Rare Diseases Day – Exclusive Interview

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IMDs – Inborn Metabolic Diseases – where newborns lack essential enzymes in the body that can lead to serious complications in a child’s development – are one subset of between 5,000 and 8,000 types of rare diseases that have been detected globally, according to the European Medicines Agency. In an effort to spread awareness regarding this important medical day, our Assistant Lab Executive Fizza Faizan Farooqui interviewed Colonel Dr Shahid Mahmud from PNS Shifa Karachi. He has been sending us samples of Detailed Screening of High-Risk cases since almost a year.

Who is Dr Shahid Mahmud?

Colonel Dr Shahid has the following titles to his honor: FCPS, FRCP Edin, FRCPI, and FRCPCH. He has done a Fellowship in Neonatal Medicine, RCPCH in UK, and a Fellowship in Pediatric Neurology also from UK. He is also FCPS. Currently, he is Consultant Neonatal Pediatrician at PNS Shifa Karachi and Associate Professor of Pediatrics at Bahria University Medical & Dental College Karachi.



Fizza: How would you explain the rare diseases to a common man?

Dr Shahid Mahmud: These are the result of some mechanisms, which are not correctly made while baby is developing and consequently some dangerous stuff stays in the body, on the other hand some useful and essential stuff is deficient in the body. This has very serious consequences on body.


Fizza: Do you agree that universally acclaimed rare diseases are not so rare in South Asia particularly in Pakistan? Why is this so?

Dr Shahid Mahmud: Yes these are not rare indeed in our part of the world. I think because of high incidence of family marriages and consanguinity.


Fizza: Do you think Newborn Screening plays an important role to treat the Rare Diseases?

Dr Shahid Mahmud: Of course it is the need of the hour; we are already much behind the rest of the world. This important aspect has been neglected already.


Fizza: What challenges are posed to a pediatric doctor in treating such infantile patients?

Dr Shahid Mahmud: They are huge. Spanning from the diagnosis to the emergency treatment facilities, there is lack of trained pediatric and metabolic consultants. Unavailability or high cost specialized formulae and nonexistent pediatric solutions in our country.


Fizza: What can a common man do to raise awareness about it around him?

Dr Shahid Mahmud: I think a common man needs to be educated along with the medical fraternity.


Fizza: Do you believe that ZB Foundation is contributing to eradicate the rare diseases from Pakistan?

Dr Shahid Mahmud: They have indeed taken the vital first step towards a thousand mile journey. They are like the first rain drop and their contribution will go a long way in eradication of metabolic disorders. I would like to suggest that ZB Foundation should act as a ‘nidus’ and formulate more robust and multidisciplinary pediatric metabolic service.

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