Care For Rare Disease Circle

On occasion of World Hemophilia Day, Dr Chakraborty, Consultant Hemotologist,  shares his views on diagnosis and treatment of thalassemia as also on how the present crisis of Covid 19 is affecting People With Hemophilia. The theme of World Hemophilia Day in 2020 is “Get+involved”. Why should people get involved in bleeding disorders like Hemophilia? Hemophilias are a group of bleeding disorders where due to genetic transmission, clotting factors are either not produced or are produced…

Payel Bhattacharya was born with VHL or von Hippel-Lindau, a rare genetic disorder, and has multiple other issues, which have made her life a constant battle with medicines and surgeries. She recounts here how she spends a typical day at home, with her mom and pain being a constant companion, when she is not admitted to a hospital for treatment. #DayInTheLifeSeries About me: They told me that I was born with little hands and little feet. My father played with my little hands with fondness,…

Joseph Afreddy from Mumbai shares the challenges faced by his 10 year old son Neel who has the rare disease MPS II, also known as Hunter's syndrome, the benefits of an early diagnosis and what keeps him awake at night. Please tell us a bit about Neel’s condition.  Neel was born with mucopolysaccharidosis II (or MPS II or MPS 2), also known as Hunter’s syndrome, a very rare disease. It is a genetic disorder where the body has a deficiency of an enzyme called iduronate 2-sulfatase…

Tahira Tahir from Pune is the Regional Coordinator of Cure SMA Foundation of India and a passionate parent advocate for access to the treatment options for Spinal Muscular Atrophy Type 1, despite losing her son to this rare disease. It’s been less than a year since I heard my life’s most shattering news, although it feels like I’ve travelled ages since then. In October 2018 my angel, the most beloved part of mine, my son Sameer Ahmad was diagnosed with a fatal, debilitating, rare neuromuscular…

Rajiv Chandrabhanu, 43 from Bengaluru is a PwH (Person with Haemophilia) since he was 6 months old. He talks about his personal battle with the condition and how he has managed to stay afloat. Please tell us a bit about your condition (Lesser known conditions will need to be described) I am a person with Severe Hemophilia A (Factor VIII deficiency). Hemophilia is a rare hereditary bleeding disorder, caused by the absence of a clotting factor in the blood. I was diagnosed with Hemophilia when I…

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…