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
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…
Dr. V. L. Ramprasad, COO of MedGenome, a genomics-based diagnostics and research company, highlights the importance of genetic testing. Genetic testing can be useful in identifying genetic disorders, inherited diseases and abnormalities and helpful in management, treatment or prevention of diseases, especially cancers. What is the difference between genetic testing and genome sequencing? Genetic testing is an investigation that looks at specific set of gene variations or set of genes or the…
Mr R.S. Anand, whose son Karanveer Singh was diagnosed with the rare Muscular Dystrophy disease DMD, is not just a caregiver father. He has gone ahead to set up DART to research into new treatments for Muscular Dystrophy. He has also fashioned a comic book series in the Super Hero mode for the kids to look beyond their disabilities. Mr Anand is an inspiration for any father! How did your life change after your son Karan was diagnosed with DMD((Duchenne Muscular Dystrophy)? To be honest it was…
Rare Disease Day 2017 RS Anand has a teenage son with a rare disease Duchenne Muscular Dystrophy which restricts him to a wheelchair. He talks about the emotional and mental strength that they have needed to build on as family to accept and overcome the various challenges. Please tell us a bit about your son's condition My son Karanveer has Duchenne Muscular Dystrophy (DMD). The Muscular Dystrophies are a group of genetic diseases characterised by progressive weakness and degeneration of…
says RS Anand, parent of a child with Duchenne Muscular Dystrophy on the FDA approval of Emflaza (deflazacort). The U.S. Food and Drug Administration approved Emflaza (deflazacort) tablets and oral suspension to treat patients age 5 years and older with Duchenne muscular dystrophy (DMD), a rare genetic disorder that causes progressive muscle deterioration and weakness. Emflaza is a corticosteroid that works by decreasing inflammation and reducing the activity of the immune system.…
Deepthi Nair, who was diagnosed with Myasthenia Gravis (MG), a rare, neuromuscular autoimmune condition that leads to varying degrees of muscle weakness, finds the ‘invisible symptoms’ of the disease causes misunderstanding among people and pain and frustration to the patient. December 3 is celebrated as International Day for Persons with Disabilities. Last year, somewhere during this time, I had been to the Disabilities Commission to attend to a legal matter. I remember having witnessed a…
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