When the rare must also be well done

PUBLISHED : Thursday, 19 June, 2014, 2:50am
UPDATED : Thursday, 19 June, 2014, 2:50am

Pompe, Gaucher, Fabry, Mucopolysaccharidosis Types I, II and IV - when you type these words on your computer keyboard, you will see a bundle of red lines under them. Not because they've been misspelt, but because these are the names of disorders so rare they have yet to be archived in Microsoft Word or captured in most dictionaries.

Over the years, there have been appeals from different sectors of the community for the Hospital Authority (HA) to promulgate a clear definition of "uncommon disorders". The government has also been urged to formulate a specific policy to provide assistance for patients suffering from these disorders.

Obviously, the interpretation of "uncommon disorders" varies among countries.

One group of about 50 inherited uncommon diseases, Lysosomal Storage Disorders (LSDs), affects enzyme metabolism and causes progressive malfunctioning of organs. While individually rare, together they can affect 1 in 8,000 people.

The HA has put in place an independent "Expert Panel on Enzyme Replacement Therapy (ERT) for LSDs" to assess on a case-by-case basis the suitability of this kind of treatment.

Public hospitals also provide multidisciplinary care and other conventional treatments for patients with rare disorders, such as rehabilitative care, pain alleviation, surgical treatment and bone marrow transplants.

Whether ERT - which can cost HK$5 million to HK$6 million a year per patient - can produce significant positive clinical outcomes varies significantly among patients.

We are facing the daunting challenge of prioritisation and optimal utilisation of finite public resources to meet the demands from different patient groups in the community. A delicate balance must be maintained and the HA will uphold the principle of equitable use of health care resources and provide evidence-based treatment in the absence of comprehensive evidence on the efficacy of drug treatment for uncommon disorders.

In recent years, the government has allocated HK$45 million (with an additional HK$10 million for 2014-15) for the HA to manage increasing demand and sustain the provision of ERT.

The HA will maintain close contact with patient groups with a view to providing appropriate medical care for different types of disorders, while the expert panel will regularly assess the outcomes of ERT on a case-by-case basis, and making reference to clinical evidence worldwide.

Dr C C Luk is chairman of the Expert Panel on Enzyme Replacement Therapy for Lysosomal Storage Disorders