In a remarkable story of resilience and medical determination, a 37-year-old woman has shown extraordinary strength in battling a rare inherited genetic disorder at AIIMS Jodhpur, a condition that has affected multiple members of her family.

Diagnosed at the age of 24, the woman has been living with a complex familial syndrome that impacts several organs, including both kidneys, having previously undergone surgeries for her eye and brain. Despite the immense challenges, she has remained proactive about her health, adhering strictly to medical advice and attending regular follow-ups.

Her condition led to the development of multiple tumors in both kidneys. Three years ago, she underwent surgery on her right kidney, during which 9 tumors were removed. Recently, she successfully underwent another surgery at AIIMS Jodhpur for tumors in her left kidney, where 8 tumors were removed successfully.

According to her treating urologist, Dr. Gautam Ram Choudhary, Additional Professor in the Department of Urology at AIIMS Jodhpur, the patient’s condition is part of a rare inherited genetic syndrome that requires continuous monitoring. “Such patients need regular check-ups so that timely intervention can be carried out,” he explained.

Dr. Choudhary further noted that kidney tumors associated with this condition have a high likelihood of recurrence. “Smaller tumors are observed, but once they exceed 3 cm, surgical removal becomes necessary. The challenge lies in removing all visible tumors while preserving as much healthy kidney tissue as possible,” he said. He added that robotic surgery is often preferred due to its precision and the advantage of minimizing large surgical scars and blood loss.

Dr. A. S. Sandhu, Professor and Head of the Department of Urology at AIIMS Jodhpur, emphasized the importance of a comprehensive care approach for such patients. To address this exact need, the department has established a specialized facility named the “Clinic for Familial and Syndromic Genito-Urinary Cancers.”

"This clinic brings together multiple specialties under one roof,” Dr. Sandhu said. “It offers integrated care, advanced diagnostics, and counseling services. Multidisciplinary meetings are conducted whenever necessary, ensuring patients receive well-rounded treatment without the burden of multiple hospital visits."

The surgical team also included Dr. Mahendra Singh (Additional Professor), Dr. Shivcharan Navriya (Additional Professor), and Dr. Deepak Prakash (Associate Professor).

The patient’s journey stands as a testament to the power of early diagnosis, regular monitoring, and coordinated medical care. Her determination continues to inspire both healthcare professionals and others facing similar complex medical challenges.

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