Rare Disease Day is observed every year on 28th February. It is a globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with rare disease.
Having affected about a fifth of the world population, the burden of blood-related rare diseases, especially Thalassemia is huge in India. Over 10,000 children are born with thalassemia major every year, and over 7,000 cases are diagnosed with aplastic anemia per year.
A disease is considered rare by WHO when it affects one person out of 1000 or less. There are between 5000 and 8000 rare diseases, most of them genetic in nature and particularly impact children causing 35% of deaths before the age of 1 year and 10% between the age of 1-5 years and 12% between 5-15 years. Every country has their own definition of rare disease that suits their specific requirements, and according to the Indian Council of Medical Research (ICMR), a rare disease is one that affects one in 2,500 people or less in India.
India in a bid to further its agenda as a welfare state has gone on to introduce the National Policy for Rare Diseases 2021 (NPRD) which is based on the principle of inclusion as enshrined in the constitution’s directive principles of state policy. The policy is aimed at lowering the cost of treatment of rare diseases while increasing the focus on indigenous research and local production of medicines.
This year on the rare disease day, DKMS BMST Foundation India would like to focus on the plight of a patient from Bangalore, a 7-month-old baby Vijayendra, who is suffering from a very rare genetic disorder called “BENTA” disease. This case of genetic mutation has affected only 14 people in the world, including him. His only hope for survival is a blood stem cell transplant. 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. Currently he is being treated under Dr. Stalin Ramprakash, Consultant – Pediatric Hematology, Oncology and BMT, Aster CMI Hospital, Bengaluru.
Speaking on his condition and possible treatment outcome, Dr. Stalin Ramprakash said, “Based on Vijayendra’s reaction to the previous treatments, we suggest a stem cell transplantation is his best chance at survival. For a successful stem cell transplant, Vijayendra urgently needs to find a matching blood stem cell donor.”
“In India, only 0.04% of the population is registered as potential stem cell donors mainly due to lack of awareness, misconceptions and apprehensions that people have around blood stem cell donation. There are many patients who are in dire need of an unrelated donor for a lifesaving stem cell transplant. We encourage people to come forward and register online as a potential lifesaver,” says 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 be a potential lifesaver and save patients like Vijayendra.
The registration process: Interested citizens aged 18-50 can register through the online portal: www.dkms-bmst.org/Vijayendra
Step 1: Visit the site, fill up an online form and the individual will receive a DIY swab kit at home.
Step 2: Once they receive the swab kit, they can fill out the consent form and take a tissue sample from the inside of their cheeks with 3 cotton swabs provided in the kit.
Step 3: Send back the swab sample in the pre-paid envelope provided.
DKMS laboratory will then analyze their tissue type and the details will be available in the global search for blood stem cell donors. Once an individual comes up as a match, blood stem cells will be obtained from the bloodstream using a procedure called Peripheral Blood Stem Cell Collection, which is like a blood platelet donation wherein only their stem cells are taken. This is a very safe, non-surgical outpatient process.
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