A four-year-old girl from Maldives experienced a miraculous recovery from Hyper IgD syndrome, a rare genetic disorder, through the administration of Canakinumab, a human anti-monoclonal antibody, at a private hospital in the city.
Doctors claimed this marked the first-ever use of the drug in India. Hyper IgD syndrome, a debilitating condition affecting the immune system, often goes undiagnosed owing to its rarity and lack of awareness. Those diagnosed with this syndrome suffer from recurrent fevers, joint inflammation, abdominal pain, rash, and swollen lymph nodes, hindering their normal lives.
Chandrika Bhat, Pediatric Rheumatologist at Rainbow Children’s Hospital, Marathahalli, who administered the drug to the girl, said this treatment offers hope to patients battling the rare disease. The girl was diagnosed with this condition when she was six months old. Her condition was initially mistaken for common infections, leading to a cycle of repeated antibiotic treatments. Access to genetic testing played a pivotal role in identifying Hyper IgD syndrome at an early stage, the doctor said.
The girl experienced recurring fevers and a significant drop in her hemoglobin levels, reaching as low as 3 or 4, whereas the normal range is around 12. Additionally, her platelet count would decrease to 20,000-30,000, the doctor said.
“Due to the impact on her immune system, which was not initially considered the cause, the correct diagnosis was delayed. She was treated with antibiotics and remained in the intensive care unit until the involvement of rheumatology specialists. It was decided to administer medication to regulate her immune system while awaiting the results of genetic testing,. Once the test results were received, the diagnosis was confirmed,” Dr. Bhat said.
Recognising the limited treatment options available in India, doctors embarked on a mission to explore alternative solutions. “Canakinumab has shown remarkable success in managing Hyper IgD syndrome globally. However, in India, the drug was not readily available, adding to the challenges faced by the medical team. With the help of patient advocacy groups and international collaboration, we secured the import of the drug and administered it,” she said.
Following the initiation of Canakinumab therapy, the child displayed a remarkable recovery, achieving remission from recurrent fever episodes and experiencing an exponential improvement in her quality of life. “The reduction in steroid dependency and the switch from daily injections to a monthly dose of Canakinumab transformed her life, allowing her to participate in normal daily activities. She needs a minimum of six doses and has been given three doses so far. The cost of the drug is ₹3 lakh for a vial of 150 mg. We will take a call if she needs more doses after the six doses,” the doctor added.
