Rare Disease Day is an annual event held on the last day of February to raise awareness for rare diseases and to help those people who are living with one of those diseases. This international campaign, started in 2008 by the European Organization for Rare Diseases (EURORDIS) illustrates the necessity to increase the knowledge on the insufficient medical research, the necessities in healthcare policies and the importance to develop policy measures to support patients and their families.
The 2025 theme, More Than You Can Imagine, emphasizes the unseen challenges faced by patients and their families, as well as the research enabling scientists to push limits beyond our imagination. The theme this year calls on us to realise that rare diseases are more than just the numbers.
The Importance of Rare Disease Day
Every voice matters and Rare Disease Day uses its platform to shine a light on patients, caregivers and advocates alike. It calls on policymakers, researchers and healthcare professionals to place a greater emphasis on rare disease research, equitable access to healthcare and the establishment of patient support groups.
The day serves to combat misinformation, strengthen advocacy efforts, and promote global solidarity in combating the specific challenges of those living with rare diseases, all of which help raise awareness.
What are Rare Diseases?
Rare diseases, also called orphan diseases, are defined as a disease that affects a small percentage of the population. Rare diseases are, individually, rare but collectively affect more than 300 million people around the world. To be considered very rare, in many countries a disease harms less than 1 in 2,000 individuals.
Some examples of rare diseases include:Â Â Â Â Â Â Â
- Huntington’s Disease: A progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability.
- Ehlers-Danlos Syndrome: A group of disorders involving connective tissue, characterized by hypermobility and delicate skin
- Gaucher Disease: A type of metabolic disorder where harmful materials build up in organs and bones
Some occur due to genetic factors, while others are due to infections, environmental exposures, or autoimmune disorders. Some present early in life and others develop later in adulthood.
The Challenges Faced by Patients and Families
The theme “More Than You Can Imagine” is a powerful reminder of the complex challenges faced by those living with rare diseases. Here are some of those challenges:
- Incorrect or Delayed Diagnosis: Due to lack of medical awareness and expertise, many patients live for years with uncertainty of their condition and remain undiagnosed.
- Limited treatment options: The majority of rare diseases are either not curable or the existing treatment is costly and difficult to be accessed.
- Emotional and Financial Burden: The families of patients are under enormous stress with expenses for medical treatment, taking care of the patient and mental health problems of themselves.
- Awareness and Research: Rare conditions have very limited commercial interest so they attract much lower research funding than commoner conditions.
At TX Hospitals, one of the top hospitals in Hyderabad is dedicated to offering excellent medical care, innovative diagnostics, and compassionate assistance to all patients, particularly those with rare diseases. Let us work together to raise awareness and improve healthcare for those who need it the most.
Advances in Rare Disease Research and Treatment
However, due to recent scientific breakthroughs this has become hopeful and a progress:
- Gene Therapy: Involves targeting genetic mutations that are the root causes of rare disorders.
- Precision Medicine: Treatment delivered based on genetic predispositions of the patient, Targets the effective dose of delivery.
- Artificial Intelligence in Diagnostics: AI is facilitating early diagnosis and assisting in accurate recognition of unusual diseases.
These developments further highlight the fact that dedication to innovation can change the way we live our lives, unleash our imagination and excel at the things we do.
How Can We Support Rare Disease Awareness?
Despite these challenges, change is possible with work. Here’s how we can contribute:
- Increasing Awareness: Raising public awareness of rare diseases is essential to developing understanding and empathy.
- Promoting Medical Research: Funding research is crucial in developing improved treatments or even a cure. Collaboration with organizations in rare disease can push the medicine forward.
- Policy Advocacy: Advocate for improved healthcare policies, funding and access to life-saving treatments.
- Patients and Families: Donate, Volunteer, Provide Emotional Support to make the difference.
Call to Action
Rare Disease Day is not only a day of recognition, but also a movement – a call for action. We can make the world a better place for rare disease patients by creating awareness, supporting better healthcare, and advocating for rare disease patients.
At TX Hospitals, one of the best multispecialty hospitals in Hyderabad, we stand for hope, research, and compassionate care. If you know anyone living with a rare disease, take a moment to express your support, compassion, and solidarity.
Together, we can help change lives for millions globally. Because no one should fight their battle alone.
