People living with rare diseases

31 August, 2022

Extract below and a comment from me. Full text:


PLWRD face distinct and significant challenges that arise from the infrequency of their medical conditions, such as a long diagnostic journey, inadequate clinical management, and limited access to effective treatments. The burden of rare diseases on patients, their carers and families, healthcare systems, and society overall, merits greater visibility and recognition.

A rare disease is a medical condition with a specific pattern of clinical signs, symptoms, and findings that affects fewer than or equal to 1 in 2000 persons living in any WHO-defined region

of the world.

Rare diseases include, but are not limited to, rare genetic diseases. They can also be rare cancers, rare infectious diseases, rare poisonings, rare immune-related diseases, rare idiopathic diseases, and rare undetermined conditions.

While the frequency of most rare diseases can be described by prevalence, some rare diseases, such

as rare cancers and rare infectious diseases, can be more precisely described by incidence.


COMMENT (NPW): HIFA supports Rare Disease Day

'What are the universal challenges faced by those living with a rare disease?

- The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis.

- The need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.

- Owing to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition, symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.

- Research needs to be international to ensure that experts, researchers and clinicians are connected.'

HIFA stands ready to help raise awareness and address the information and learning needs of people with rare diseases, their families, their health workers, and policymakers. These needs are especially great in relation to rare diseases as compared with more common diseases, resulting in avoidable suffering and death.

Neil Pakenham-Walsh, Global Coordinator HIFA,

Working in official relations with WHO