As a healthcare provider, you may be the first point of contact for someone at the beginning of their life-changing journey of living with a rare disorder.
Your approach can mean all the difference to how their journey is experienced, from getting a diagnosis to accessing the right care. You do not need to know every disorder, but you can walk alongside your patient and be open to learn with them.
Rare Disorders NZ is a source of centralised information on rare disorders, and can connect you and your patient to relevant resources, networks and support.
There are a number of online databases containing detailed information on rare disorders.
Orphanet - A database dedicated to information on rare diseases and orphan drugs. Access is free of charge. It provides information on any disease that occurs less often than 1 in 2,000 in the population, whether genetic, auto-immune, infectious, cancers or diseases with no accurate diagnosis. It has most of the numerous rare diseases described in its database.
Medics 4 Rare Diseases - M4RD provides education and practical tools targeted at medical professionals, enabling them to reduce the diagnostic odyssey and improve the patient experience. Their online module, Rare Disease 101, is aimed at medical professionals with little prior knowledge in rare diseases. It consists of the basic principles of what rare disease is, how you may suspect a rare disease, challenges faced by those living with a rare disease and how to support them.