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
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…
Nishka Hosangady’s parents have been running from pillar to post to identify and treat their daughter’s crippling cognitive and physical disability. Finally, after visiting a legion of doctors, therapists and healers, she was diagnosed with Benign Hereditary Chorea, a rare autosomal disorder. Read about the Hosangady’s agonizing and persistent battle to save their daughter. When Nishka Hosangady started school at 3 years, she seemed perfectly normal. But, as she went into the…
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A place where Caregivers come together to share common experiences, challenges,and resources. Caregivers are…
