrifices, often without adequate financial support. Parents frequently become “experts” in their child’s care, experiencing frustration due to healthcare providers’ lack of understanding. To cope, patients and families often connect with communities, sharing experiences and emotional support, developing coping skills, and advocating for better healthcare. These connections provide a sense of empowerment and help alleviate stress, enabling families to manage their challenging circumstances better. Despite the immense challenges, the strength found in community, self-education, and advocacy helps them cope with the suffering caused by rare diseases.

Bridging the Gap: Addressing Global Disparities and Advocating for Change:

Globally, the situation for rare disease patients varies by country. Grassroots organizations and government initiatives play a crucial role in raising awareness and improving access to care. Developed nations such as the US, Europe and Japan have established definitions, registries, and policies to support rare disease patients, including incentives for orphan drug development. International organizations like EURORDIS, NORD, and RDI work to advocate for rare disease patients globally and facilitate collaboration.

However, developing countries, including India, still lack comprehensive policies and infrastructures related to rare disease. Thus, there is a pressing need for increased global collaborations to ensure equal access to care for all the patients with rare diseases.

In India, numerous support groups and NGOs assist those with rare diseases, but patients still face several obstacles including delayed diagnoses, high treatment cost, limited health insurance, and a scarcity of specialized facilities and professionals, all of which are exacerbated by low income and social stigma. In response to these challenges, organizations like IORD and ORDI are actively promoting awareness and advocating for improved policies and support. Additionally, the Indian government has established Centres of Excellence (CoEs) for rare diseases as part of the National Policy for Rare Diseases 2021. These centres, which include leading institutions like AIIMS in New Delhi, focus on comprehensive care that encompasses diagnosis, treatment, and research, and are instrumental in advancing treatment options and early detection for rare diseases.

Furthermore, numerous clinical trials have been conducted and are ongoing, contributing to the development of new treatments for rare diseases. These trials and the CoEs form part of a broader strategy to enhance healthcare infrastructure and capabilities across India to support rare disease patients more effectively.

All these challenges underscore the need for enhanced research to make healthcare workers aware of the needs and experiences of those with rare diseases. Additionally, comprehensive support systems are essential to enable patients to fully engage in their life. It is crucial for healthcare providers, families and society to recognize and uphold the dignity of individuals living with these rare conditions.

Vgenomics is a biotech company with a social mission to alleviate the suffering of more than 175 million children affected by rare diseases. With a team of scientists based in the US and India, it develops novel diagnostics and therapeutics for rare diseases. Through its products and collaborations with healthcare professionals and researchers, Vgenomics is pushing the boundaries of medical science, striving to improve outcomes and elevate the quality of life for those affected by rare disease conditions.

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