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.
Below are some helpful links and resources for information on rare disorders.
You are also welcome to contact us today to see how best we can support you and your patient.
Rare Disorder Databases
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.
Clinical Trials - There are many clinical trials investigating various treatments across the world. The largest clinical trials database is clinicaltrials.gov which lists all research studies in over 200 countries.
Resources for Clinicians
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.
Research Review, Speaker Series: Awareness of Rare Disorders - Lisa Foster, CE of Rare Disorders NZ, presented this workshop as part of the GP CME meeting held in Rotorua in June 2022 in order to provide improved awareness of rare conditions and offer opportunities, knowledge and resources that allow community practitioners to be better prepared for identifying and managing undiagnosed and rare patients.
Find Zebra - FindZebra is a tool for helping aid the diagnosis of rare diseases using freely available high quality curated information on rare diseases and open-source information retrieval software. FindZebra is intended primarily for physicians and other professionals concerned with diagnosis of rare diseases.
Rare Diseases Clinical Research Network - The RDCRN program is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing.