What are the problems faced by health workers and parents when managing patients with a rare disease?

By : dr. Dimple Gobind Nagrani, Sp.A

Problems that occur when managing rare diseases are mainly due to limited number of cases (as already explained by the term “rare disease”). Many underestimate the magnitude of the problem due to limited number of patients. Not many health workers have adequate knowledge and experience in handling patients with rare disease. This is due to the patient’s non-specific signs and symptoms. Patients with rare diseases have symptoms such as a regression in their developmental milestone, loss of consciousness, decreasing body weight, seizures, enlargement of the liver and spleen. All these signs and symptoms may be confused with the signs and symptoms of other diseases. Therefore, it is advisable for health workers who suspect their patients as having a rare disease to refer them to a referral hospital. At the referral hospital, patients are managed as a team with experts from more than one division.

A very common issue that arises when discussing the management of rare diseases is cost-effectiveness in diagnosis and management. Diagnostic procedures are still very limited in Indonesia, therefore a definitive diagnosis is made through a collaboration with a few laboratories in Taiwan, Malaysia, Hong Kong and Australia. Pharmaceutical as well as milk companies in Indonesia do not produce the orphan drugs or foods needed to manage a patient with a rare disease. This is because of the small number of need when compared to the normal types of milk or food products targeted for healthy children.

Orphan food and orphan drugs need to be imported from other countries with a high cost. The process of orphan food and drugs entry to Indonesia is through a special access scheme channel. For example, the cost of enzyme replacement therapy for the rare disease Mucopolysaccaridosis is IDR 3 Billion for every 6 months. Currently, referral hospitals have collaborated with government policy makers to get support from the national health insurance for the patient’s hospital admission and support from a few companies to donate for orphan drug and orphan food support.

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