“Invisible Illnesses: The Challenges of Living with Rare Diseases”

A rare disease (RD), usually referred to as an orphan disease, is an illness that only affects a small portion of the population.  Rare diseases can be classified in different ways, depending on their underlying causes, clinical presentation, or other factors such as genetic, metabolic, autoimmune, infectious, and undiagnosed.  

Although they are uncommon (less than 1 in 24,000 in Europe, 1 in 1500 in the United States, or 1 in 22,500 in Japan), they can together impact 1 in 15 people globally. Because of this, even if rare diseases are uncommon in any nation, there could be 400 million people worldwide who suffer from them. Even while individual rare diseases are not widespread, they collectively have a large global impact.

Each rare disease only affects a very small percentage of individuals, hence there is frequently little information available about these illnesses and less funding allocated to their study and development. Because of this, it may be difficult for people with uncommon diseases to get a proper diagnosis and access necessary medical care. Patients, their families, society, medical professionals, and healthcare systems all face particular challenges as a result of rare diseases. Over 7,000 uncommon diseases have been discovered worldwide Such as Cystic fibrosis: Huntington’s disease, Pompe disease, Aplastic anemia, Achondroplasi, Crigler-Najjar syndrome, Cushing’s disease, Gaucher disease and many more. Each rare disease is unique, and individuals with rare diseases may experience a wide range of symptoms and complications. Certain rare diseases may arise later in life, but many are hereditary, present from birth or in infancy, and can lead to life-long disability. Several of these illnesses are chronic, fatal, and degenerative. Many rare diseases are challenging to detect because they are uncommon, and patients frequently receive wrong or delayed diagnosis, which increases morbidity and mortality. Moreover, there are sometimes few effective treatments available for uncommon diseases, and many patients might not have access to the necessary treatments or care.

Many rare disease patients are undiagnosed. A supportive policy environment is therefore necessary to foster greater understanding of these diseases and how they impact patients, to stimulate more research, to encourage appropriate disease management and empower patients and their wider communities. Patients, their families, healthcare professionals, and society encounter significant obstacles as a result of rare diseases. In general, the difficulties associated with rare diseases highlight the need for more education, research, and activism to enhance the lives of those who are afflicted by these conditions.

Likewise, the difficulties and barriers that patients with rare diseases, their families, and carers encounter in treating their condition and maintaining a high quality of life are referred to as the challenges of living with rare diseases. These difficulties may include delayed diagnosis, few treatment options, social isolation, mental and emotional health problems, restricted access to care, a lack of resources and support, uncertainty about the future, physical limitations, and the strain of being a caregiver. A person’s life can be affected in a variety of ways by having a rare condition, which can be a complex and stressful experience.

Ensuring that rare diseases are a public health priority is essential to improve the lives of people affected by these conditions. It is crucial to spread knowledge about these difficulties and to back initiatives aimed at enhancing the lives of people with uncommon diseases. Increasing awareness, promoting research, improving access to care, providing patient support and establishing regulatory frameworks are the strategies that can ensure that rare diseases are recognized as a public health priority and that people affected by these conditions receive the support and care they need.

Several organizations and projects have been established to aid those who suffer from rare diseases as well as to raise awareness and comprehension of these conditions. They include the Global Genes Project, the National Organization for Rare Disorders, and the Rare Diseases Clinical Research Network.

Every year on the last day of February, the world observes Rare Disease Day to bring attention to rare diseases and the effects they have on people’s lives. Organizations from all across the world, including patient advocacy groups, medical specialists, and researchers, mark this day.

The purpose of Rare Disease Day is to increase public awareness of the issues that persons with rare diseases experience, including delayed diagnosis, restricted access to care, and social isolation. The day also honors the perseverance and fortitude of people with rare diseases, their families, and caretakers.

The theme for Rare Disease Day 2023 is “Rare is many, rare is strong, rare is proud.” The theme highlights the importance of coming together as a community to support those affected by rare diseases and to advocate for their needs.

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