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Doctors at Aster CMI Hospital rescue teen suffering from rare genetic disease

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Girl was suffering from repeated skin rashes and kidney ailments for over a decade and also developed difficulty in walking and stiffening of lower limbs due to Complement Deficiency genetic disease

A 13-year-old-girl from Mauritius, suffering from Complement Deficiency genetic disease, C1q deficiency since the age of 2, recently received a bone marrow transplant at Aster CMI Hospital, Bangalore. The transplant was carried out by the joint efforts of Dr Sagar Bhattad, Consultant, Pediatric Immunology and Rheumatology, Dr Stalin Ramprakash and Dr CP Raghuram, Consultants, Pediatric Hematology and BMT, Aster CMI Hospital, Bangalore.

The girl 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, she was on multiple immune-suppressants to control the autoimmune condition – Systemic lupus erythematosus and was being treated with over 10 different medications for her severe skin disease, kidney disease and pulmonary hypertension.

She was wheelchair bound and also had a high risk of permanent renal failure till the Pediatric Immunology department at Aster CMI Hospital diagnosed her to have a very rare genetic disease – complement C1q deficiency as confirmed by the genetic studies conducted at the hospital. She was advised to undergo a bone marrow transplant and her father was found to be a full HLA match. He donated his bone marrow 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.

Currently, less than 10 such cases have been successfully transplanted in the world so far. The first one was conducted in UK in 2014.

While speaking about the rarity and complexity of such cases during the event, Dr Bhattad, “Though considered to be rare diseases, our hospital is witnessing 3-4 new children every month who are diagnosed to have immune deficiency. 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.

Dr Nitish Shetty, CEO, Aster CMI Hospital, said, “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 Bone Marrow Transplant Unit (BMT) recognised 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.”

“Transplants in children with severe autoimmune diseases and immune deficiencies are much more complex than transplants for other conditions (thalassemia, leukemia). These children often present with serious infections 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”said Dr Ramprakash.

The Pediatric Immunology Department at Aster CMI is one amongst a few centres in India to be recognised as Foundation for Primary Immunodeficiency Diseases (FPID) centre of excellence in the field of Primary Immunodeficiency (PID). FPID is an international organisation based in the US that supports the education, early diagnosis, genetic counseling, therapy, and research of PID in both India and the US. It recognises institutes for its capacities in the diagnosis and treatment of such challenging cases.

Dr Sudhir Gupta, Founder, FPID, said: “Though PIDs are four 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.”

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