In a remarkable medical journey, four-year-old Henishka Gohee from Mauritius has overcome the life-threatening Chediak-Higashi Syndrome (CHS) through a successful bone marrow transplant at Apollo Hospitals, Navi Mumbai. This rare genetic disorder severely compromises the immune system, making patients highly susceptible to infections.
Understanding Chediak-Higashi Syndrome
CHS is an autosomal recessive disorder caused by mutations in the LYST gene, leading to defects in lysosomal trafficking. Clinically, it manifests as oculocutaneous albinism, immunodeficiency with frequent pyogenic infections, and neurological impairments. Without intervention, patients face recurrent infections and an accelerated phase characterized by uncontrolled proliferation of white blood cells, leading to severe complications and potential organ failure.
Henishka’s Medical Journey
Since infancy, Henishka battled recurrent infections, prompting her parents to seek advanced medical care in India. Upon evaluation at Apollo Hospitals in January, blood and bone marrow examinations revealed large granules, a hallmark of CHS. The absence of a matched sibling donor necessitated an alternative approach for treatment.
The Role of Bone Marrow Transplantation
Bone marrow transplantation (BMT), or hematopoietic stem cell transplantation (HSCT), is the definitive treatment for CHS. It replaces defective bone marrow cells with healthy ones, restoring immune function and offering the potential for long-term survival. In Henishka’s case, a perfect match was found through the Indian donor registry, exemplifying medical generosity and providing her a new lease on life.
Challenges and Triumphs Post-Transplant
The months leading up to the transplant involved extensive preparation to condition Henishka’s body for the healthy stem cells. Post-transplant, she faced significant challenges, including Grade III gut Graft-versus-Host Disease (GVHD) around day 40, where donor cells attack the recipient’s tissues. By day 58, blood reports indicated an infection. Each hurdle was meticulously managed with prompt medical interventions. By the 150th day post-transplant, tests confirmed complete donor chimerism, indicating successful engraftment and reconstitution of her immune system.
The Importance of Early Diagnosis and Specialized Care
Henishka’s journey underscores the critical role of early diagnosis and specialized care in managing rare genetic disorders like CHS. Early intervention can prevent the progression to the accelerated phase, characterized by uncontrolled white blood cell proliferation, leading to severe complications. Genetic counseling and awareness are vital for families affected by such rare conditions.
A Bright Future Ahead
Today, Henishka embodies resilience and hope. Her successful treatment not only highlights advancements in medical science but also the profound impact of global donor registries and the selflessness of donors worldwide. Her story serves as an inspiration, emphasizing the importance of timely medical intervention and the collaborative efforts of the global medical community in combating rare diseases.
