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Case Study: How A Mother Saved Her Baby From A Rare Genetic Disease

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Case Study: How A Mother Saved Her Baby From A Rare Genetic Disease
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LAD is a "primary immunodeficiency" that causes patients to be "abnormally susceptible to developing frequent soft-tissue infections, gum inflammation, and tooth loss". The rare genetic disease basically prevents the body's immune system from functioning normally.

Written by Prerna Mittra |Updated : December 6, 2023 4:01 PM IST

There are many remarkable medical cases that unfold from time-to-time, giving patients hope and the ability to have faith in doctors and the health infrastructure existing in the country. One such case emerged recently, wherein a five-month-old baby weighing less than 5 kg was treated for a rare congenital immune disorder, Leukocyte Adhesion Deficiency (LAD). Just last month, the case came to doctors at Bengaluru's Aster CMI Hospital.

The baby had been suffering for a while with recurrent severe infections, akin to her elder brother, who succumbed to a similar infection during infancy. Due to low immunity and being underweight, the baby's condition started to deteriorate when she was about two months old. A comprehensive immunological and genetic testing confirmed LAD, a rare condition with an incidence of 1 per 1 million live births.

What is LAD?

According to the Immune Deficiency Foundation, LAD is a "primary immunodeficiency" that causes patients to be "abnormally susceptible to developing frequent soft-tissue infections, gum inflammation, and tooth loss". The rare genetic disease basically prevents the body's immune system from functioning normally, making children with LAD susceptible to infections that can be fatal. For this life-threatening disorder, early detection and intervention are important, and the only curative treatment is a bone marrow transplantation (BMT) from a healthy donor.

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In this patient's case, a press release states, the mother was the human leukocyte antigen (HLA) compatible with the baby. This is why despite the inherent complications, doctors decided to go ahead with the BMT.

Dr Anoop P, senior consultant -- haematology, paediatric haemato-oncology and BMT, Aster CMI Hospital said about the transplantation procedure: "Due to the complications involved, most treatment centres prefer to perform BMT after a baby weighs at least 10 kg and is completely free of active infection. In this baby's case, this was clearly not an option, as she would have succumbed to the disease."

The doctor added that the team proceeded with transplantation regardless of the baby's age or weight, since it was the only hope for her survival. "The procedure was challenging; our team went ahead with transplantation with cautious optimism. We are delighted that the infant is now recovering well, her immune system is healthy, and she is expected to lead a normal life."