Bone marrow transplant cures 13-month-old boy of rare genetic disorder

Bai Jerbai Wadia Hospital for Children in Mumbai has successfully performed a life-saving bone marrow transplant surgery on a 13-month-old boy from Hyderabad with severe combined immunodeficiency (SCID).

Mohammed Khizr was born to Raziya Sayed (29) and Karrar Ali (33) on December 24, 2019. Their happiness was short-lived as Mohammed would get fever and cough every alternate day. After giving medications prescribed by a paediatrician, his fever and cough would subside for a few days. Several tests conducted in a local hospital failed to provide a correct diagnosis.

The patient was referred to Wadia hospital where he was diagnosed with SCID in September 2020, Dr. Prashant Hiwarkar, a bone marrow transplant physician, said.

Immune deficiency

“The patient was evaluated for immune deficiency in his first admission in August 2020 while in the paediatric ward. He was diagnosed with SCID on September 4. It is an inherited primary immunodeficiency disease that is seen in infancy; a genetic defect that affects T cells. Children with SCID have virtually no immune system to fight common viruses and fungus and die before their first birthday without a bone marrow transplant,” he said.

On admission, he was diagnosed with pneumocystis pneumonia, a rare severe infection leading to acute respiratory distress syndrome. He was on the ventilator for 14 days and developed life-threatening viral and bacterial infections. The patient was stabilised with the help of anti-microbial medications.

Biggest challenge

“The biggest challenge in any SCID condition is that it is diagnosed late. Even in this case, by the time the baby reached us he was suffering from two life-threatening infections. So, our first hurdle was to control the infections. If the medical procedure of bone barrow transplant is done without controlling the infection, the transplant is less likely to be successful,” Dr. Hiwarkar said.

Mohammed was shifted to the bone marrow transplant unit after achieving good control of infections. All the organs were evaluated before transplant and were found to have normal function. After treating with chemotherapy for four days, he underwent a successful stem cell transplant at 11 months of age from his HLA-matched grandmother. The new immune system from the transplanted stem cells started to function after 16 days, and he was finally discharged on Wednesday after being in the transplant unit for more than two months.

It takes about six months to a year for complete recovery of T cells. The parents have been advised to avoid contact with those who have a viral illness and stop going to crowded places till complete recovery of his immune system.

Dr. Ambreen Pandrowala, an immunologist with the hospital, said, “This is the second child with SCID that we have successfully transplanted under one year of age. It is important for all children with immunodeficiencies to have an early referral to a centre familiar with immunodeficiency transplant.”

Ms. Sayed, a dentist, said their world turned upside-down when Mohammed was diagnosed with SCID. “We were in tears and could not see our baby in pain. He is now achieving milestones of his age. He was 5.7 kg when he got admitted and now, he is 8.1 kg and much more confident as he tries to walk by holding onto furniture. Frequent fever and non-subsiding cough for three months was the major issue that we had been facing. We will go back to Hyderabad when he does not require frequent hospital follow-up,” she said.

Lack of awareness of primary immunodeficiency disorders amongst primary health care physicians contributes to the delayed diagnosis. When a child develops serious infection or multiple episodes of infections, a diagnosis of immunodeficiency disorder should be considered.

According to doctors, one in one lakh people can be immunodeficient and SCID is even more rare. Life-threatening immunodeficiencies can be completely cured with a bone marrow transplant.

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Printable version | Apr 15, 2021 8:27:03 AM |

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