City doctors rescue 13-year-old Mauritian from rare genetic disorder
City doctors gave Ciara, a 13-year-old-girl from Mauritius, suffering from a rare Complement Deficiency genetic disease, a new lease of life. Suffering from C1q deficiency since the age of two, Ciara became the first teen in Asia suffering from this complex condition to receive a bone marrow transplant.
Ciara was suffering from skin rashes and kidney ailments and had difficulty in walking and suffered from stiffening of lower limbs for a decade. Until the transplant, Ciara was on multiple immune-suppressants to control the autoimmune condition – Systemic lupus erythematosus and was being treated with over 10 different medications.
Finally, the Pediatric Immunology department at Aster CMI Hospital diagnosed her to have a rare genetic disease – complement C1q deficiency. The family was advised for a bone marrow transplant and the father became the donor. The Hospital not only performed a sucessfull transplant but alsi helped the family raise Rs. 26.5 lakhs through various crowdfunding platforms.
The transplant was carried out jointly by Dr Sagar Bhattad, Consultant, Pediatric Immunology and Rheumatology, Dr Stalin Ramprakash and Dr CP Raghuram, Consultants, Pediatric Hematology and BMT, Aster CMI Hospital, Bengaluru. So far, less than 10 such cases have been successful have occured in the world. The first one happened as recently as 2014.
While speaking about the complexity of such cases, Dr Sagar Bhattad said, “Majority of children who are often sick, suffer from a dreaded group of diseases called ‘Primary immune deficiency diseases’. Unfortunately, physicians and pediatricians are not well versed with these diseases and it may result in delay in the diagnosis. Though rare, our hospital is witnessing 3-4 new children every month who are diagnosed with it. We strongly believe that this is only the tip of the iceberg.” Dr Bhattad is the first DM super-specialist in Pediatric Immunology in the country and a gold medalist for research in C1q deficiency lupus. Dr Nitish Shetty, CEO, Aster CMI Hospital, said: “It is a great pleasure to see a young girl from another country getting a new lease of life . We are glad to have helped.”
As per research conducted worldwide, 1 in 2,000 children suffers from an immune deficiency. If these figures are extrapolated to the city of Bengaluru, around 5,000 children will have immune deficiency disease.
Mother gives son a rebirth
Rpesh (name changed), aged 30, started showing symptoms like fever, chills, loss of appetite, weakness, nausea and anaemia in early 2010. After several blood tests, endoscopy of the stomach and ultrasound of the abdomen, he was told that his kidneys his creatinine level was at a 16.9 high. He suffered from a congenital condition known as Vesico-ureteric reflux (VUR), a condition in which urine flows backward, from the bladder into the ureters/kidneys.
The doctors mandated him for a bi-weekly dialysis. By the time he approached the BGS Gleneagles Global Hospitals, he had already undergone 7 years’ of dialysis, rendering him weak and weighing at 32 kgs.
Chronic Kidney Disease (CKD) is a progressive loss in kidney function over a period of months or years. “After one year, now I am able to walk. I am thankful to the doctors and my mother who has given me rebirth,” said Rupesh. The severity of his condition made it risky for him to wait for a cadaver transplant. Hence, the doctors advised him to go for a living donor transplant.
Shailaja Suresh, CEO, Gleneagles Global Hospitals says, “If CKD is detected early, the deterioration in kidney function can be slowed or even stopped. We urge youngsters to pay attention to their bodies. Especially in urban cities like Bangalore, we see young people overworking themselves and leading unhealthy lives.”
WORLD RECORDS
Addressing an awareness talk to 311 people on preventing kidney diseases and a Free screening health camp for 623 people on thisWorld Kidney Day, Manipal Hospitals Bengaluru has entered the Guinness world records. The talk was held to raise awareness among the general public.
–Mariam Zibiya & Misbah Fathima
https://bangaloremirror.indiatimes.com/bangalore/others/teen-with-rare-disease-to-live/articleshow/68399589.cms
