Care For Rare Disease Circle

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),…

On occasion of World Hemophilia Day, Dr Chakraborty, Consultant Hemotologist,  shares his views on diagnosis and treatment of thalassemia as also on how the present crisis of Covid 19 is affecting People With Hemophilia. The theme of World Hemophilia Day in 2020 is “Get+involved”. Why should people get involved in bleeding disorders like Hemophilia? Hemophilias are a group of bleeding disorders where due to genetic transmission, clotting factors are either not produced or are produced…

Payel Bhattacharya was born with VHL or von Hippel-Lindau, a rare genetic disorder, and has multiple other issues, which have made her life a constant battle with medicines and surgeries. She recounts here how she spends a typical day at home, with her mom and pain being a constant companion, when she is not admitted to a hospital for treatment. #DayInTheLifeSeries About me: They told me that I was born with little hands and little feet. My father played with my little hands with fondness,…

Joseph Afreddy from Mumbai shares the challenges faced by his 10 year old son Neel who has the rare disease MPS II, also known as Hunter's syndrome, the benefits of an early diagnosis and what keeps him awake at night. Please tell us a bit about Neel’s condition.  Neel was born with mucopolysaccharidosis II (or MPS II or MPS 2), also known as Hunter’s syndrome, a very rare disease. It is a genetic disorder where the body has a deficiency of an enzyme called iduronate 2-sulfatase…

Tahira Tahir from Pune is the Regional Coordinator of Cure SMA Foundation of India and a passionate parent advocate for access to the treatment options for Spinal Muscular Atrophy Type 1, despite losing her son to this rare disease. It’s been less than a year since I heard my life’s most shattering news, although it feels like I’ve travelled ages since then. In October 2018 my angel, the most beloved part of mine, my son Sameer Ahmad was diagnosed with a fatal, debilitating, rare neuromuscular…

Sanjeev Agrawal, 60, a Professor of Mathematics has been battling invisible illnesses all his life.  He reflects on how his responses to his daughter's challenges due to her invisible illnesses have been shaped by his experiences. #FathersDay series. Asked to write something for Father’s day for PatientsEngage, I go to the site and start wondering – do I write as a caregiver or as a patient? Rather than work out a theme, I decide to write about whatever comes, at this time, to my mind.…

Rajiv Chandrabhanu, 43 from Bengaluru is a PwH (Person with Haemophilia) since he was 6 months old. He talks about his personal battle with the condition and how he has managed to stay afloat. Please tell us a bit about your condition (Lesser known conditions will need to be described) I am a person with Severe Hemophilia A (Factor VIII deficiency). Hemophilia is a rare hereditary bleeding disorder, caused by the absence of a clotting factor in the blood. I was diagnosed with Hemophilia when I…

Nisha Suchak, 40, who is living with the von Willebrand Disease, which causes heavy menstrual bleeding and other bleeding problems, recounts some of the life threatening situation that she has had to battle. I have had a bleeding disorder since I was an infant. My knees and elbows would turn black and blue and would pain severely for several days every time I would get a bruise. Once, when I was 3-years-old, I fell on my face while running at home and my nose began to bleed. Most nosebleeds are…