Two children with rare autoimmune diseases get a new lease of life

The girl, who was admitted to Aster CMI Hospital with alarming breathlessness and significant pallor, was diagnosed with Wegener’s Granulomatosis (now known as Granulomatosis with Polyangiitis or GPA), a rare autoimmune condition that causes spontaneous bleeding in the lungs, leading to acute respiratory failure.

Two children - a seven-year-old girl and a 15-year-old boy - diagnosed with rare autoimmune diseases got a new lease of life following timely intervention by doctors in separate private hospitals in the city.

The girl, who was admitted to Aster CMI Hospital with alarming breathlessness and significant pallor, was diagnosed with Wegener’s Granulomatosis (now known as Granulomatosis with Polyangiitis or GPA), a rare autoimmune condition that causes spontaneous bleeding in the lungs, leading to acute respiratory failure.

Due to the severity of her condition, doctors put her on ECMO (Extracorporeal membrane oxygenation), a form of life support for those with life-threatening illnesses or injuries that affect the functioning of their heart or lungs. Despite the complexities of ECMO, particularly for a seven-year-old child, doctors with the parents’ consent, deemed it necessary to stabilise her heart and lung function. “ECMO was our best option to support her vital functions and give her a fighting chance,” said Arun V., Lead Consultant for ECMO. 

As the treatment progressed, complications arose due to prolonged ventilation, which included severe sepsis and the need for tracheostomy care. The Medical ICU team managed the pulmonary hemorrhage, acute ventilatory crisis, and kidney injury that were part of the illness, to keep the child stable. To address the underlying autoimmune disease, the child was started on immunomodulation and plasmapheresis, which helped in controlling the disease progression.

Over two months, including 17 days on ECMO, the child’s condition improved, and she was discharged last month, said Karthik Arigela, Consultant in Pediatrics and Paediatric ICU.

In another case, a 15-year-old boy found hope with a life-changing treatment for his rare disease at Rainbow Children’s Hospital. The boy battled recurrent diarrhoea and blood in the stools since the age of nine months. After years of hospital visits and extensive testing, he was finally diagnosed with a rare immune disorder called CHAPLE syndrome. The diagnosis was through genetic testing when he was 14.

CHAPLE syndrome (Complement Hyperactivation, Angiopathic thrombosis, and Protein-Losing Enteropathy), a chronic and life-threatening disorder, involves dysregulation of the immune system, leading to symptoms such as recurrent diarrhea, blood in the stools, bowel inflammation, malabsorption, anemia, loss of protein in stools leading to swelling of the body, frequent infections and a tendency for easy clotting of blood.