Narayana Health City saves the life of a 1.5 year old toddler suffering from Niemann-Pick disease type C through BMT

Niemann-Pick disease type C is a rare disease with an estimated incidence of 1 in 1,20, 000

Narayana Health City, Rare Disease Day, Niemann-Pick, Baby Mehraj, Cytomegalovirus, Haematology, Sunil Bhat

On the occasion of Rare Disease Day, Narayana Health City has added another feather to its illustrious list of achievements in treating rare diseases by curing a 1.5 year old baby from Niemann-Pick disease type C. Niemann-Pick disease type C is a very rare genetic disorder characterized by the inability of the body to transport cholesterol and other fatty substances (lipids) inside the cells in our body. The condition leads to abnormal accumulation of lipids within various tissues of the body, including brain tissues. Niemann-Pick disease type C is a rare disease with children dying in first decade of life. The child was saved from the life threatening condition through bone marrow transplant. The patient becomes the 50thchild to be cured from rare diseases through bone marrow transplant.

Hailing from Kolkata, Baby Mehraj had a normal birth. However, within few weeks of his birth his parents started feeling something usual about his abdomen. They took him to a hospital in Kolkata. On diagnosis it was found that he was having an abnormal enlargement of the abdomen, liver and spleen. Further, owing to his poor health he started developing respiratory problems and had to be admitted in the intensive care unit. His critical condition made the hospital to do further tests. The tests revealed the root cause of all his ailments. It was identified that that he was suffering from Niemann Pick Type C, a rare and fatal condition along with a viral infection called CMV (Cytomegalovirus). After a prolonged battle with the illness he finally got discharged from the hospital but was advised to be kept on high oxygen supplements. Despite the medications his condition was getting worse. In fact, it started affecting the functioning of his liver and other organs. His growth and development was also becoming stunted. This alarmed the family and they reached out to Narayana Health City.

The baby was admitted under the aegis of Dr. Sunil Bhat, Director & Clinical Lead – Paediatric Oncology, Haematology and Bone Marrow Transplant at Mazumdar Shaw Cancer Centre, Narayana Health City and team. The doctor and team did a thorough evaluation and advised bone marrow transplant. As there was no HLA matched family donor, an unrelated donor search was initiated. Fortunately there was a fully matched unrelated donor in Datri Registry and the doctors’ successfully performed bone marrow transplant on the 13 months old Mehraj. Now, post-transplant the child is leading a normal life.

Elaborating about the case, Dr Sunil Bhat, Director & Clinical Lead – Paediatric Oncology, Haematology and Bone Marrow Transplant at Mazumdar Shaw Cancer Centre, Narayana Health City, said, “Apart from finding a matching donor, the biggest challenge in this case was the child’s condition. The functioning of his lungs and liver were very badly affected by the disease. In fact, we had to keep the child on respiratory support throughout the transplant procedure. Now, the child is not only cured from the disease, his lung and liver functioning has also completely recovered. His growth and development are back on track as well.”

“In India more than 50% of those suffering from rare diseases are children and many of them are curable. In fact, many a treatment modalities like bone marrow transplant are available to treat these children. But, owing to lack of awareness, poor diagnosis and availability of affordable quality treatment a significant percentage of them succumb to death calling for greater awareness about the conditions and the treatment modalities.”

Sharing his joy, father of the patient said, “We were shattered when we got to know that our son has a rare disease. In fact, we had lost all hope of saving him until we met Dr. Sunil Bhat and team. We are extremely thankful to doctors and the support staff for saving our son from the life-threatening condition.”