The JHF for Orphan Disease is building a network of health-related entities and professionals, from which it will draw in order to identify children in Hong Kong with orphan diseases. The foundation will then make recommendations to the JHF Board of Directors for children to participate in the Commitment. They will continue to provide capital, support and referrals for such children, and conduct periodic follow-up on a periodic, as-needed basis.
-Raise funds - complete.
-Identify potential candidates for support - complete/ongoing.
-Submit proposal to the JHF Board for approval - end Jan '09.
-Implement Testing - Ongoing through 2009.
-Periodically report progress - Ongoing through 2009.
The Joshua Hellmann Foundation for Orphan Disease was founded by Christina Hellmann in honour of her son, Joshua. Joshua suffered from the rare orphan disease called Melas Syndrome, which he died from in October 2007. Ms. Hellmann's goal is to raise awareness and research of orphan diseases as well as help families that need financial resources to combat the diseases.
'Orphan Disease' refers to those diseases that do not capture the attention of the pharmaceutical industry for development of drug treatment due to their rarity, and therefore their unattractiveness in terms of potential for commercialization. The majority of these diseases have genetic bases and are extremely rare, occurring less than once in every 10,000 people.
Children with orphan diseases require early diagnosis because treatment may be required for some of them in order to prevent severe disability or death. In Hong Kong, the resources for diagnosing orphan diseases are sub-optimal. If certain diagnostic tests are not available locally, specimens from these children have to be sent to centers overseas. Some of these tests, however, can cost up to HK,000 per child, a sum that many families simply cannot afford.
Due to these circumstances, the diagnosis and treatment of orphan diseases may be delayed, thus further endangering the lives of those who suffer from them. JHF aims to help raise awareness in the medical and patient communities to identify children who suffer from orphan diseases, and to better diagnose and treat them.
In Hong Kong, orphan diseases are estimated to affect approximately 20,000 to 30,000 children and adults. There are about 500 well-documented types of these diseases, each with a prevalence of about 1:10,000 to 1:20,000 within the local population. The Foundation commits to diagnosing a sub-set of this population, with a focus on children, given that they have greater potential to survive an orphan disease if they are diagnosed and treated early and appropriately. We also commit to scaling-up the initiative over time.
SEEKING: financial resources, implementing partners, best practices information, media and marketing assistance. They are fully funded for the current commitment but need further funding to help additional patients.
OFFERING: financial resources, implementation