Where diagnosis begins, care continues.

What is a rare disease?

A rare disease is typically defined as one that affects fewer than 1 in 2,000 people. While individually uncommon, collectively, rare diseases affect millions worldwide.

These conditions often involve complex genetic, metabolic or molecular pathways and may present with diverse symptoms across different organ systems.

Why diagnosis can take time

Diagnosing rare diseases is often challenging because:

• Many healthcare providers may never encounter the specific condition
• Symptoms can be non-specific or overlap with more common conditions
• Comprehensive testing may be required across multiple specialties
• Genetic testing may be needed but not always immediately available

ACCORD coordinates rehabilitation, continuing care and family support through this diagnostic journey with expert guidance and coordination. See our guide for patients and families on preparing for consultations.

When specialist evaluation may help

Consider seeking a specialist evaluation if:

• You have a family history of unexplained genetic conditions
• Multiple medical specialists have been unable to provide a clear diagnosis
• Your child has developmental delays or abnormal physical features
• You're experiencing persistent, unexplained symptoms across multiple systems
• Standard tests have not yielded answers after multiple consultations

What to bring to a consultation

To help us understand your situation better, please bring:

• Diagnosis (if available)
• Discharge summaries from previous hospitalisations
• Current prescriptions and medication lists
• Laboratory and imaging reports (including MRIs, CT scans, X-rays)
• Genetic reports (if available)
• Previous specialist opinions or letters
• Family history of similar conditions
• Timeline of symptoms and their progression
• Rehabilitation plans (if applicable)

Diagnostic pathways

Our approach to diagnosis includes:

• Comprehensive clinical evaluation by our multidisciplinary team
• Genetic testing and molecular diagnostics when appropriate
• Metabolic and biochemical assessments
• Neurological and developmental evaluations
• Imaging and functional testing as needed
• Coordination with external laboratories and reference centres

Available at ACCORD | Available through referral | Planned

If you are looking for a diagnosis, start with our rare disease diagnosis pathway. If testing has already been done elsewhere and left you without an answer, see undiagnosed and complex conditions.

Genetics and genomic testing

When appropriate, we offer:

• Targeted gene panel testing
• Whole exome sequencing
• Chromosomal microarray analysis
• Metabolic testing and enzyme assays
• Carrier screening for family members

Genetic counselling is provided to help families understand results and implications. Read more about genetic counselling at ACCORD.

After diagnosis

Once a diagnosis is established, we help families:

• Understand the condition and its implications
• Develop a coordinated care plan across specialists
• Coordinate rehabilitation and supportive services
• Access financial and government assistance resources
• Connect with patient organisations and support groups
• Plan for long-term management and follow-up

Rehabilitation and continuing care

Managing a rare disease requires ongoing support:

• Physiotherapy for mobility and strength
• Occupational therapy for daily living skills
• Speech and swallowing support
• Respiratory rehabilitation
• Assistive device guidance
• Home-care planning and caregiver training
• Psychological and emotional support
• Palliative and supportive care

ACCORD coordinates these services to ensure continuity of care. See our caregiver support guide and rehabilitation services for more on how we help.

Family implications

Rare diseases affect the entire family:

• Emotional and psychological impact on all members
• Financial strain from medical costs and lost income
• Challenges in daily routines and family life
• Impact on education and employment
• Need for long-term planning and support

We provide resources and support to help families navigate these challenges. Explore financial support options and caregiver resources.

Financial / government support resources

Several government and charitable programmes may provide assistance:

• Pradhan Mantri Jan Arogya Yojana (PMJAY)
• National Health Mission (NHM) schemes
• State-specific health insurance schemes
• Disability benefits and pensions
• Special education funding
• Non-governmental organisation (NGO) support programmes

Our team can help identify and apply for relevant programmes. Learn more on our financial support page.

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