Care For Rare Disease Circle

Nisha Suchak, 40, who is living with the von Willebrand Disease, which causes heavy menstrual bleeding and other bleeding problems, recounts some of the life threatening situation that she has had to battle. I have had a bleeding disorder since I was an infant. My knees and elbows would turn black and blue and would pain severely for several days every time I would get a bruise. Once, when I was 3-years-old, I fell on my face while running at home and my nose began to bleed. Most nosebleeds are…

Mr Manjit Singh, President Lysosomal Storage Disorders Support Society, shares some salient points about the rare disease and about the activities of the organisation, LSDSS. The LSDSS is a national level society with more than 400 patients as members who are represented by elected parents as office bearers, across India. The sole motive of the organisation is to spread awareness about this rare disease as also to help each other in availing of the best facilities available. What are Lysosomal…

Anushka Panda, 16 from Gurugram, India has Type II Spinal Muscular Atrophy. She and her mother Archana share the fears and challenges of living with SMA II, the lack of friends and effect on lifestyle, the need for pre-marital gene mapping. Anushka, please tell us a bit about your condition I suffer from Type II Spinal Muscular Atrophy (SMA). SMA is a genetic disease that affects the motor nerves that control voluntary muscle movements of the body. I was able to stand with support till I was 3…

The theme for Rare Disease Day 2019 is 'Bridging health and social care'. We asked people from the rare disease community (patients and family members) in India what services they would like to see improvement in? And their biggest wish for 2019. Here is what they had to say. Prasanna Shirol, Co-founder ORDI and father of child with Pompe disease would like the following policy changes from the government Compulsory New born screening in the country The supportive care is also included in all…

Srishti Rai, 24, was born with Epidermolysis Bullosa, a rare genetic skin disease. Here, she talks about how she fights for her health every day and her passion for animation. And why she thinks jeans are over-rated. I was born seeming like a “normal” child late one February night, except for a couple of small red bruises on my chin and my ankle from the delivery. This was a little unusual, so I was taken to have the bruises treated. That’s when it was discovered that things were not as simple…

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…