Challenges and Recommendations

Lack of Awareness and Comprehensive Healthcare Provisions

As the conditions are rare, many healthcare professionals may be unfamiliar about the signs and symptoms of the various types of rare diseases, and consequently lack knowledge of what immediate treatment is necessary, and what to advise the patients and parents. Diagnosis is often delayed, even in developed countries such as the USA and Britain, by five to seven years. Early diagnosis reduces long term complications in the patients, lessens anxiety amongst family members, enables proper planning, and in many cases, genetic counselling could be provided to assist the parents for family planning and future prenatal diagnosis. Thus, it is imperative that the current and future healthcare professionals – and more generally the public – are better and more comprehensively educated about rare diseases.

As Malaysia’s healthcare continues to improve with a reduction in mortality rates from malnutrition and infectious diseases,chronic NCDs such as rare diseases,congenital malformations and birth defects are becoming the main causes of under-5 childhood mortality.While rare diseases should be handled by multi-disciplinary teams in tertiary centres, there is a need for increased awareness and funding for screening, diagnosis, treatment as well as research and educational programs on these conditions (The Star, 2017). Information on rare diseases is often difficult to understand and mainly focuses on the more severe end of the spectrum. Patient support groups like the Malaysian Rare Disorders Society, Rare Disease Alliance Foundation Malaysia and Malaysia Lysosomal Diseases Association increasingly play an emerging role in the dissemination of information to increase awareness as well as the provision of advisory services, fund-raising and patient advocacy.Very often, empowering patients and families with knowledge provides multiple beneficial effects: the caregivers are more likely to take charge of treatment regimes, show better medication compliance, are active in advocacy roles and provide essential support for each other (Malaysia Rare Disorders Society, 2013).

However, due to limited financial support and resources as well as persistently low levels of awareness, many patients with rare diseases remain undiagnosed or are not given the appropriate treatment. In addition, parents of these young patients do not receive adequate support or respite care and many continue on a ‘diagnostic odyssey’ for years. A concerted effort on behalf of the government ministries must be made to address this issue and to expand the effort towards awareness and greater welfare support.

Due to limited financial support and resources as well as persistently low levels of awareness, many patients with rare diseases remain undiagnosed or are not given the appropriate treatment.