Care For Rare Disease Circle

Symptoms of Hemophilia depend on the severity of the condition. Early detection is very important, as internal bleeding can be dangerous. Symptoms and signs of hemophilia include: Prolonged bleeding – Excessive bleeding can occur after injuries, surgeries, or dental procedures. It happens because of the absence of clotting factors required to stop bleeding. Fatigue and weakness – Chronic bleeding can lead to anemia, resulting in fatigue and weakness. Easy bruising – Large bruises can be…

Causes and Risk Factors of Hemophilia Hemophilia is often passed down from parents to children through the X chromosome. Mutations in either of the gene for the factor VIII protein or the gene for the factor IX protein leads to the low production of these clotting factors. This change in a copy of the gene that makes factor VIII or factor IX is called a Hemophilia allele. Both of these factors are found on the X chromosome.                  …

What is Hemophilia Hemophilia is a rare genetic blood disorder in which blood clotting is impaired. This occurs because specific genes producing clotting factors VIII or IX are dysfunctional. As it is an inherited condition, signs often show up in early childhood. The main sign is excessive bleeding, occurring both externally from cuts and internally into joints or organs. Other signs include nose bleeding, easy bruising, and bleeding during or after surgery. Treatment includes administering…

Mrs. Khairunnisha Usmanhaji Patel is a 58 year old woman with a rare heart disease ATTR-CM. Her husband Usman Patel speaks about the her early symptoms, the years it took to get a diagnosis, how her condition affects her quality of life and how she is coping. What condition does your wife have? My wife has a rare heart disease called ATTR-CM (Transthyretin amyloid cardiomyopathy). Can you recall the first symptoms you noticed for which you connected with the doctor? How did the diagnosis come…

Vibha Gupta, 49 originally from Delhi and now in Chicago, USA, lives with multiple chronic illnesses like Sjogren's and heart failure. She shares her journey of learning about her illness, the lifestyle changes that help her cope and why she thinks being proactive is important. Please tell us about your conditions and when you were diagnosed. I have Heart Failure, Sjogren’s, Raynaud’s and recently Idiopathic Pulmonary Arterial Hypertension (PAH). I was diagnosed in: 2010 - Raynaud’s 2013 –…

Satvinder Kaur and Sukhvinder Kaur are two sisters who took care of their mother who was diagnosed with ALS (Amyotrophic lateral sclerosis), a rare neurodegenerative disease for 11 years of which 8 long years were on a ventilator and ICU setup at home. Satvinder shares their years with ALS and all the trials and tribulations that accompanied it. Please tell us how your mother was diagnosed with ALS and what were the early symptoms? We (my brother, sister and I) were blessed with a very loving…

Says Rushabh Desai, 34, an investment adviser, who has been living with rare genetic disorder GNE Myopathy for the last 16 years. Here he shares his thoughts on the importance of being financially and emotionally independent and empowering oneself with perseverance and passion. Could you tell us a little bit about yourself and your work? I was born in Ahmedabad and raised in Mumbai. Along with living a life with GNE Myopathy I run a full-fledged investment services firm of my own called Rupee…

Suchismita Haldar is a full time caregiving mom to her 3 year old son who was diagnosed with Alagille Syndrome at birth. She talks about her journey as well as the awareness campaign she conducts. At what age was your son diagnosed with Alagille Syndrome? What were the symptoms? My son was diagnosed with a critical congenital heart defect 2 days after he was born. He had pulmonary atresia with no native PA (pulmonary artery) and MAPCA (major aorto pulmonary collateral arteries) dependent…

Kavya Poornima Balajepalli lost her eyesight at 21 after a brief period of intense headaches due to Idiopathic Intracranial Hypertension (IIH), a rare neurological disorder. Here she talks about her struggles after loss of vision, how she manages her condition and how she became an IIH warrior to create awareness about the disease. Please could you tell us a bit about your background. I am based in Visakhapatnam, Andhra Pradesh. I did my graduation in architecture from the University of Mumbai…

After running from pillar to post, the Hosangady family finally found their daughter’s diagnosis of a genetic and rare disorder termed Benign Hereditary Chorea. That was 7 years ago. Today Nishka is a young woman living her life and reaching new goals every year. Nishka’s mom tells us how they found ways to help her flourish. Nishka is 23 now and grown into a beautiful young lady. How were her adolescent years? Nishka has normal cognitive functioning. However due to the genetic anomaly at age 8…