Doctors rescue teen with rare genetic disease

DUBAI: Ciara (name changed), a 13-year-old-girl from Mauritius, suffering from rarest of the rare Complement Deficiency genetic disease, C1q deficiency since the age of 2, became the first teen in Asia suffering from this complex condition to receive a bone marrow transplant. Thanks to the team of efficient doctors at Aster CMI Hospital in Bangalore, a part of Aster DM Healthcare’s global network, 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 – Systemic lupus erythematosus and was being treated with over 10 different medications for her severe skin disease, kidney disease and pulmonary hypertension.

Not only was she wheelchair bound, but she also had very high risk of permanent renal failure till the Paediatric Immunology Department at Aster CMI Hospital diagnosed her with 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 to Ciara and the teen has been cured to lead a normal life now. Currently, she is under medication and would require close follow-up for the next six months. Efforts taken by the hospital to help the family raise a large sum worth Rs26.5 lakhs through a crowdfunding platform played a vital role in making the successful transplant possible.

Thanks to the team of doctors at Aster CMI Hospital in Bangalore, Ciara got a new lease of life.

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

As per a research conducted worldwide, 1 in 2,000 children suffer from an immune deficiency. If these figures are extrapolated to the city of Bangalore, around 5,000 children will have immune deficiency disease.

“Transplants in children with severe autoimmune diseases and immune deficiencies are much more complex than transplants for other conditions (thalassaemia, leukaemia). These children often present with serious infections and internal organ damage, making the treatment more challenging," said Dr Stalin Ramprakash, lead paediatric BMT expert at Aster CMI Hospital