BENGALURU: A seven-month-old baby boy in Bengaluru is one among 14 people in the world to have been diagnosed with a rare genetic disease called BENTA. A primary immunodeficiency disorder caused by mutations in the CARD11 gene, it is characterised by spleen enlargement (splenomegalia) and frequent ear, sinus and lung infections early in life. His only chance at survival is a stem cell transplant.
Due to minimal therapeutic intervention available for BENTA disease (B-cell expansion with NF-κB and T-cell anergy), the treatment given to Vijayendra is experimental and based on his reactions to previous treatments.
“BENTA has affected 14 people in the world, and Vijayendra appears to be the world’s first case diagnosed at an early stage, considering the age and severity. Based on his reaction to previous treatments, we suggest a stem cell transplant, as it is his best chance for survival. Vijayendra urgently needs to find his matching blood stem cell donor,” said Dr Stalin Ramprakash, Consultant - Paediatric Haematology, Oncology and BMT, Aster CMI Hospital, who is currently treating him.
DKMS BMST Foundation India, a Bengaluru-based blood stem cell registry, is coordinating the search for a matching donor for the baby. “In India, only 0.04% of the population is registered as potential donors, especially due to lack of awareness, and apprehensions around blood stem cell donation. Almost 70 per cent of patients are dependent on unrelated donors. We encourage people to come forward and register online as potential lifesavers,” said Patrick Paul, CEO, DKMS-BMST.
To reach out to people across India, DKMS-BMST has launched a virtual drive where one can register online to save patients like Vijayendra. The link to register for this patient is www.dkms-bmst.org/Vijayendra. Interested citizens aged 18 to 50 can register and fill up an online form, and will receive a do-it-yourself swab kit.
Once a person comes up as a match, blood stem cells are obtained from the bloodstream, using a procedure called Peripheral Blood Stem Cell Collection, which is like blood platelet donation wherein only stem cells are taken. This is a very safe, non-surgical outpatient procedure.
Appealing to the public, Vijayendra’s mother Rekha said, “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. It will only take five minutes to register with this simple process.”