4-Year-Old Girl’s Lifeline: A Rare Medical Journey to Recovery

In a heartwarming tale of hope and resilience, a four-year-old girl from Mauritius, diagnosed with the rare and severe Chediak-Higashi Syndrome (CHS), has received a much-needed lifeline thanks to a timely medical intervention. The life-saving treatment took the form of a bone marrow transplant, known scientifically as hematopoietic stem cell transplantation (HSCT).

Henishka Gohee, who has faced a relentless battle with recurrent infections since infancy, prompted her worried parents to embark on a journey to Apollo Hospitals in Navi Mumbai in search of advanced medical care.

“Chediak-Higashi Syndrome is a genetic immunodeficiency disorder caused by a mutation in the LYST gene,” explained Dr. Kunal Goyal, a consultant haematologist and bone marrow transplant specialist at Kokilaben Dhirubhai Ambani Hospital.

“This mutation severely weakens the immune system, leaving those affected extraordinarily vulnerable to life-threatening infections.”

Children like Henishka not only endure repeated infections but are often marked by symptoms such as oculocutaneous albinism and increased bruising.

Upon arriving at the hospital in January, Henishka underwent thorough evaluations, including tests on her blood and bone marrow, which revealed a troubling sign: her bone marrow was fused into large granules, a clear indication of her condition.

Doctors at Apollo Hospitals asserted that a bone marrow transplant offers the only potential cure for CHS, presenting patients with a chance for a long and fulfilling life.

However, the path to recovery was obscured by the absence of a matched sibling donor, which made the need for alternative solutions all the more pressing.

“The first sign of CHS in Henishka was her lighter skin and greyish hair,” recalled Dr. Vipin Khandelwal, a consultant in Pediatric Hemato-Oncology and Bone Marrow Transplantation at Apollo Hospitals.

“Her story underscores the critical importance of early diagnosis in making a life-saving difference.”

As time was of the essence, the stakes were high. Children diagnosed with CHS face an imminent risk of entering an accelerated phase of the disease, marked by unchecked white blood cell proliferation that can invade vital organs, leading to severe consequences such as persistent fevers, abnormal bleeding, and potentially fatal infections.

“The definitive treatment for CHS is indeed hematopoietic stem cell transplantation,” noted Dr. Khandelwal.

“But when a fully matched sibling is not available, we look to matched unrelated donors or haploidentical transplants as alternative options.

In Henishka’s case, we were fortunate to find a perfect match through the Indian donor registry – a miraculous act of medical generosity that gifted her a new lease on life.”

The months preceding the transplant were fraught with rigorous medical preparations, essential for priming Henishka’s body to accept the healthy new stem cells.

“Transplants are inherently complex procedures, and the risk of infections increases exponentially, especially given her young age. The threat of a fatal infection was always looming,” explained Dr. Goyal.

As anticipated, the days following the transplant were challenging.

Around the 40th day, Henishka developed Grade III gut Graft-versus-Host Disease, a severe condition where the new donor cells attack her own tissues.

On day 58, follow-up blood tests revealed a new infection.

“Each challenge was met with swift and careful medical intervention,” Dr. Khandelwal reassured.

By day 150 post-transplant, tests confirmed successful engraftment of the donor cells, marking a turning point as her immune system began to recover.

Henishka’s inspiring recovery is a testament to the power of precision medicine in pediatric haematology and oncology.

“This young girl’s strength, combined with the skill and dedication of her medical team, has led to an extraordinary result,” commented Arunesh Punetha, Regional CEO of Apollo Hospitals’ Western Region.

“Her journey not only highlights the necessity of early detection and intervention but also the vital role of genetic counselling and specialised care for children afflicted by rare conditions.”

With every step forward in her recovery, Henishka serves as a beacon of hope for families facing similar challenges, reminding the remarkable resilience of children and the profound impact of compassionate medical care.

Henishka’s journey through adversity will surely inspire many, showcasing the incredible spirit of a young warrior. Wishing Henishka a future filled with joy, health, and endless possibilities.

Source: Hindustan Times