Rare diseases include metabolic and genetic disorders. Their treatment, screening tests and diagnosis facilities are not available commonly in Pakistan. The tests that The Zahra Beau Naqvi Foundation Welfare Trust (The ZB Foundation) are providing free of cost are of inherited metabolic diseases in newborn babies.
The most reported of the rare inherited metabolic diseases in Pakistan are Adrenogenital Syndrome, Leukodystrophies, Lipid Storage Gaucher, Glycogen Storage Disease, Galactosemia, Mucopolysaccharidiosis, Porphyria, Cystic Fibrosis, Methylmalonic Acidemia, Biotinidase deficiency, Tyrosinemia, Phenylketonuria (PKU), Congenital Hypothyroidism, Maple Syrup Urine Disease and Mitochondriopathy. There is however less awareness among the medical practitioners and the patients regarding them – even less quantity of medical and genetic facilities supports the idea of newborn screening in Pakistan. Due to which the mortality rate is increasing as each day passes. The additional contributing factor is that of intermarriages, which accounts for 60% to date. The prevalence of inherited metabolic disorders is 1 in 784 live births. In the European Union, the incidence is estimated to be 1 in 5,000 live births. To date, about 1000 inborn errors of metabolism are estimated to have been identified. Pakistan has few clinically-trained geneticists; one of them is Dr Bushra Afroz of Agha Khan University, Karachi.
Inspired by the unfortunate demise of a beautiful girl hailing from northern areas of Pakistan, this organization has been set up aiming to screen every child who is given birth to in Pakistan via fund raisers. We at The ZB Foundation are at present performing diagnostic test on Congenital Hypothyroidism (the TSH test) as it is fairly most abundant of the inherited metabolic diseases in newborns. Many medical setups have stepped out of their comfort zones in order to support us like Kahuta Research Laboratory (KRL), Pakistan Institute of Medical Sciences (PIMS), Armed Forces Institute of Pathology (AFIP), Combined Military Hospital (CMH) Lahore and Rawalpindi, Holy Family Hospital, Khyber Teaching Hospital (KTH) Peshawar and Lady Reading Hospital (LRH) Peshawar to name a few.
This however is not the end to our noble cause. We are currently working on the development of the protocol for the engagement and extended networking with the various doctors especially chemical pathologists, pediatricians, nutritionists and the gynecologists; for the institutionalization of newborn screening at the national level; and for spreading awareness among the general public.
By Fizza Faizan