of The Joshua Hellmann Foundation for Orphan Disease is to advance the awareness, diagnosis, treatment and research of orphan diseases, and improve the welfare of children with orphan diseases in Hong Kong.
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.
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
Joshua Hellmann Foundation for Orphan Disease was established in honor of my son, Joshua, who lived an active and inspirational life for fifteen years. He passed away in October 2007 after a courageous five-year battle with Melas Syndrome, an “orphan disease”, defined medically as a rare disease that is at a result often neglected by the medical and pharmaceutical industries.Learn more
The Foundation works together with many partners to achieve its objectives. We welcome cooperation with individuals and other organizations working in the area of orphan diseases.