Rare Disease Day 2025: Navigating The Reality Of Living With A Rare Disease

Imagine if you could have the superpower of never feeling any pain whatsoever. Sounds exciting, right?

In reality, it's far from a gift. This rare condition, called Congenital Insensitivity to Pain with Anhidrosis (CIPA), prevents individuals from feeling pain, making them highly vulnerable to injuries, infections, and unnoticed internal bleeding. Pain, as unpleasant as it is, serves as our body's alarm system, without which survival becomes a challenge.  

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Like CIPA, many rare diseases exist in the world, with more than 6,000 identified so far. The 

World Health Organization (WHO) defines a ‘rare disease’ as “an often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population”. 

However, while each rare disease may affect only a small group of people, their collective impact is massive. Today, 300 million people worldwide live with a rare disease, yet an alarming 95% of them have no approved treatments. This leads to delayed diagnoses, misdiagnoses, and scarcity of treatment options, leaving patients and families in the dark. 

In light of these challenges, the need to raise awareness for rare diseases and the needs of people who live with them arises. Hence, the European Organisation for Rare Diseases (EURORDIS) established Rare Disease Day in 2008 – a community-driven approach to advocate for better treatments, diagnosis, and social support.

Also Read: Crowdfunding: A Lifeline For Rare Disease Treatment

Why Celebrate Rare Disease Day?

Observed on February 28th (or 29th in leap years, the rarest day of the year), Rare Disease Day is an opportunity to advocate for rare diseases as a human rights priority at the local, national and international levels. This day aims to raise awareness, highlight the unmet needs of people living with rare diseases, and encourage research and policy changes to bring real change. 

Globally, this awareness is spread with the colours for Rare Disease Day displayed in large swaths – green, blue, purple and pink, symbolizing the diversity of rare diseases. Various campaigns, such as #ShowYourStripe, which encourages people to wear striped clothing during marches, and #LightUpForRare, which invites communities to light up buildings and monuments, form a significant part of Rare Disease Day activities to raise awareness for patients.

In India alone, rare disease statistics show that 72 to 96 million Indians are battling rare diseases, out of which 80% are children. Support for these rare disease patients and survivors begins with understanding the core of rare diseases, which is still unknown to many. Beyond the first page of Google search results, let’s take a step toward learning more about rare diseases.

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Presenting Some Fascinating Rare Diseases That Became A Marvel

We might’ve seen many ‘bizarre’ or ‘wild’ medical cases in hospital dramas like Grey’s Anatomy or House MD that might seem exaggerated. But most of the time, these fascinating plot points are surprisingly inspired by real-life cases.

Let’s explore some of the most intriguing yet challenging rare diseases:

1. Superior Canal Dehiscence Syndrome (SCDS)

What would it be like to hear the inside of your own body 24/7? This is the lived reality for SCDS patients, who reported hearing their own heartbeat, stomach noises, and even their eyeballs move, causing extreme distress. It can be extremely hard to diagnose and is often misdiagnosed due to its overlap with other conditions. 

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2. Auto-Brewery Syndrome (ABS) 

As the name suggests, Auto-Brewery Syndrome is a fascinating phenomenon in which the body can endogenously produce alcohol, essentially ‘brewing’ alcohol within the bloodstream! This is caused by the fermentation of carbohydrates by gut fungi, producing a sensation of feeling intoxicated 24/7 without consuming any alcohol and causing symptoms identical to alcohol poisoning. 

3. Alice in Wonderland Syndrome (AIWS)

Named after Lewis Carroll's book ‘Alice's Adventures in Wonderland’, Alice in Wonderland syndrome is a rare neurological condition that distorts how you perceive your body and the world around you, making objects appear larger or smaller. Caused by migraines, epilepsy or head trauma, it can also affect the patient’s perception of time, making it seem slowed down or sped up. While this syndrome has no cure, its underlying symptoms can be treated.

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4. Fibrodysplasia Ossificans Progressiva (FOP)

With a prevalence of 1 in 2 million people, Fibrodysplasia Ossificans Progressiva or ‘Stone-man Syndrome’ is known to be one of the rarest diseases. It is a genetic disorder that causes muscles and connective tissues to gradually transform into bone, making a patient increasingly immobile. While there is no cure for FOP, high-dose corticosteroids can reduce symptoms during flare-ups.

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5. Mermaid Syndrome 

Also known as Sirenomelia, mermaid syndrome is a rare congenital disorder that causes partial or complete fusion of the lower limbs, giving the illusion of a mermaid. This syndrome can be extremely fatal for a newborn and can be detected as early as 17 weeks in the womb. Today, only 14 cases have been reported so far in India.

Source: ImpactGuru

Also Read: Born A Mermaid In The Human World, Hammad’s Rare Condition Got Your Love

These rare conditions, while fascinating to hear, are a living reality for many today. Aside from the conditions mentioned above, many rare diseases like Spinal Muscular Atrophy (SMA) or Duchenne Muscular Dystrophy (DMD), spina bifida, and many other rare types of cancer are prevalent around the world today, with expensive treatments that are hard to afford.

Challenges Faced By Rare Disease Patients

For a patient living with a rare disease, challenges begin from the onset of the disease itself. Even before getting diagnosed, patients face the uneasy feeling of having something ‘wrong’ with their bodies, but no one is able to understand why. From endless tests and consultations, to constantly getting misunderstood and even misdiagnosed, they face a difficult path.

1. Lack of Awareness and Information: Many rare diseases remain understudied and underdiagnosed, meaning doctors and healthcare providers may not recognize them early. This results in years of uncertainty and frustration for patients.  

2. Misdiagnosis: Owing to the broad diversity of disorders and common symptoms that can hide underlying rare diseases, initial misdiagnosis is common. In addition, symptoms differ not only from disease to disease but also from patient to patient suffering from the same disease.

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3. Inaccessible Treatments: Even if a diagnosis is reached, treatment options are often expensive and inaccessible. With rare disease medications being patented and produced by limited pharmaceutical companies, most patients cannot afford the care they need.  

Delving into these challenges, it is clear that greater awareness and support are urgently needed to improve rare disease patients’ quality of life. Amidst these struggles, medical crowdfunding platforms like ImpactGuru have proved themselves to be a great ally in a patient’s journey with a sharp focus on rare disease crowdfunding.

ImpactGuru’s Rare Disease Crowdfunding Breakthroughs 

In the National Policy for Rare Diseases, 2021, the Government of India recommended crowdfunding to be the support system for the treatment and management of rare diseases. Following in their footsteps, ImpactGuru has created a significant mark in rare disease crowdfunding as a platform connecting patients in need with supporters worldwide.

In a report presented on Rare Disease Day in 2021, ImpactGuru recorded hosting 1200+ rare disease crowdfunding campaigns in 14 months, with over 12,00,000+ donors. From raising INR 16 crore each for 4 SMA babies to get gene replacement therapy, to raising funds for India’s 7th Mermaid baby, ImpactGuru has been successfully dedicated to helping patients fight rare diseases.

Source: ImpactGuru

If you or a loved one is in need of financial support at any part of the rare disease journey from diagnosis or treatment to recovery, ImpactGuru is here to help you raise funds for a healthier future. Visit our website to learn more!

Also Read: How Monthly Giving Helps Patients Fighting Rare Disease

Rare Causes, Collective Action

In the long run, while rare diseases may remain unique in their symptoms or treatments individually, we remain united in this battle for survival as a community. By offering emotional support to a rare disease patient in their difficult journey, starting a fundraiser for their treatment, or simply engaging in raising awareness, we can all do our part.

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As rare disease treatments advance, so does our hope for the future. This Rare Disease Day, let’s continue to raise our voice for rare disease patients and work towards creating a world where they no longer have to suffer in silence. 

Together, we can unite towards a better and brighter future for all rare disease patients where they can grow, thrive and receive the care and support they need.