Health

Bengaluru baby among 14 in the world with rare genetic disorder BENTA

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Bengaluru: A seven-month-old baby from Bengaluru has been diagnosed with ‘BENTA’ disease, an extremely rare primary immunodeficiency disorder, that is said to have affected only 13 others in the world. This case of genetic mutation has affected only 14 people in the world, including Vijayendra and his only hope for survival is a blood stem cell transplant, according to DKMS BMST Foundation India, a Bengaluru-based blood stem cell registry, that is coordinating the search for a matching donor for him.

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Sharing her thoughts, 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 of your time to sign up online, and register with this simple process of filling a web form and submitting your cheek swab sample to help my baby survive this rare disease,” she said.

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Due to the minimal therapeutic intervention available for BENTA disease, the treatment given to Vijayendra is experimental and is based on his reactions to previous treatments, the Foundation said in a statement on Monday.

Currently, he is being treated under Dr. Stalin Ramprakash, consultant – paediatric haematology, oncology and BMT, Aster CMI Hospital, Bengaluru.

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Dr. Ramprakash said BENTA disease has affected 14 people in the world, and Vijayendra appears to be the world’s first BENTA case who was diagnosed at an early stage considering the age and severity.

“Based on his reaction to the previous treatments, we suggest a stem cell transplant is his best chance at survival. For a successful stem cell transplant, Vijayendra urgently needs to find his matching blood stem cell donor,” he said.

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According to the statement, 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 (splenomegalia) and frequent ear, sinus, and lung infections early in life.

“In India, only 0.04 per cent of the population is registered as potential donors especially due to unawareness and apprehensions people have around blood stem cell donation. There are many patients who are in dire need of unrelated donors as 70 per cent of the patients are dependent on them. We encourage people to come forward and register online as a potential lifesaver,” said Patrick Paul, CEO, DKMS-BMST.

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To reach out to people across India, DKMS-BMST has launched a virtual drive where one can register online to be a potential lifesaver and save patients like Vijayendra.

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