The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also 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.
As mentioned, due 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.
There is no systematic approach to analysing the cost-effectiveness of new technologies, treatments and services for rare diseases as a collective group. Therefore, there is a limited understanding of the resources being utilised to support people living with rare diseases, or the way in which these resources are organised to support efficient and effective management strategies.
Given the crippling nature of rare disease can lead to emotional, physical and financial stresses upon the individual, the caregivers and families. Even with the support from the healthcare system, individual affected with rare disease also require significant support from the family. In turn, those providing care also require significant support.
How can things change?
The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies among developed countries in Europe and America, and most recently in Asia. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most “recurrent” ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.
However, the road ahead is long with much progress to be made. Over here in Singapore, the awareness on rare disorders/diseases is relatively low and thus, support networks are very limited.
Many rare disease patients were not covered under Medishield (those born before 1st March 2013) because most of the rare disorders are considered congenital abnormalities. Although the government has recently introduced Medifund Junior to support needy children, some families were unable to receive the assistant because they did not meet certain criteria.
The government has announced the new Medishield Life where all citizens will be covered and they will make healthcare affordable. However, how people living with rare disorders will be supported is not been mentioned. For these people, the support and funding networks are appallingly limited, if not non-existent.
Therefore, our society hope to bring more attention for people living with rare disorders by advocating for a National Rare Disease Plan that create a platform and framework to develop strategies in meeting the following:
- Raise awareness on rare diseases by educating the patients, parents, caregivers and the general public
- Promote burden of illness (BOI) study of rare diseases on patients, families, health professionals and the community. Sharing the information with the general public and government
- Advocate the government in partnership with the families and health professionals, for people affected by rare diseases
- Increase knowledge about rare diseases that is relevant in the Singapore context among health professionals by providing educational resources and networking opportunities for health professionals
- Improve health care for people with rare diseases through timely diagnosis, early intervention, access to drugs and other treatment, improved primary care and specialise services
- Develop an umbrella organisation to support people with rare diseases by linking existing organisations to facilitate the peer support networks among rare disease groups
- Promote research on rare diseases through collaboration among national and international research partners
- Introduction of national rare disease registry