Maldivian girl makes recovery from rare genetic disorder in India

The hands of an individual diagnosed with Hyper IgD syndrome, a debilitating genetic condition affecting the immune system.

A Maldivian girl made a miraculous recovery from a rare genetic disorder through a brand-new treatment provided by a private hospital in India.

The four-year-old girl suffers from Hyper IgD syndrome, a debilitating condition affecting the immune system, which often goes undiagnosed due to its rarity and lack of awareness. Patients with the syndrome experience recurrent fevers, joint inflammation, abdominal pain, rash, and swollen lymph nodes, hindering their normal lives.

She was treated at Rainbow Children’s Hospital where she was administered Canakinumab, a human anti-monoclonal antibody.

The disorder reportedly caused the girl to experience recurring fevers and a significant drop in her hemoglobin levels, reaching as low as three or four. The normal range is 12. Her platelet count would drop between 20,000 to 30,000.

The Hindu, cited Dr. Chandrika Bhat, Pediatric Rheumatologist at Rainbow Children’s Hospital who administered the drug to the girl, saying 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 explained further.

Dr. Bhat detailed that the correct diagnosis was delayed due to the impact on her immune system, which was not initially considered the cause. As a result, he said 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,” he added.

Dr. Bhat said the treatment offers hope to patients battling the rare disease. 

Despite limited treatment options available in India for the syndrome, the medical team at Rainbow Children’s Hospital embarked on a mission to explore alternative solutions. Canakinumab, a drug not readily available in India, was shown to achieve remarkable success in managing Hyper IgD syndrome globally. The medical team managed to successfully import the drug for administration with the help of patient advocacy groups and international collaboration.

Since its administration, the girl displayed a remarkable recovery, achieving remission from recurrent fever episodes and experiencing a significant 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,” Dr. Bhat was reported to have said to The Hindu.

She has already been given three doses of the minimum of six doses of the drug which costs 300,000 Indian rupees for a vile of 150 miligrams.