Rare Diseaes

Some examples of rare diseases are Spinal Muscular Atrophy, Osteogenesis imperfecta, Achondroplasia or Rett Syndrome,  Huntington’s disease, Charcot-Marie-Tooth, Amyotrophic Lateral Sclerosis, cardiomyopathy, Retinitis Pigmentosa or Familial Adenomatous Polyposis,  Systemic Lupus Erythematosus (Rare but not genetic), and  Familial Hypercholesterolemia (genetic but not rare disease). 

 list of rare cancers in adults 

Rare disease patients often face common problems and challenges such as:

• delay in getting a correct diagnosis;
• lack of information and/or scientific knowledge on their own disease;
• lack of appropriate healthcare;
• difficulties and inequities in accessing treatment and care.