To mark Rare Disease Day, Bai Jerbai Wadia Hospital for Children organised a compassionate Patient Support Group Program for children living with rare diseases. The initiative brought together doctors, patients, and families to share knowledge, experiences, and emotional support.
The event featured participation from 10 paediatric speciality departments, each conducting discussions and interaction sessions to guide families on ongoing care and available treatment options. More than 100 children and their parents attended the program, making it a meaningful platform for awareness, expert advice, and community support.
The event was attended by Padma Shri awardee Armida Fernandez as the Chief Guest, along with Dr Sudha Rao, Medical Director, and Dr Pradnya Bendre.
Expert Sessions Across Multiple Specialities
During the program, specialists from different paediatric departments conducted focused sessions on specific rare diseases. These sessions aimed to educate families about diagnosis, treatment pathways, and long-term disease management.
For instance, the Pediatric Cardiology team discussed cardiomyopathy, while Immunology experts explained agammaglobulinemia. Meanwhile, the Genetics department provided insights into inborn errors of metabolism.
Similarly, the Pediatric Nephrology department addressed atypical hemolytic uremic syndrome, and Pulmonology specialists interacted with children living with cystic fibrosis. In addition, the Hematology-Oncology and Bone Marrow Transplant team discussed Fanconi anemia.
The Endocrinology department conducted a session on congenital hyperinsulinism, while the Neurology team addressed genetic epilepsy syndromes. Furthermore, the Gastroenterology and Hepatobiliary Surgery department interacted with children affected by tyrosinemia and Wilson disease, as well as those who had undergone liver transplantation.
Each session emphasised early diagnosis, treatment options, long-term monitoring, and the importance of regular follow-ups, helping parents better understand and manage their child’s condition.
Understanding the Burden of Rare Diseases
Speaking about the significance of the initiative, Dr Sudha Rao explained that rare diseases affect approximately 1 in 10,000 to 200,000 children worldwide. Currently, medical science has identified more than 7,000 rare diseases, many of which require early diagnosis and specialised treatment.
She highlighted that some conditions are extremely uncommon. For example, congenital hyperinsulinism occurs in roughly 1 in 100,000 children. In this condition, babies are born with dangerously low blood sugar due to excessive insulin production and require lifelong monitoring and treatment.
Similarly, cystic fibrosis, a serious inherited disorder affecting the lungs and digestive system, occurs in about 1 in 10,000 to 40,000 children globally.
Focus on Congenital Hyperinsulinism
As part of the Endocrinology department’s session, Dr Sudha Rao discussed congenital hyperinsulinism in detail. She explained that children with this condition experience neonatal hypoglycemia, or low blood sugar at birth, because their bodies produce excessive insulin.
Consequently, these children require lifelong medication, regular injections, and continuous monitoring to maintain safe blood glucose levels. Dr Rao also noted that several children with congenital hyperinsulinism and other rare disorders are currently receiving treatment at the hospital.
A Leading Referral Centre for Rare Diseases
Dr Sudha Rao further emphasised that Bai Jerbai Wadia Hospital for Children has developed extensive expertise in diagnosing and treating rare diseases. The hospital functions as a major tertiary referral centre, with children from across India being referred for specialised care.
As per the press release, the hospital provides comprehensive services that begin with early identification and advanced diagnostic testing, including molecular genetic testing, and extend to advanced medical management and long-term follow-up.
In addition, the hospital offers advanced transplant programs, including bone marrow, kidney, and liver transplants, ensuring that children with complex conditions receive holistic care.
Dr Pradnya Bendre, Professor and Chief of the Pediatric Solid Organ Transplant Program, reaffirmed the hospital’s commitment to providing every child with a rare disease the hope of a cure and a healthier future.
Strengthening Care Through Infrastructure and Expertise
Dr Minnie Bodhanwala, CEO of Bai Jerbai Wadia Hospital for Children, highlighted the importance of sustained institutional support in managing rare diseases.
She stated that treating rare conditions requires not only clinical expertise but also continuous investment in infrastructure, technology, and specialist services. According to her, initiatives such as the Patient Support Group reflect the hospital’s dedication to combining medical excellence with emotional and community support for families.
Appreciation for the Initiative
Chief Guest Armida Fernandez, a renowned neonatologist who established Asia’s first human milk bank in 1989, praised the hospital for organising the Patient Support Group initiative.
She expressed deep appreciation for the compassionate effort and said she was moved to witness such a supportive platform for children with rare diseases and their families. The initiative, she noted, provides not only medical guidance but also much-needed emotional encouragement for parents navigating these challenging conditions.