KARACHI: Health experts at a session held on Tuesday underscored the need for creating awareness about cystic fibrosis (CF) — a genetic disorder affecting a large population including children in the country — while calling for introducing newborn screening programmes and expanding genetic diagnostic services to identify its patients.
The public awareness session on cystic fibrosis was organised at the Indus Hospital.
According to experts, cystic fibrosis is a life-limiting inherited disorder caused by mutations in a specific gene (CFTR). It leads to the production of thick, sticky mucus that progressively damages the lungs, pancreas, and other vital organs.
Globally, the disease affects an estimated 150,000 people and has seen major advances in diagnosis and treatment over recent decades. However, in Pakistan, the disorder remains significantly underdiagnosed and underreported, largely due to limited awareness, lack of routine screening and restricted access to specialised diagnostic facilities.
Experts at the session expressed concern that the actual burden of disease in Pakistan is likely much higher than currently documented, as many patients remain undiagnosed or are misdiagnosed with recurrent respiratory or gastrointestinal conditions.
The session was led by Dr Muhammad Fareed Uddin, Head of Paediatrics at The Indus Hospital & Health Network (IHHN) along with a distinguished delegation from the Marmara Cystic Fibrosis Team, Turkiye, including Prof Dr Bulent Karadag, Prof Yasemin Gokdemir, Prof Dr Ozge Kenis Coskun, Damla Kocaman and Gamze Tastan.
Speaking on the occasion, Dr Fareed emphasised that a large number of cystic fibrosis patients in Pakistan remain undiagnosed, particularly in rural and underserved areas where awareness and access to specialised diagnostic facilities are limited.
He explained that children presenting with recurrent chest infections, chronic cough, poor weight gain, chronic diarrhoea, or persistent respiratory symptoms are often diagnosed late, resulting in irreversible lung damage before appropriate treatment can begin.
He stressed that strengthening awareness among healthcare professionals, caregivers, and the general public is critical for timely diagnosis and improved outcomes.
Dr Fareed further shared that more than 200 patients with cystic fibrosis are currently enrolled in the IHHN’s HEAL Cystic Fibrosis Programme, where they are receiving structured, multidisciplinary care and long-term follow-up.
He added that a significant number of children and adults across Pakistan may still be living with undiagnosed disease due to low awareness and limited diagnostic infrastructure.
He also highlighted that specialised cystic fibrosis care was previously largely unavailable in Pakistan, forcing many families either to seek treatment abroad or remain without proper management.
The visiting experts from Turkiye shared their experience in delivering multidisciplinary CF care models, involving pulmonologists, physiotherapists, dietitians, nurses, and specialized care teams.
They emphasised that coordinated care significantly improves lung function, nutritional outcomes, and overall quality of life for patients.
Published in Dawn, June 10th, 2026