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Rare diseases: causes, symptoms, and available treatments
Between 6,000 and 8,000 rare diseases have been identified worldwide, but only 5% have specific medications. Every discovery, treatment, or care option improves the lives of those facing these conditions.
What Are Rare Diseases?
Rare diseases are conditions that affect fewer than 1 in 2,000 people. Most have a genetic origin, either inherited or resulting from spontaneous mutations, and few have specific treatments.
Even without a cure, it is possible to provide therapies that manage symptoms and improve quality of life. Causes can be genetic, infectious, autoimmune, environmental, or unknown, and they may affect different body systems, appearing at any age, from birth to adulthood.
6,000 to 8,000 rare diseases identified globally
Only 5% have specific medications
About 80% have a genetic origin
Treatments focus on symptom management and quality of life
Prevalence: ultra-rare (<1/50,000) and rare (<1/2,000)
Age of onset: congenital, childhood, adolescence, or adulthood
Course: may be chronic and debilitating or mild with slow progression
Categories of rare diseases
By Cause/Origin
Genetic: mutations or gene alterations (e.g., cystic fibrosis, hemophilia)
Non-genetic: rare infections, autoimmune conditions, environmental factors
Idiopathic: unknown cause (e.g., Juvenile Idiopathic Arthritis)
By System or Affected Organ
Immunological: immunodeficiencies, autoinflammatory diseases
Neurological: spinal muscular atrophy
Hematological: sickle cell anemia
Metabolic: Gaucher disease, mucopolysaccharidosis
Musculoskeletal: osteogenesis imperfecta
Other: endocrine, pulmonary, dermatological conditions
By Prevalence
Ultra-rare: <1 in 50,000
Rare: <1 in 2,000
By Age of Onset
Congenital
Childhood
Adolescence
Adulthood
By Severity and Progression
Chronic and debilitating
Mild or slowly progressive
Personalized guidance, care, and support
Experienced Doctors in Rare Diseases
Connect with professionals providing specialized clinical care, accurate diagnoses, and appropriate treatments.
Mental Health Specialists
Connect with psychologists for therapeutic support, helping patients and families navigate the challenges of their journey.
Physical Therapy
Connect with physiotherapists for treatment and rehabilitation, with tailored exercises promoting independence and overall well-being.
Legal Support
Guidance to access treatments via SUS, private health plans, and imported medications.
Medication Access via SUS
Support in obtaining essential treatments.
Most litigated medications in Brazil
We maintain an updated list of the most litigated medications in Brazil, including access information through SUS and private health plans.
You don’t have to face this journey alone
Our network connects you with professionals and resources.
Assessment & Connection
Initial guidance to identify needs, understand your case, and connect you with the right specialists.
Ongoing Care
Support at every stage, from diagnosis to treatment and long-term care, ensuring comprehensive attention.
Make a difference for those who need specialized care
Many people face rare diseases and conditions requiring special care every day. Your support can provide hope, quality of life, and essential guidance for those who need it most.