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First in Asia, Aster CMI doctors rescue teen suffering from rarest of the rare genetic disease


Doctors give a new lease of life to teen through a marrow transplant. Till now, less than 10 such cases have been successfully transplanted in the world.

The hospital highlights the need to increase awareness of Department recognized as Foundation for Primary Immunodeficiency (FPID) centre of excellence.

Ciara (name changed), a 13-year-old-girl from Mauritius, suffering from rarest of the genetic disease, since the age of 2, became the first teen in suffering from this complex condition to receive a marrow transplant. Thanks to the team of efficient doctors at Aster CMI Hospital, Bengaluru for granting her a new lease of life. Ciara was suffering from repeated skin rashes and kidney ailments for over a decade and also developed difficulty in walking and stiffening of lower limbs. Until the transplant, Ciara was on multiple immune-suppressants to control the autoimmune condition - and was being treated with over 10 different medications for her severe skin disease, kidney disease, and

Not just she was wheelchair bound, but also had a very high risk of till the department at diagnosed her to have a very rare - complement as confirmed by the genetic studies conducted at the hospital. She was advised to undergo a marrow transplant and her father was found to be a full HLA match. He donated his bone marrow to Ciara and the teen has been cured to lead a normal life now. Currently, she is under medications and would require close follow-up for the next six months. Efforts were taken by the hospital to help the family raise a large sum worth Rs. 26.5 lakhs through a crowdfunding platform played a vital role in making the successful transplant possible.

Currently, less than 10 such cases have been successfully transplanted in the world so far. The first one was conducted in the UK in 2014. The transplant was carried out by the joint efforts of Dr Sagar Bhattad, Consultant, and Rheumatology, Dr and Dr CP Raghuram, Consultants, and BMT, Aster CMI Hospital, Bengaluru.

"We may have come across families who say "My child has been unwell for years. He/she falls sick very often, has been admitted thrice/many times in various hospitals and is not growing well." Some of these families may have children with problems in the immune system. These children get hospitalized on several occasions. They are treated with a variety of However, one wonders why should a child fall repeatedly ill? The caregivers do not find a proper answer to their ongoing problems, despite consultations from several doctors," said Dr Sagar Bhattad, Consultant, Pediatric Immunology and Rheumatology,

"Majority of such children suffer from a dreaded group of called 'Primary diseases'. Unfortunately, physicians and paediatricians are not well versed with these and this may result in undue delay in the diagnosis. Though considered to be rare diseases, our hospital is witnessing 3-4 new children every month who are diagnosed to have an We strongly believe that this is only the tip of the iceberg and several thousand children will continue to suffer without being diagnosed unless we increase awareness about these diseases amongst doctors and public," added Dr Bhattad. He is also the in the country and a gold medalist for research in lupus.

"It is a great pleasure to see a young life from another country getting a new bloom in India, thanks to the hard work and efforts of our doctors. We are glad to have a dedicated Immunology and Unit (BMT) recognized as the centre of excellence by FPID for treating those suffering from very rare, complicated genetic anomalies, the treatment and awareness of which is not available everywhere and among everyone. We strive to create benchmarks in the immunodeficiency treatment as we have done across other segments and hope to save many precious lives in years to come," said Dr Nitish Shetty, CEO,

"Transplants in children with and Immune deficiencies are much more complex than transplants for other conditions (thalassemia, leukemia). These children often present with and internal organ damage, making the treatment more challenging. Our BMT team is well versed in handling such cases and presence of a dedicated Pediatric Immunologist and relevant laboratory facilities helped make this treatment possible," added Dr Stalin Ramprakash, Lead Pediatric BMT expert at Aster CMI Hospital.

As per research conducted worldwide, 1 in 2,000 children suffers from an immune deficiency. If these figures are extrapolated to the city of Bangalore, around 5,000 children will have Aster CMI Hospital, is equipped with the state-of-art Pediatric Immunology Unit, headed by Dr Aster Immunology and Unit provide an end-to-end solution to every child with Immune Deficiency. The at Aster CMI is one amongst a few centres in to be recognized as (FPID) centre of excellence in the field of Primary Immunodeficiency (PID). FPID is an international organization based in the US that supports the education, early diagnosis, genetic counselling, therapy, and research of PID in both and the US. It recognizes institutes for its capacities in the diagnosis and treatment of such challenging cases.

"Though PIDs are 4 times more common than haemophilia, twice common as cystic fibrosis, and almost as common as multiple sclerosis, yet very few people and physicians know about PIDs. Therefore, there is a great need to educate the population in general regarding warning signs of PIDs, and practising physicians to diagnose and treat these patients to prevent complications and death. In India, there are very few institutions where patients with PIDs are diagnosed or treated; the majority of patients remained undiagnosed and die, contributing in part to India's high infant mortality rate. FPID supports research and treatment of several needy patients at these centres of excellence," said Dr Sudhir Gupta, of FPID.

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First Published: Fri, March 15 2019. 11:41 IST