Bengaluru

Teenager with rare genetic disease gets a new lease of life

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Doctors claim she is the first teen in Asia suffering from this complex condition to receive a bone marrow transplant

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, got a new lease of life through a bone marrow transplant.

The teenager 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.

Doctors at Aster CMI Hospital, who recently performed the bone marrow transplant on her, claimed that she is the first teen in Asia suffering from this complex condition to receive a bone marrow transplant. The hospital also helped the family raise ₹26.5 lakh through a crowd funding platform for the transplant.

She was not just wheelchair-bound, but also had a very high risk of permanent renal failure till the Pediatric Immunology Department at the hospital diagnosed her condition. She was advised to undergo a bone marrow transplant.

Her father was found to be a full HLA match. He donated his bone marrow. His daughter is cured and can expect to lead a normal life. Currently, she is under medication and would require close follow-up for the next six months, said Sagar Bhattad, Consultant, Paediatric Immunology and Rheumatology.

Less than 10 such cases have been successfully transplanted in the world so far. The first one was conducted in the UK in 2014, said the doctor who, along with Stalin Ramprakash and C.P. Raghuram, Consultants, Paediatric Hematology and Bone Marrow Transplant, conducted the transplant.

“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,” he added.

What is C1q deficiency

This is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis.

C1q is a protein. Along with other proteins C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system — a group of proteins that work with the immune system.

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Printable version | Jan 18, 2020 5:42:24 AM | https://www.thehindu.com/news/cities/bangalore/teenager-with-rare-genetic-disease-gets-a-new-lease-of-life/article26525298.ece

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