A rare disease according to the name is a disease that is not common. In India, there is no standard definition of a rare disease yet. However, the National Policy for Treatment of Rare Diseases in India (2016) estimates that about 75-85 million people are affected by some form of a rare disease in India.
In India more than 30% of the affected rare disease population is children and these children may not live beyond the age of 5. The rare disease takes time to diagnose it is estimated that it takes nearly 7-8 years to a rare disease to diagnose. About 80% of all the rare diseases are genetic in origin. Autoimmune disorders and rare cancers are also included in rare diseases. Unfortunately, only 5% of existing nearly 7000 rare diseases have approved treatment or cures.
Today we are going to discuss 5 most rare diseases in India and the treatments as well. Let’s start with rare disease number 1:
This rare disease or we can say a rare disorder affects our blood's ability to clot. It's usually inherited and most of the people who are infected with it male. There are many symptoms of hemophilia, but the main symptom is bleeding that does not stop or we can also be called it prolonged bleeding. Other symptoms include bruises skin, pain, and stiffness around the joints and all this happens because of the internal bleeding, blood in urine, or stool. This is the condition that requires immediate medical attention.
Treatment of hemophilia
As we know hemophilia affects our blood ability to clot so according to this the best treatment would be to replace the missing blood clotting factor so that the blood can clot properly. In this treatment, treatment products are injecting into a person’s vein, and these are called clotting factor concentrate. Treatment products are prescribed for episodic care and for prophylactic care. Both are used for a different way, episodic care is used to stop a patient’s bleeding episodes and prophylactic care is used to prevent bleeding episodes from occurring.
Thalassemia blood disorder
The second rare disease we are going to talk about is Thalassemia. This disease reduces the production of hemoglobin that is the protein that is needed to carry oxygen in red blood cells. The disorder destroys red blood cells in that much quantity that may lead to anemia. The symptoms of thalassemia can vary, however, some common symptoms include dark urine, delayed growth, and bone deformities.
Treatments of Thalassemia
Thalassemias treatments depend on the type and severity of the disorder. Those people with alpha or beta thalassemia trait have mild or no symptoms usually need little or no treatment.
Three types of standard treatments for moderate and severe forms of thalassemia are used by doctors. These treatments include blood transfusions, folic acid supplements, and iron chelation therapy. All the medicines and supplements that are used in treatment can be bought from a medical store or one can buy medicines online too.
Sickle cell anemia is a rare disease that affects red blood cells. People of African, Middle Eastern, Eastern Mediterranean, and Asian origin are mainly get effected by sickle-cell anemia. Symptoms of this disease develop at a young age and may appear in babies as early as only 4 months old. Jaundice, swelling, and pain in hands and feet, frequent infections, fussiness in babies, or fatigue are the common symptoms of sickle-cell anemia.
It is a serious and lifelong condition, although many of the problems associated with it can be managed by long-term treatment.
There are many forms of treatments are available. We will talk about a few.
• To manage the crisis it is important to treat underlying or associated infections because the stress of an infection can result in a sickle cell crisis.
• Blood transfusion is also the best way of treatment as it improves the transport of oxygen and nutrients as needed.
• To make breathing easier and improve in oxygen levels in blood supplemental oxygen is given through a mask.
• During a sickle crisis pain is usually to relieve this pain, pain reliever medication is used. You may need any either over-the-counter drugs or strong prescription pain medication such as morphine. These prescribed medicines are available on a medical store or one can also buy prescribed drugs online.
• Droxia is used to increase the production of fetal hemoglobin
• Immunizations are also needed and it is useful can help prevent infections because patients tend to have lower immunity.
When your body is unable to make the protein that breaks down glycogen, a complex sugar for energy, this situation is called Pompe disease that is also known as glycogen storage disease type II this is the disorder that usually causes muscle weakness and trouble breathing. It mostly attacks the liver, heart, and muscles.
Pompe disease is a wide topic to learn that why for comfort it has been divided into three types, depending on the age at which it first appears and according to its severity -- classic infantile, non-classic infantile, late-onset.
Classic infantile usually begins in the first three months of life. Its symptoms may include weak muscle, trouble breathing, enlarged liver and tongue, feeding problems, and not gaining weight, etc.
Non-classic infantile Pompe disease symptoms include – problems in breathing, abnormally large heart, etc. These symptoms may show from the age of 12 months.
Symptoms of late-onset type may not show until adolescence and in some cases occurring as late as age 60. Symptoms may include shortness of breath, trouble in breathing while sleeping, enlarged liver, stiff joints, weight loss, muscle pain over a large area, an enlarged tongue that makes it hard to chew and swallow, etc.
As we know a lot of symptoms are as same as to other medical conditions, to know what is really happening to your body doctor may ask you for a series of tests. The sad thing is that there is no cure exists for Pompe disease, however treatment to manage the symptoms is available. Enzyme replacement therapy is used as a treatment of Pompe disease
Here we come on our 5th rare disease that is cystic fibrosis (CF). This condition causes severe damage to the lungs, digestive system, and other organs in the body. Symptoms usually occur in early childhood and the condition gets slowly worse over time. Symptoms include wheezing, coughing, shortness of breath and damage to the airways, a stuffy nose, exercise intolerance, poor weight gain and growth, jaundice, etc.
In anyone in your family who has difficulty breathing or any other symptoms related to cystic fibrosis, you need to seek medical care urgently as there is no cure available for this condition.
As we know there is no cure for this condition however treatment can help ease symptoms and reduce complications. Here are some possible treatments that are available:
• antibiotics to prevent chest infections these antibiotics are available on almost every medical store if in case they are not found on can also buy antibiotic medicine online.
• drugs that widen the airways and reduce inflammation
• clear mucus from the lungs with the help of special devices
• taking a special diet or supplement to prevent malnutrition
• In case if lungs become greatly damage a lung transplant may eventually be needed.
These were the five rare diseases in India. If anyone in your contact faces any of these diseases symptom ask them to visit the doctor as soon as possible before the situation become worse because we know there is no cure but only treatments available. So it is better to treat them well when symptoms are less.