High-risk transplant saves 7-yr-old with rare disorder
X-ALD is a genetic condition caused by the buildup of very long-chain fatty acids in the brain and spinal cord, leading to progressive neurological deterioration, sensory loss and death if left untreated. Early diagnosis and intervention are crucial for survival, doctors say. The boy has already lost his elder sibling to the same disease.
Upon diagnosis by the hospital's genetics team, led by Dr Ratna Puri and Dr Sunita Bijarnia, he was referred to the pediatric hematology, oncology, and bone marrow transplant (BMT) unit.
However, the transplant posed significant challenges as no fully matched donor was available within the family or in global registries.
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Eventually, his father was chosen as a half-HLA matched donor. Serious complications followed the transplant. The child developed grade 4 graft-versus-host disease (GVHD), which caused widespread blistering and skin peeling. "There were moments when hope seemed to fade," said Dr Manas Kalra, a senior member of the treating team said, while adding that the boy's and his family's courage saw them through.
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The child also developed a severe adenovirus infection that was unresponsive to conventional treatment. The infection significantly prolonged his hospital stay. As his new immune system began to develop, doctors were able to control the infection. Now, over 200 days post-transplant, the boy achieved full donor cell engraftment and is showing early signs of neurological recovery. He will remain under close follow-up in the coming years.
While this child was not born of a consanguineous marriage, doctors stressed that such unions significantly increase the risk of inherited disorders like X-ALD. They emphasised the need for early genetic screening, improved public awareness, and stronger donor registry access.
Doctors also highlighted the financial burden of such procedures and the need for wider support under rare disease programmes. "This success shows what is possible with timely diagnosis, advanced care, and community support," said Dr Kalra.
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