Care For Rare Disease Circle

The various treatment approaches used for Hemophilia are: Replacement therapy – Missing clotting factors are replaced in the blood. Blood factor concentrates made from donated blood or Recombinant clotting factor (Lab made) are given via IV infusion. This therapy is used in severe Hemophilia cases to prevent bleeding episodes. Emicizumab (monoclonal antibody) is a drug approved for pediatric and adult patients. It helps in preventing bleeding episodes.  Desmopressin – This hormone can…

Below mentioned tests are conducted for diagnosis of Hemophilia: Complete Blood Count (CBC) – It measures the amount of hemoglobin, and the size and number of red blood cells, white blood cells and platelets. Bleeding time test – It is used to access the time for a small incision to stop bleeding. 2 to 9 minute is the normal bleeding time. Activated Partial Thromboplastin Time (aPTT) – It measures the time for blood to clot. 25 to 35 second is the normal time. Clotting factor test – It is used…

Hemophilia is classified based on the deficiency of different clotting factors: Hemophilia A (Classic Hemophilia) – It is the most common type of condition. It occurs due to deficiency of clotting factors VIII. Hemophilia B (Christmas Disease) – It occurs due to deficiency of clotting factor IX. Hemophilia C – It occurs due to deficiency of clotting factors XI. Para hemophilia – It occurs due to clotting factor V deficiency. Based on the percentage of clotting factors and severity, Hemophilia…

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…