NU Hospitals Achieves Successful Outcome in Rare DIDMOAD (Wolfram) Syndrome

BusinessWire India
Asansol (Kolkata)/ Murshidabad (Siliguri) [West Bengal]/ Bangalore, Mysore (Karnataka) [India], March 30: NU Hospitals began treating Divya (name changed) on January 20th, 2024. A young girl living with the rare genetic condition DIDMOAD Syndrome (Wolfram Syndrome), she first came to NU Hospitals at the age of twelve. She was also living with significant hearing and vision impairment, which made her care journey quite sensitive and complex. This marked an important turning point in her journey. At its Bengaluru Rajajinagar branch, a dedicated team from Paediatric Urology and Paediatric Nephrology came together to understand her condition and plan the right course of care. From the very beginning, the focus was simple: to help Divya feel better and live more comfortably. With timely intervention and a well-coordinated approach, the NU Hospitals team worked to stabilise her condition, protect her vital organs, and support her towards a safer, more stable quality of life.

Divya's medical journey began at the age of seven when she was diagnosed with insulin-dependent diabetes mellitus. What initially presented as a chronic but manageable condition soon evolved into a far more complex clinical scenario. Over time, she developed additional symptoms such as frequent urination, abdominal pain, and repeated urinary infections. These symptoms slowly became severe and difficult to manage.
Despite multiple consultations and treatments for a suspected bladder condition, her condition remained unresolved. Realising the need for specialised treatment, her family sought advanced care at NU Hospitals, Bengaluru, following a medical referral. This decision changed the course of her care.
At NU Hospitals, Divya underwent a thorough evaluation under the care of Dr. Prasanna Venkatesh M K, MBBS, MS, DNB (Gen-Surgery), DNB (Urology), Fellow (Paediatric Urology), Sr. Consultant Paediatric Urologist, Robotic & Renal Transplant Surgeon & Managing Director - NU Hospitals, Bengaluru. After assessment, she was diagnosed with DIDMOAD Syndrome, also known as Wolfram Syndrome, a rare genetic condition.
DIDMOAD stands for a group of health conditions such as Diabetes Mellitus, Diabetes Insipidus, Optic Atrophy (vision loss), and Deafness. These conditions progress in stages and need close, coordinated medical care.
This diagnosis finally brought clarity to the symptoms Divya had been experiencing over the years. It explained her loss of vision and hearing. It also helped her doctors at NU Hospitals plan the right course of treatment for her.
Further tests showed that her bladder was not functioning properly. Divya was unable to contract and empty urine effectively. A condition, called detrusor underactivity, had started affecting her kidneys as well. Divya was placed on a structured follow-up plan at NU Hospitals, with regular monitoring of her kidney and urinary health. During one such routine visit, her kidney function suddenly worsened. Her creatinine levels increased, signalling a serious problem, requiring immediate medical attention.
The team at NU Hospitals promptly performed a bladder decompression through urethral Foley catheterisation. This reduced pressure on her kidneys and helped improve her condition over the next few weeks. Over the following weeks, her creatinine levels stabilised, avoiding further kidney damage.
However, a long-term solution was still needed.
In standard paediatric practice, children with bladder dysfunction are often trained in Clean Intermittent Catheterisation (CIC), a technique that allows regular bladder emptying every few hours. In Divya's case, this approach was not feasible due to her visual and auditory impairment. It limited her ability to communicate or perform the procedure independently. Long-term catheter use was also ruled out due to the high risk of infection and other complications.
Faced with these constraints, the multidisciplinary team at NU Hospitals came to the conclusion to perform an ileal conduit urinary diversion. This complex procedure involved isolating a small segment of her intestine and connecting it to the ureters, creating a new pathway for urine to exit the body through an opening in the abdominal wall. An external collection system was then attached to safely manage urinary drainage.
The NU Hospitals team made a decision to perform an ileal conduit urinary diversion. A small part of her intestine was used to create a new path for urine to pass out of her body into an external bag.
This solution was chosen to protect her kidneys and provide a safer, long-term option.
The surgery was successful, but her recovery was not easy. Divya developed serious complications after the procedure. Her sodium levels became very high, and her intestines temporarily stopped working. She required intensive care for over two weeks. During this time, she was closely monitored and supported with specialised nutrition and treatment.
Despite these challenges, the NU Hospitals team continued to manage her condition carefully. Step by step, she began to recover. Her sodium levels improved, her digestion returned to normal, and her overall condition stabilised. After a hospital stay of about three weeks, she was discharged in stable condition.
Today, Divya continues to do well. Her kidney function has recovered, and the ileal conduit is functioning effectively, reducing the risk of further complications. She remains under regular follow-up at NU Hospitals, ensuring her health remains stable.
"This case underscores the importance of multidisciplinary collaboration in managing rare and complex paediatric conditions," said Dr. Prasanna Venkatesh M K, MBBS, MS, DNB (Gen-Surgery), DNB (Urology), Fellow (Paediatric Urology), Sr. Consultant Paediatric Urologist, Robotic & Renal Transplant Surgeon & Managing Director - NU Hospitals, Bengaluru. "With expertise spanning paediatric urology, paediatric nephrology, anaesthesia, critical care, nutrition, and nursing, we were able to navigate a highly challenging clinical course and deliver a positive outcome. We are honoured to have been entrusted with her care."
Divya's journey reflects not only the complexities associated with rare genetic disorders but also the resilience of patients and families who navigate such challenges with determination. It highlights the critical role of early referral, accurate diagnosis, and specialised intervention in altering the course of complex diseases.
NU Hospitals continues to remain at the forefront of advanced urological and nephrological care, committed to delivering patient-centric, evidence-based treatment for even the most challenging medical conditions.
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