Care For Rare Disease Circle

Prof. (Dr) Jayanta Roy, a senior consultant in Neurology has seen hundreds of Guillain-Barré Syndrome (GBS) patients recover fully each year at the Institute of Neurosciences (INK) Kolkata. To him “the current panic spread by some sections of the media is causing unnecessary alarm” because given the right and timely treatment "GBS is a curable disease" What do you think of this latest GBS scare? Some people are referring to it as a new epidemic or even the next pandemic. This is not new at all…

Rare Diseases are complicated and challenging because they are rare and isolating. PatientsEngage has put together a baseline of information to get you started and some pointers for resources. The term “rare disease” is something that immediately takes our mind to challenging scenarios and fat medical bills. While usually anything that’s rare has great value, in our medical world unfortunately it means the polar opposite. Simply put, these are conditions that are found in a very small…

Dr. Latika Gupta, Consultant Rheumatologist and Senior Lecturer at the Royal Wolverhampton Hospitals NHS Trust and University of Manchester in UK addresses questions on Myositis or Idiopathic Inflammatory Myopathy, an often-underdiagnosed autoimmune condition. What is Idiopathic Inflammatory Myopathy (IIM) or myositis? Myositis is a group of rare conditions where the immune system, which normally protects us from infections, mistakenly attacks healthy muscle tissue. This causes inflammation in…

Rekha (name changed on request), 24 and a medical student has been living with dysautonomia since childhood and was also diagnosed with Sjogren’s Disease at the age of 21. She shares the challenges she has faced and how she advocates for herself with doctors, friends and colleagues as she navigates the complexities of her condition. I am a 24-year-old female living in India and diagnosed with Sjogren's Disease and Dysautonomia. I am living with dysautonomia since childhood. I love anthropology…

Navigating diagnosis and care for Rare Eye Disease is complicated and complex. It can take many years and the burden of care on the family is huge. Families also deal with many socio-economic challenges apart from the lack of effective treatment options. We speak with fathers of children living with rare diseases and Dr. Muralidhar Ramappa, Consultant Opthalmologist, L V Prasad Eye Institute (LVPEI) Panelists: Speakers - Dr. Muralidhar Ramappa, Consultant Opthalmologist, L V Prasad Eye…

SP shares his frustrations in trying to get palliative and empathetic care for his mother, 59 who has been diagnosed with Restless Leg Syndrome. He questions why his mother should not have access to pain management. Back in March 2019, my father suffered a heart attack. He had to undergo surgery and took around 3 months to get back on his feet. For us, our father is our pillar of strength and such things happening to him came as a shock for our whole family. My mother, 59, who had been in…

Rajesh Chaudhary, aged 33, is a husband and father who works as a Deputy Mamlatdar in Gujarat. He is a sickle cell warrior and does not allow his condition to limit him from achieving his goals. Diagnosed with sickle cell anemia at the age of 8, he discusses the challenges he has faced due to the condition and how he manages them on a daily basis. Please share your journey which lead to the diagnosis. Even though I lived in an area where sickle cell anemia is common, my parents did not…

Prevention of Sickle Cell Disease There is no known way to prevent this genetic disease. Avoid consanguineous marriages and encourage blood testing before marriage Screening tests such as Prenatal diagnosis or new born screening can be done to check if baby has sickle cell disease for prompt intervention and treatment. We must keep check on symptoms for sickle cell disease and early diagnosis of it.     References Image 1 : https://www.aboutkidshealth.ca/Article?contentid=745&…

Management of Sickle Cell Disease and its Complications The key to manage sickle cell disease and its complication is rapid hydration and pain control. Any and all major organs are affected by sickle cell disease. Complications such as increased infections, leg ulcers, bone damage, early gallstones, kidney damage, eye damage or multi organ failure can happen.  Taking the following steps to stay healthy might help avoid complications of sickle cell disease: Staying hydrated Regular…

Treatment of sickle cell disease aims to manage symptoms and prevent organ damage. Besides bone marrow transplants that can be curative for some people, there are  also emerging gene therapies for sickle cell disease.   Pain medications for pain crisis Drinking plenty of water daily (8 to 10 glasses) to manage pain crisis Blood transfusion  Vaccinations and antibiotics to prevent infections Folic acid to prevent severe anemia Hydroxyurea helps to reduce the frequency of…