Rare diseases are individually uncommon but collectively affect millions of children worldwide. Marking Rare Disease Day, Mumbai’s Bai Jerbai Wadia Hospital for Children organised a patient support group programme bringing together children affected by rare conditions, their families and medical specialists in a rare platform for interaction, guidance and shared experiences.
The event brought together more than 100 children and their parents and involved specialists from 10 different paediatric departments who conducted dedicated sessions on specific rare diseases. Doctors used the platform to explain symptoms, treatment pathways and long-term care needs, while also helping families connect with others facing similar challenges.
Rare diseases are generally defined as conditions affecting a small percentage of the population, often due to genetic causes. According to experts, their prevalence may range from one in 10,000 to one in 200,000 children. Globally, more than 7,000 rare diseases have been identified, many of which are chronic, complex and require lifelong medical management.
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Some conditions remain extremely rare. Congenital hyperinsulinism, for instance, occurs in roughly one in 100,000 children and results in dangerously low blood sugar due to excessive insulin production. Cystic fibrosis, another inherited disorder that affects the lungs and digestive system, occurs in approximately one in 10,000 to 40,000 children worldwide.
At the support group meeting, specialists conducted sessions on a wide range of rare conditions. Paediatric cardiologists discussed cardiomyopathy, while immunology experts explained agammaglobulinemia. The genetics team spoke about inborn errors of metabolism, and nephrologists addressed atypical hemolytic uremic syndrome.
Pulmonology specialists interacted with children diagnosed with cystic fibrosis, while the haematology-oncology and bone marrow transplant team discussed Fanconi anaemia. The endocrinology department led discussions on congenital hyperinsulinism, and neurologists conducted sessions on genetic epilepsy syndromes.
Doctors from the gastroenterology and hepatobiliary surgery departments also interacted with children diagnosed with tyrosinemia and Wilson disease, including those who had undergone liver transplants. Each session focused on early diagnosis, treatment options and the importance of long-term follow-up.
Dr Sudha Rao, medical director at Bai Jerbai Wadia Hospital for Children, said early identification and specialised treatment are crucial for managing rare diseases in children. “Many of these conditions require lifelong monitoring and multidisciplinary care. Early diagnosis can significantly improve outcomes,” she said.
Speaking about congenital hyperinsulinism, Rao explained that babies with the condition are born with neonatal hypoglycaemia caused by excess insulin production. “These children often require lifelong medication, injections and continuous monitoring to maintain safe blood sugar levels,” she said.
The hospital functions as a tertiary referral centre for rare diseases in children, with patients referred from across the country for specialised evaluation and treatment. According to the hospital, it offers facilities ranging from advanced diagnostic testing, including molecular genetic analysis, to complex procedures such as bone marrow, kidney and liver transplants.
Dr Pradnya Bendre, professor and chief of the paediatric solid organ transplant programme, said the hospital aims to ensure that children with rare diseases receive both advanced treatment and long-term follow-up care.
Dr Minnie Bodhanwala, CEO of Bai Jerbai Wadia Hospital for Children, said managing rare diseases requires not only clinical expertise but also institutional commitment. She added that the hospital continues to expand its infrastructure, technology and specialist services to improve care for children with complex conditions.
The programme was attended by Padma Shri awardee Dr Armida Fernandez, a neonatologist known for establishing Asia’s first human milk bank in 1989. She appreciated the hospital’s initiative to create a support platform for families dealing with rare diseases, calling it an important step in combining medical care with emotional support.
Events like these, doctors say, are crucial not only for raising awareness but also for helping families navigate the long and often uncertain journey of living with rare diseases.