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Dr. Ashok Gupta, Professor of Pediatrics, Incharge Rare Disease, SMS Medical College, Jaipur, India: Interview with Microbioz Health

: 25-Feb-2021     : Kumar Jeetendra     Source : Microbioz Health

The science of genomics and metabolic disorders was rapidly evolving which further facilitated diagnostics and therapeutics of undiagnosed diseases thus we had a whole new world of Rare Diseases unfolding.
Here I am sharing an Interview with Dr. Ashok Gupta, Professor of Pediatrics, Incharge Rare Disease, SMS Medical College, Jaipur, India

What prompted you to become a doctor & why did you choose this specialization?
Human physiology always fascinated me, as a young student I dreamt of understanding the variables that produced different clinical responses amongst different individuals and also how suffering could be minimized. After doing my specialization in Pediatrics, I was exposed to a lot of undiagnosed diseases which became the starting point of my tilt towards Rare Diseases.
The science of genomics and metabolic disorders was rapidly evolving which further facilitated diagnostics and therapeutics of undiagnosed diseases thus we had a whole new world of Rare Diseases unfolding.
Thus, the novelty and the challenges brought me into this specialty.

How do you like to be recognized for your hard work?
There is no specific modality of getting to be recognized in some instances it is just a small social appreciation or it may be that i get nominated to important decision making body on Rare Diseases, any major journal publishing my case report and above all the smile on the face of my patients and their families.
How do you try and create a great patient experience?
For a great patient experience i would spend time to research to reach to a good diagnosis which also involves multiple organizations teaming up to provide free or subsidized investigational cost. Also coordinate the access to treatment at an affordable price.

What is a rare disease and how does it affect patients?
A rare disease is one which affects very few people, there are over 7000 rare diseases.
The manifestations are varied and range from dysmorphology to low blood sugar to convulsions to mental retardation to blood/joint/skin…protean manifestation.
What are the challenges that rare disease patients face in India?
There are multiple challenges that rare disease patients face, lack of trained medical personnel, poor access to diagnostics, delayed diagnosis, highly expensive investigations and therapy in most instances. Non availability of Medicines, inadequate social and governmental support.
What are the challenges you face while diagnosing Pediatric cases?
The challenges faced at my end are essentially financial constraints both for diagnostics and therapeutics. The turnaround time for investigations should also come down.
How has COVID impacted the treatment course for rare disease patients?
Covid phase made travel very difficult and many patients could not reach the hospitals. Even the transport of diagnostic samples and treatment medicines suffered.
There is a renewed impetus on Healthcare infrastructure. What kind of support do you think there can/ should be for the Rare disease burden in India?
There is an urgent need to establish regional centers of excellence where in all possible investigations should be done. A good transport facility and proper network of the regional centers need to be done.

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