Throughout human evolution, many illnesses and diseases have been successfully discovered and combated. However, even today, despite all the advances in the medical field, certain diseases still have little-known information. Such diseases that are new to our knowledge, are categorised as rare diseases. There are numerous possible causes of rare diseases. Majority of them are hereditary, with alterations in chromosomes or genes being the main contributor. Some also include auto-immune disorders, tumours, hereditary deformities and metabolic abnormalities. Unfortunately, many such diseases are still without therapies or treatments due to incomplete or unsuccessful scientific research. Therefore, it’s important to raise awareness as it helps people decide whether or not they are suffering from a condition that can be treated. The growing focus on rare diseases makes us realise they are more common than we think. We have listed some of the common ones below.
Multiple Sclerosis:
Multiple Sclerosis is an autoimmune disease that affects the central nervous system. This happens because the disease obstructs the normal functioning of the spinal cord and brain. Consequently, it causes numbness in either one or both limbs. As time passes, it eventually develops to a complex stage and can permanently damage the nervous system. Its symptoms usually include tremors or electric shock sensations. Though the exact causes of the disease are still unknown, it is believed that genetic alterations, environmental factors, and low exposure to sunlight have a role in its development. Currently, this disease has no cure.
Narcolepsy:
Narcolepsy is a rare condition that impacts your ability to stay awake even during the daytime. It is a sleep disorder that causes sleep paralysis, excessive sleepiness, loss of muscle control and hallucinations. What causes this sleep disorder is unknown. Hence, there is no specified treatment available either. Most neurologists suggest specific lifestyle changes to help manage its symptoms. These include avoiding tobacco, caffeine and alcohol and undergoing cognitive behavioural therapy to develop a proper sleep schedule.
Primary Biliary Cholangitis:
Primary biliary cholangitis is also an autoimmune disease, but this one affects the liver. It causes the gradual destruction of bile ducts. Bile ducts help in regulating cholesterol levels, better digestion, and filter the toxins in our body. Once damaged, it can lead to irreversible scarring of liver tissues. There are no findings to determine the exact cause of the disease. But, a gastroenterology practitioner can prescribe several medications to control its symptoms. Usually, people with this disease do not develop any noticeable symptoms as they may take many years to manifest.
Fabry Disease:
This rare disease is hereditary and caused due to genetic mutations. In this condition, the body is unable to produce an enzyme called alpha-galactosidase A. This enzyme breaks down fatty acids in the body. Therefore, the lack of alpha-galactosidase A in the body can lead to a build-up in blood vessels, thereby affecting the heart, kidney, brain and nervous system. The symptoms of this disease also vary depending on its severity and the organs it affects, making it harder to diagnose. Some symptoms include cloudy vision, stomach pain, hearing loss and painful rashes on the skin. The treatment for this disease usually involves Enzyme Replacement Therapy (ERT) or taking a drug called Migalastat. Furthermore, a doctor can also prescribe drugs to address specific problem areas, such as blood thinners and painkillers.
