Bengaluru: Seven-month-old baby diagnosed with extremely rare genetic disorder

A seven-month-old baby, Vijayendra, in Bengaluru is suffering from the life-threatening BENTA disease – a rare primary immunodeficiency disorder caused by mutations in the ‘CARD11’ gene. Doctors treating the baby have claimed that only 14 persons in the world till now have been diagnosed with this condition and the only hope for survival for the baby is a blood stem cell transplant.

Owing to the minimal therapeutic intervention available for the BENTA disease, the treatment given to Vijayendra is experimental and based on his reactions to previous treatments, said doctors. At present, the baby is being treated under Dr Stalin Ramprakash, Consultant – Pediatric Hematology, Oncology and BMT, Aster CMI Hospital.

Speaking on his condition and possible treatment outcome, Dr Ramprakash said, “The BENTA disease has affected 14 people in the world, and Vijayendra appears to be the world’s first BENTA patient who was diagnosed at an early stage. Based on his reaction to previous treatments, we think a Stem Cell Transplantation is his best chance at survival. For a successful stem cell transplant, Vijayendra urgently needs a matching blood stem cell donor.”

DKMS-BMST Foundation India, a Bengaluru-based blood stem cell registry, is coordinating the search for a matching donor for Vijayendra.

Children of a parent who carries a ‘CARD11’ mutation have a 50 per cent chance of inheriting the mutation. The main symptoms include spleen enlargement (splenomegaly) and frequent ear, sinus, and lung infections early on in life.

“In India, only 0.04% of the population is registered as potential donors owing to lack of awareness and apprehensions around blood stem cell donation. We encourage people to come forward and register themselves online as a potential donor,” said Patrick Paul, CEO, DKMS-BMST.

The foundation has launched a virtual drive across India to enlist people as potential donors.

Vijayendra’s mother Rekha said that she was devastated to see her son undergoing so much pain. “Being a mother, I feel devastated to see my son going through so much pain and the only way he can survive is a Stem Cell Transplant from a matching donor. The baby was diagnosed with the BENTA disease at birth and since then he is undergoing treatment,” she told indianexpress.com

Talking about the chances of survival of the baby, Paul said, “We cannot accurately predict what will be the outcome of the treatment. A report stated that three out of four children in India diagnosed with the disease have died. This family has already lost one child to the same disease. We expect the stem cell transplant to cure this disease. Our organisation received a request from the family to search for a donor in the last week of December 2021.”

Interested donors between 18-50 years can register through the online portal of the foundation. Once the form is filled out, a Do-It-Yourself (DIY) swab kit will be delivered to the potential donors.

“Once the kit is received, tissue samples from inside the cheek should be taken with the three cotton swabs provided in the kit. The DKMS laboratory will then analyze the tissue type and the details will be available in the global search registry for blood stem cell donors. After a match is made, blood stem cells will be obtained from the bloodstream of the donor using a procedure called Peripheral Blood Stem Cell Collection, which is like a blood platelet donation wherein only the stem cells are taken. This is a very safe, non-surgical outpatient procedure,” the foundation said.