Doctors at Fortis Hospital Shalimar Bagh successfully treat 2 Kids suffering from rare reported congenital conditions

Doctors at Fortis Hospital Shalimar Bagh successfully treated 2 children with rare congenital conditions-- Congenital neutropenia, a rare condition that increases the risk of repeated infections and Agammaglobulinemia, an inherited disorder in which a person has a very low level of protective immune system proteins called immunoglobulins. The team of doctors led by Dr Arvind Kumar, Director & HOD, Paediatrics, Fortis Hospital Shalimar Bagh treated the patients with specific therapies and a well-curated approach. They recovered from fever and recurrent infections, gained weight and their appetite also improved.
A 4-year-old girl child was suffering from Congenital neutropenia, whose worldwide incidence is 2 to 3 cases per million population. Congenital neutropenia is a cluster of genetic disease and causes low levels of neutrophils. These conditions can lead to recurrent infection of skin, sinuses, stomatitis and infection of lung, bone and nervous system. She was presented to the hospital with fever alongwith multiple oral ulcerations. The patient had received treatment by multiple doctors, was admitted to hospitals and treated with antibiotics, but there was no improvement in her condition. Detailed analysis of her previous medical reports revealed that on multiple occasions her Neutrophil counts were 100 to 500 (Normal counts for her age >1500) which triggered a look for rare disease of congenital neutropenia. A genetic testing was conducted as it is an useful tool in the diagnosis and management of these group of inherited diseases. The child received a specific therapy -- Granulocyte colony stimulating factor-- a medication which increases the white blood cells by stimulating bone marrow, and clinical condition of the child showed dramatic improvement.
In another instance, Dr Kumar treated a 6-year-old male with a rare disease of Agammaglobulinemia (Burtons Disease). The child was suffering from high-grade fever, cough, purulent eye, ear discharge and loose stools. Close look at the previous reports showed child was admitted with different doctors with pneumonia, treated multiple times for ear infections, loose stool. He had infections with rare bacteria and viruses. Finally, the team of doctors treated the child with the help of Intravenous immunoglobulin therapy to fight infections and the child gradually recovered. The therapy for this disease works by providing the body with antibodies that it cannot produce on its own, which thus prevent infection. The therapy is given every 3 weeks and it's to be used life-long. The worldwide incidence of this rare disease is 1:190,000 male births. From India, about 50-odd cases have been reported so far. 
Talking about the rare conditions, Dr Arvind Kumar, Director & HOD, Paediatrics, Fortis Hospital Shalimar Bagh said, “In our daily life, we come across children, who fall sick with fever, mild cold, cough, sinus infection, ear infection, urinary tract infection and infections of the throat, recurrent diarrhea etc. A majority of these children need symptomatic treatment with paracetamol and sometimes antibiotics. However, rarely a child may have recurrent infections which are difficult to treat. These children would require frequent hospital admissions and the use of multiple antibiotics. They might also require either Hematopoietic Bone Marrow Transplant or treatment with specific agents. These patients have poor growth too and thus they require investigations to rule out rare immunity disorders known as primary immune deficiency disorder. In congenital neutropenia, if hemopoietic stem cell transplant is done, only then the treatment with injection will stop. However, in Agammaglobulinemia, the treatment is lifelong. They can live a better life free from infections and thrive well if timely diagnosis is done.”