The Joshua Hellmann Foundation for Orphan Disease focuses on raising awareness and providing support for the diagnosis of orphan diseases among children and teenagers below the age of 19 years, who have been recommended by licensed pediatricians based in Hong Kong.

We also seek to improve the overall welfare of children with orphan diseases in Hong Kong by providing a source of information and resources related to diagnosis, care and treatment for patients and their families. In addition, we support advocacy initiatives which aim to improve the status of patients suffering from orphan diseases in Hong Kong in the longer term.

We focus on the area of diagnosis because this often presents a bottleneck to treatment. We ultimately hope to make access to accurate diagnosis equal to all children in Hong Kong.

• Orphan disease patients often face enormous difficulties in obtaining an accurate and timely diagnosis – or even basic information about their conditions – because their physicians are simply unfamiliar with their symptoms, which are often vague and confusing. Since most orphan diseases are heavily under-researched, patients and medical professionals often lack the information they need to develop appropriate options and leverage the resources that are available. In the U.S., it was found that almost 1 in 3 rare disease patients received a diagnosis between 1 to 5 years after the onset of symptoms, while 1 in 7 went undiagnosed for 6 or more years.¹

• Diagnosis and possible treatment for a significant proportion of orphan diseases are not routinely available and covered by the Hospital Authority. Therefore, in order to have a professional diagnosis, funding is required. The cost of an individual diagnostic test can run into the thousands; this is simply too much for many families to afford.

We also place a particular emphasis on the area of rare metabolic diseases – specifically, inborn errors of metabolism (IEM), also known as congenital or inherited metabolic diseases – as dozens of these diseases can now be detected through newborn screening. Newborn screening tests can enable a much earlier diagnosis to be performed and therefore lead to significantly better treatment options and outcomes. 

Source: National Organization for Rare Disorders