A rare disease is any disease that affects a small percentage of the population. Most rare diseases are genetic and are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life. This community is to allow persons with rare disease to get access to lived experiences and other resources and to connect with each other
Suchismita Haldar is a full time caregiving mom to her 3 year old son who was diagnosed with Alagille Syndrome at birth. She talks about her journey as well as the awareness campaign she conducts. At what age was your son diagnosed with Alagille Syndrome? What were the symptoms? My son was diagnosed with a critical congenital heart defect 2 days after he was born. He had pulmonary atresia with no native PA (pulmonary artery) and MAPCA (major aorto pulmonary collateral arteries) dependent…
Kavya Poornima Balajepalli lost her eyesight at 21 after a brief period of intense headaches due to Idiopathic Intracranial Hypertension (IIH), a rare neurological disorder. Here she talks about her struggles after loss of vision, how she manages her condition and how she became an IIH warrior to create awareness about the disease. Please could you tell us a bit about your background. I am based in Visakhapatnam, Andhra Pradesh. I did my graduation in architecture from the University of Mumbai…
After running from pillar to post, the Hosangady family finally found their daughter’s diagnosis of a genetic and rare disorder termed Benign Hereditary Chorea. That was 7 years ago. Today Nishka is a young woman living her life and reaching new goals every year. Nishka’s mom tells us how they found ways to help her flourish. Nishka is 23 now and grown into a beautiful young lady. How were her adolescent years? Nishka has normal cognitive functioning. However due to the genetic anomaly at age 8…
Mrs Hsu*, age 47 has been a caregiver for 12 years to her husband Mr. Hsu, diagnosed with rare neuroendocrine cancer. Read how they both took control of his cancer journey and became a firm believer that with good knowledge and support, we can help a patient survive more than 4-6 months. I am caregiver to my husband Henry*. Some 12 years ago, he was diagnosed with a rare cancer, a pancreatic gastrinoma neuroendocrine tumour (NET). He was 50 at that time. His symptoms started with severe…
Suzanne Sangi, 26, was diagnosed with a rare neurological condition called Idiopathic Intracranial Hypertension causing severe headaches, ringing in her ears with a daunting possibility of going blind. Here she talks about her treatment and renewed will to live thoughtfully and hopefully. I often wondered to myself, things couldn’t get any worse than they were -- I’d been living with a chronic illness called Lupus for more than three years now. My kidneys had been aggressively damaged and I’ve…
Devika Phukan, currently a professor in Guwahati, not only battled Sjogren’s but also the trauma caused due to lack of understanding of her condition by medical practitioners (in far flung areas) and the social taboos and ostracization by loved ones. This article has been contributed by Sjogren’s India to highlight the need for early diagnosis and awareness among the medical community. “More than the physical harm from the disease, it was the emotional damage that was debilitating … the…
The theme for World Hemophilia Day this year is “Access for All: Partnership. Policy. Progress. Engaging your government, integrating inherited bleeding disorders into national policy”. By raising awareness and bringing hemophilia and other inherited bleeding disorders to the attention of policymakers, we can increase sustainable and equitable access to care and treatment. We speak with 4 leading voices committed to advocacy and education for hemophilia at the national level and dedicated to…
डॉ अनुपमा पट्टियारी के परिवार में बहुत लोगों को हीमोफीलिया है। हालांकि कई लोगों का सोचना है कि हीमोफीलिया सिर्फ पुरुषों में होता है, डॉ अनुपमा को भी 32 साल की उम्र में हल्के हीमोफीलिया का निदान मिला था। आज, वे हीमोफीलिया वाले युवा और हीमोफीलिया(ब्लीडिंग डिसऑर्डर, रक्तस्राव विकार) वाली महिलाओं के समुदाय को प्राथमिक काउन्सलिंग देने में, शिक्षा देने में और उनके वित्तीय सशक्तिकरण में सक्रिय रूप से भाग लेती हैं। क्या आप हमें अपनी स्थिति के बारे में कुछ बता सकती हैं? मुझ में फैक्टर VIII (एक ऐसा…
Prof. (Dr.) Shilpi Bhattacharya, diagnosed in the prime of her life with rare disease GNE Myopathy that weakens skeletal muscles, fought hopelessness and decided to take the illness by the horns to make a difference to herself and the rare disease community. In 2009 at age 27 you were diagnosed with GNE Myopathy. Please could you tell us a little bit about this rare disease. GNE myopathy is a rare disease that affects approximately 6 persons in a million. Symptoms generally start in the 20s or…
Dr PA Abhinand, 33, with spinal muscular atrophy, who has been on a wheelchair since a teenager, completed his PhD, works as a lecturer and is driven by a never-surrender mindset. Here, he talks about how sometimes life can be depressing and cruel to people with SMA, but still he ensures he lives every moment to the fullest. Could you give us a little background about your condition? I have spinal muscular atrophy (SMA) - a rare neuromuscular disorder which affects about one in ten thousand…
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A rare disease is any disease that affects a small percentage of the population. Most rare diseases are genetic and are…
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