Care For Rare Disease Circle

23 July is marked as World Sjogren's Day (WSD) to honour Dr. Henrik Sjogren who first identified Sjogren's syndrome as a systemic, autoimmune chronic rheumatic condition.  Sjögren’s India and PatientsEngage bring together patient experiences of living with Sjogrens and what can be done to Conquer Sjogren's syndrome in India led by Mrs Kirtida Oza, co-founder Sjogren's India With special messages from Dr. Sapan C. Pandya, Secretary Indian Rheumatology Association and Dr. Debashish Danda…

Navigating Care and Survivorship Issues of Sarcoma, A Rare and Forgotten Cancer Sarcoma is a rare and complex type of cancer that is often misdiagnosed or diagnosed late. It also requires a multi-disciplinary approach. There are also long term issues that survivors face. We speak with a distinguished panel of sarcoma experts and survivors who are trying to address the various diagnostic and survivorship challenges of this forgotten cancer Our panelists are Dr. Sameer Rastogi, Medical Oncologist…

Jolene Dias, who was diagnosed with Limb Girdle Muscular Dystrophy, persevered her passion for music against adversities. From a celebrity singer, she began to teach music to children, including those with special needs, and challenge preconceived notions about people on wheelchairs. I was an extremely active child, good in sports and studies. I used to love to sing, dance, and perform. In school, I was at the center of all music shows, singing classes, and choir practices. I have been…

Dr Anupama Pattiyeri, who has a strong family history of hemophilia, was diagnosed with mild Hemophilia A at age 32. Today, she is actively involved with primary counselling as well as educational and financial empowerment among young hemophilics and women of the bleeding disorder community. Could you tell us a little bit about your condition? I have mild deficiency of Factor VIII (blood clotting protein). While the normal level of Factor VIII in blood is 50 -150%, mine is 26%. हिंदी में पढ़ें…

बेंगलुरु के 43 वर्षीय राजीव चंद्रभानु एक पीडब्ल्यूएच( (पर्सन विथ हीमोफीलिया, यानी कि (हीमोफिलिया वाले व्यक्ति) हैं - उन्हें 6 महीने की उम्र में ही हीमोफीलिया का निदान मिला था । इस इंटरव्यू में वे इस अवस्था के साथ अपनी व्यक्तिगत लड़ाई के बारे में बात करते हैं और बताते हैं कि इस के बावजूद वे अपने जीवन को कैसे ठीक से संभाल पा रहे हैं। कृपया हमें अपनी स्थिति के बारे में कुछ बताएं मुझे सिवीअर हीमोफीलिया ए (फैक्टर VIII डेफिशियेंसी) है। हीमोफीलिया एक दुर्लभ अनुवांशिक रक्तस्राव विकार है, जो रक्त में…

There are more than 7000 rare diseases. Most of them are genetic disorders and affect children from a young age. Diagnosis takes very long. Treatments are very expensive and often don't even exist. There is no proper rare disease policy in place.  Rare is Many, Rare is Strong, Rare is Proud #RareDiseaseDay #RareDisease #CareForRare  These diseases affect not just the lives of children but also their families. Listen to voices of patients with rare disease and their families…

14-year-old Veydaant Shah has the rare Duchenne Muscular Dystrophy condition which makes him a wheelchair user. He shares with us his thoughts and dreams. Please tell us a bit about your condition I didn’t ever run like normal kids, and when I turned 7 years, I already had difficulty in walking fast and a helper was required to hold my hands while walking around in school. By 10 years I was using a wheelchair. I have Duchenne Muscular Dystrophy and have read about in on internet. When were you…

Sindhu Saiprasad from Ernakulam, Kerala talks about her son Nikhil who is on the autism spectrum and got a late diagnosis of a rare genetic disorder Fanconi Anemia and how that has impacted their lives. Please tell us a bit about your child’s condition.  Nikhil is a young adult who has autism with seizures. Until 18 years of age Nikhil was coping with the challenges of autism. He is partially verbal with need-based communication and was on seizure medicines from early childhood. However,…

Zeba Gufran has two children with Spinal Muscular Atrophy, a rare disease. She shares her fears of dealing with the challenges of SMA compounded during the Covid-19 pandemic and the safety measures the family employs.   I have two kids Erhan and Affan. Erhan is 1yr10 months old and has from SMA type1 and Affan who is nearly 4 years old and has Type 2 SMA. SMA is Spinal Muscular Atrophy. Affan was diagnosed when he 18 months old. Until 14 months he used to sit independently, crawl,…

Due to the Coronavirus lockdown, majority of People with Hemophilia (PWH) are suffering in silence with severe pain by taking pain killers and homeopathic medicines prescribed by our doctors, informs Ramu Gadkar, Regional Chairperson Haemophilia Federation of India – Western Region. How has the Coronavirus lockdown affected the supply of lifesaving, essential drugs for hemophilia patients? These essential drugs come through courier via flight services from Hemophilia Federation of India (HFI),…