Bone Marrow Transplant Offers Hope for Four-Year-Old with Rare Disorder
A four-year-old girl from Mauritius received a lifesaving bone marrow transplant for Chediak-Higashi Syndrome, a rare immunodeficiency disorder, after experiencing severe recurrent infections. Without a matched sibling donor, she was fortunate to find a perfect match via the Indian donor registry. The transplant showed promising results, indicating the importance of early diagnosis and specialized care for such rare diseases.
A four-year-old girl from Mauritius diagnosed with Chediak-Higashi Syndrome (CHS), a rare immunodeficiency disorder, received life-saving treatment through a bone marrow transplant, or hematopoietic stem cell transplantation (HSCT). Dr. Kunal Goyal, consultant haematologist at Kokilaben Dhirubhai Ambani Hospital, noted that CHS results from a mutation in the LYST gene, significantly impairing the immune system and increasing susceptibility to severe infections.
Henishka Gohee, the child, suffered from recurrent infections since infancy. Her parents sought advanced medical care at Apollo Hospitals in Navi Mumbai, where she underwent extensive testing in January. The evaluation confirmed the presence of CHS due to the abnormal appearance of her bone marrow, which exhibited large granules.
Bone marrow transplantation is the sole curative option for CHS, offering the potential for long-term survival. However, Henishka faced challenges due to the absence of a matched sibling donor, prompting the need for an alternative donor through the Indian donor registry. Dr. Vipin Khandelwal emphasized the significance of early diagnosis, as it can prevent the escalation of life-threatening complications.
The rapid progression of CHS can lead to severe health issues, including uncontrolled white blood cell proliferation and infection risks. Dr. Khandelwal stated that HSCT is the primary treatment for CHS, and successful donor matching can provide a valuable second chance for affected children. A matched donor was ultimately found, significantly improving Henishka’s prospects.
The months leading to the transplant required thorough medical preparation to help Henishka’s body accept the new stem cells. Dr. Goyal noted that the risk of infection remained heightened due to her young age. Following the transplant, Henishka faced numerous complications, including Grade III Graft-versus-Host Disease approximately 40 days post-procedure.
Despite these challenges, the medical team managed her conditions with diligent care. By the 150th day post-transplant, tests revealed complete donor chimerism, confirming that the transplanted cells successfully integrated into her system. Arunesh Punetha, regional CEO at Apollo Hospitals, praised the child’s determination and the expertise of her medical team, highlighting the importance of specialized care for rare medical conditions.
In conclusion, timely medical intervention through a bone marrow transplant has provided a lifeline for a four-year-old girl suffering from Chediak-Higashi Syndrome. This case underscores the necessity of early diagnosis, the significance of finding matched donors, and the critical nature of specialized medical care in treating rare disorders. The successful treatment exemplifies the potential for long-term survival with appropriate medical support.
Original Source: www.hindustantimes.com
