Care For Rare Disease Circle

Payel Bhattacharya, 38 suffers from a rare condition called VHL and has undergone countless surgeries and a liver transplant to overcome her various challenges. She is a warrior and here she recounts as to how tough her going has been Please tell us a bit about yourself, your condition, as in what you are suffering from and when you were diagnosed. I am Payel Bhattacharya. I was born and raised in Kolkata, but I am currently residing in New Delhi with my mother for the past decade. Ten years…

Karan Shahh, 20 shares his journey with SMA III, the support of his family and a well trained dog, Angel. Socially and digitally savvy, he refuses to be pitied and told how to live his life. His mother Pratima shares advice for other parents and in similar position and how her advice to her sons always was - "you can never walk, but let’s build on what you can do.” 1.   Please tell us a bit about your condition  I have type III Spinal Muscular Atrophy or SMA. SMA is a genetic…

Hitesh Chowhan, 52 from Bengaluru, shares the challenges of bringing up his son Rishi diagnosed with Autism and Duchenne Muscular Dystrophy, a rare disease. The constant struggle to make him independent and as comfortable as possible. And of course a hope for a cure. My son Rishi is nearly 10 years old and has both Duchenne Muscular Dystrophy (DMD) and Autism. Early Symptoms and Diagnosis He was diagnosed at the age of 5. We consulted doctors when we noticed that he was unable to lift himself…

Wheelchair user computer whiz Pratyush, 24, born with Spinal Muscular Atrophy, excelled at prestigious institutes like IIT Bombay and Columbia University, and recently got a job at Microsoft. His mother Srilakshmi Nalam talks of overcoming depression and taking on the mission to make Pratyush an independent and self-confident person. On September 14, 1993 our little son was born. Giving birth to a new life is an amazing experience. It is the beginning of a great adventure full of surprises and…

Alpana Sharma, mother of 6 year old Aarav, who has Spinal Muscular Atrophy, a rare neuromuscular disorder that leads to progressive loss of muscle control and muscle movement, is doing everything she possibly can to save her son. Read her spirited story. The birth of our son ‘Aarav’ filled our lives with happiness and joy that only a mother's heart can hold. Like any first time parents, Aarav's every new milestone - his smile or his waving hands - was a marvel. It was a pleasure just watching…

Premroop Alva, 42 lives with a rare hereditary blood disorder - Haemophilia condition. He has extensively worked towards spreading awareness and talks of the travails of the condition and how it should be tackled to lead as normal a life as possible. Please tell us a bit about your condition I am a person with Severe Hemophilia B (Factor IX deficiency). Haemophilia is a rare hereditary bleeding disorder. A person with Hemophilia(PwH) has longer clotting time than normal person. The absence of…

Varda, 34 who lives with the challenges of Myasthenia Gravis took to running to regain muscle strength. As she says: "I chose to run not because it is easy, but because it is hard!" She shares her fight against this neuro-muscular condition.  Please tell us a bit about your condition  I suffer from Myasthenia Gravis. Myasthenia gravis (MG) is an autoimmune disease — a disease that occurs when the immune system attacks the body’s own tissues. In MG, that attack interrupts the…

When a child is diagnosed with a rare disease, it is most agonising and traumatic for parents, especially because they are left alone and helpless. Shital Bhatkar, whose son Aarya succumbed to Niemann-Pick Disease, narrates her long, harrowing time trying to save her son and the need to include rare diseases in public health policies. When my son, Aarya, was born, my husband and I considered ourselves blessed. We had two beautiful kids now – a daughter and a son and felt our family was complete…

Deepa Kannan, who has an 8-year-old son suffering from a rare condition called Congenital Adrenal Hyperplasia (CAH), bares her heart and mind about all her family has been through in trying to cope with the disorder and also about how she is spearheading an awareness movement for affected parents in India. Please tell us a bit about your son Omkar’s condition? Omkar has a condition called salt wasting Congenital Adrenal Hyperplasia. It is an Autosomal Recessive disorder, where both parents are…

MHR, as she prefers to be referred to as, has been battling Behcet’s Syndrome, a rare auto-immune disease for the last 17 years. Having been through various stages of pain, depression and hopelessness, body image issues she has tried ayurveda and yoga, to get some relief. She is keen to spread awareness on auto-immune disorders and wishes that doctors not treat her as guinea pig. First diagnosis I was diagnosed with Behcet’s Syndrome in 2001, after an illness of over 6 months. I was 23 then. I…