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Apollo Children's Hospital, Chennai had launched the first comprehensive, one-stop Clinic for Rare Diseases.

15 Jul 2018

On 15th July 2018, Apollo Children's Hospital, Chennai in collaboration with Global Gene Corp Pvt Ltd, Mumbai had launched the first comprehensive, one-stop Clinic for Rare diseases being inaugurated by Ms. Preetha Reddy, Vice Chairman - Apollo Hospitals, Dr. Rema Chandramohan, President IAP-CCB and Dr. Saumya Jamuar, Co-founder and Co-Chief Scientific Officer, Global Gene Corp. On this occasion Paediatric CME was also conducted. Pediatricians from Chennai and across Tamil Nadu, Nellore, Cuddappa and Tirupati attended the session.

World Health Organisation has defined rare disease as those diseases with a frequency of less than 10 per 10,000 populations. However this definition varies in different countries. There are around 7000 rare diseases in children affecting about 6-7% of the total population. Our Centre for Rare Diseases will be exclusively dealing with these rare diseases; which are mostly life-long conditions and very difficult to diagnose, further leading to delay in the treatment. This causes significant problems to the affected children and their family.

Diagnosing these conditions are challenging due to the rarity of the problem and unusual presentations. This needs adequate input from different Pediatric Specialists with lots of scientific discussions between Specialities to arrive at the right conclusion. We, at Apollo Children's Hospital have all the Pediatric Super-specialists under one roof including Paediatric Anesthetists, Cardiologists, Cardio-thoracic surgeons, Dermatologists, Endocrinologists, ENT specialists, Geneticist, Neurologists, Neurosurgeons, Ophthalmologists, Orthopedicians, Paediatricians, Plastic Surgeons, Pulmonologists, Radiologists, Rheumatologists, Surgeons and Urologists, dedicated Pediatric Cath Lab and an efficient Organ Transplantation Programme. These state-of-the-art facilities strengthen our Centre for Rare Diseases to facilitate the diagnosis and treatment of all these challenging conditions to help these struggling children and their families.

A patient undergoes a comprehensive assessment from the concerned Pediatric Super-Specialists followed by a multi-disciplinary meeting. The appropriate investigations is planned and performed after discussing with the parents. The results of the investigations are further discussed within the multi-disciplinary team to arrive at the right diagnosis and to structure a comprehensive treatment plan, which is further discussed with the parents. For patients, whose diagnosis could not be obtained thru these investigations, are discussed with Clinical Genetic team at Global Gene Corp based in the U.K and the U.S.A. With their expert opinion, further blood investigations will be obtained for Whole Exome Sequencing test, to arrive at a diagnosis. Although, this is a very expensive investigations but will be conducted free of cost for the needy patients from our Research fund. This will help us to identify new mutations and confirm these rare diseases, further facilitating treatment of these affected children.

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