Baby with rare genetic disorder gets new life

COIMBATORE: When two-anda-half-month-old Viyan was wheeled into the

Kovai Medical Centre and Hospital

in early March, he had fever, critical anemia and was bleeding from his mouth and abdomen. Doctors suspected he was suffering from a rare life-threatening genetic disorder known as primary hemophagocytic lympho-histiocytosis (HLH).


On Wednesday, the

baby

, now 5.5 months old, was discharged after a three-month admission to the intensive care unit and treatment that involved an immune cell-depleted haploidentical (half matched)

stem cell transplant

.

The HLH is a condition in which the

body

’s immune system is not able to kill specific pathogens, but produces a selfinjurious pattern of inflammation. It is an exuberant response of the immune system leading to inflammation, but does not result in the pathogen getting eliminated. It involves causing a cytokine storm, which the immune cells start attacking the body’s normal blood cells and bone marrow, in particular. In Viyan’s case, the disorder managed to functionally paralyse his bone marrow.

In fact, the bacterial infection entered through the baby’s skin, from his right groin, and rapidly spread to his abdominal wall, making it look he had suffered bad burn injuries. The treatment included a surgery to remove the infected portion of the skin completely to stop its spread and grafting skin from his own body to follow it up.

Doctors then put him on antibiotics to control the infection and then began the process to perform a stem cell transplant, which was the only way to correct the genetic defect. They had to specifically perform a hematopoietic stem cell transplant, which involved intravenous fusion of stem cells from a donor to reestablish production of white blood cells and red blood cells, and plasma in the baby’s body. Viyan unfortunately had no siblings or an unrelated donor, whose tissue antigen was identical to his. So, the doctors chose to take stem cells from his father to avoid any delay.

For two weeks, both the baby and father were put on immunosuppressants to condition their immune system to lay low. This was to avoid Viyan’s body rejecting his father’s stem cells, which in turn from attacking Viyan’s body, a condition called graft versus host disease. Once doctors had results showing that his father’s stem cells were low on killer “alpha beta T cells and B cells”, they took out his stem cells, further manipulated it to remove remaining such cells, if any, and transplanted them into the baby boy on April 17.

One and half months later, Viyan was discharged as doctors were happy with his blood cell counts. However, the boy would have to remain under close monitoring to see how his body handles any new infection.