Every February 28th/29th, we celebrate Rare Disease Day to raise awareness about conditions that affect fewer than 1 in 2,000 individuals. As a paediatric rheumatologist (treating children with joint, connective tissue, and immune system diseases), I want families to know that early suspicion and referral can change this journey.
How rare are these diseases?
Rare diseases are individually uncommon, but together they affect many. Global estimates place rare diseases at about 3.5 to 5.9% of the world’s population, 300 million people, and most are genetic with onset in childhood.
In India, estimates suggest ~70 million people may be living with rare diseases, though national data is still evolving. With wider access and lower cost of genetic testing and specialised care, more children are being diagnosed earlier.
What are ‘rare diseases?
Think of our immune system as soldiers on a war front—protecting us from germs and injury. In some rare diseases, this guard gets confused and starts attacking our own body. This is “autoimmunity”: our immune system gone rogue. It can affect joints (pain/swelling), skin (rashes), muscles (weakness), blood vessels (reduced blood flow), and organs like the heart, kidneys, liver, and eyes.
Common rare diseases seen in Rheumatology
And remember: Rheumatology is not ONLY ARTHRITIS!! Some important conditions include:
• Lupus (JSLE): Butterfly-shaped rash, tiredness, sore joints, and sometimes kidney/lung problems (about 1 in 100,000 children).
• Juvenile Dermatomyositis (JDM): Muscle weakness with purple eyelids; climbing stairs, standing from a toilet seat, squatting, rolling in bed, lifting arms, or swallowing can become difficult.
• Vasculitis: Inflamed blood vessels that can block blood flow and harm organs such as the heart, lungs, eyes, or kidneys if not caught early.
• Autoinflammatory diseases: Recurrent high fevers, rashes, abdominal pain, oral ulcers, convulsions, and multi-organ involvement—often starting in early childhood.
Other rare immune conditions may be connective-tissue or interferon-driven and can present with fevers, rashes, lung disease, strokes, and growth failure.
Why do these diseases happen?
Here’s the honest answer: we don’t fully know. Research is ongoing, but we do know:
• Genes matter: Some families carry genes that increase risk.
• Infections/trauma can trigger: A “simple” illness can switch on a sleeping problem.
• Environment plays a role: Sun exposure, stress, and some medicines can trigger flares in children already at risk.
Most importantly: this is NOT anyone’s fault.
How do we spot them?
The names can be complicated, but the patterns are often consistent: repeated inflammation (fever/rash/organ involvement), unexplained symptoms, difficult-to-treat episodes, failure to thrive, or similar symptoms in relatives. Persistent or repeated patterns should raise suspicion.
Watch for:
• Fever lasting more than 2 weeks without a clear cause, or repeated fevers
• Joint swelling or morning stiffness that doesn’t settle
• Unexplained rashes (especially butterfly-shaped on cheeks)
• Muscle weakness (can’t climb stairs, trouble lifting arms)
• Extreme tiredness that doesn’t improve with rest
• Prolonged red eye or vision complaints
• Puffiness around the eyes or swelling, or trouble swallowing
How much will the child suffer?
Pain may be inevitable, but suffering is shaped by delay, dismissal, and fragmented care. Suffering reduces when families are heard early and supported consistently.
Will this get cured?
Autoimmune diseases are controllable but NOT CURABLE.The good news: treatment has advanced far beyond “only steroids.”
Today we use medicines that calm the immune system, and biologic drugs that target specific immune pathways (like turning down a volume knob instead of smashing the radio). Rehabilitation, nutrition, and mental health support also matter. With proper care, many children achieve remission or long periods of stability.
What can be role as parent/caretaker?
If your child is affected: seek a paediatric rheumatologist, learn the condition, keep follow-ups regular, and connect with support groups—you’re not alone. If you want to help others: share information (#RareDiseaseDay), support research, and listen to families without judgement.
What the government and health systems can do (and families should know)?
India’s National Policy for Rare Diseases (2021) supports diagnosis and care through designated centres.
Updates include inclusion of 63 rare diseases under the framework and financial support up to ₹50 lakhs per patient for treatment at notified Centres of Excellence, alongside work on orphan drugs, school/disability support, and stronger registries.2026 budget has been encouraging. Budget has been increased for diagnosis and treatment of these diseases has been emphasized
Myths vs Facts
Myth: “If tests are normal, nothing is wrong.” Fact: Many rare diseases need targeted tests and pattern-based diagnosis.
Myth: “Rare means untreatable.” Fact: Many conditions are treatable, and almost all benefit from supportive care.
Myth: “It is only joint pain.” Fact: Rheumatology diseases can affect skin, eyes, lungs, kidneys, blood vessels, and brain.
THE BOTTOM LINE
Rare diseases in children are real, serious, and often missed. But care is not! With early detection, modern medicine, and community support, kids can thrive. Together, we can make sure no child suffers in silence.
Disclaimer: The views expressed in this article are of the author and not of Health Dialogues. The Editorial/Content team of Health Dialogues has not contributed to the writing/editing/packaging of this article.