CONGENITAL adrenal hyperplasia — a group of conditions affecting the adrenal glands — may be a rare disease, but it is one of the most common types of genetic disorders, exacerbated in Pakistan by the high rate of consanguineous marriages. In infants, symptoms present as vomiting, dehydration, poor feeding and weight loss. Another symptom, one that may explain why so many cases go undiagnosed for years due to stigma, is ambiguous genitalia. Not only is there a lack of awareness among most parents, many paediatricians often misdiagnose CAH in its early stages. Compounding the health and psychosocial issues for those born with CAH is another grievous fact — the medicines required for lifelong management of this disorder are practically unavailable in the market here. This, despite the fact that one of these drugs, hydrocortisone, is listed as an essential medicine by WHO and the Drug Regulatory Authority of Pakistan.

This drug shortage, like many others of late, once again boils down to a long-standing pricing dispute between Drap and local pharmaceutical manufacturers. In its 2015 pricing policy, Drap refers to a class of pharmaceuticals exempt from the price regime: orphan drugs. As in other countries, an orphan drug policy devises incentive mechanisms for local production of medicines required for treating rare, or ‘orphaned’, diseases. Assuming that producing hydrocortisone tablets — rather than its more commonly used ointment — is cost prohibitive given the relatively low prevalence of CAH, the drug ought to fall under this category. Yet, in the two years since the pricing policy was announced, Drap has failed to define an orphan drug policy. And so a drug that ought to be easily accessible — both in price and availability — is instead being smuggled into the country, with no quality assurance and skyrocketing prices during periods of uncertain supply. The inefficiency of Drap and the general apathy of the Ministry of National Health Services, particularly regarding awareness and prevention of hereditary diseases, must be immediately corrected.

Published in Dawn, August 22nd, 2017