RARE DISEASES, THE MYSTERIOUS DISEASES CAUSING LOSS OF LIFE OR ITS QUALITY
It is difficult to put oneself in the shoes for a healthy person who is suddenly unable to walk. Everything a healthy person isn’t grateful for becomes the luxury he/she cannot avail when infected by the rare diseases, the threats that no one is prepared for and sometimes even the doctors are not.
Each year, at the end of February, the last day of the month is dedicated to the rare diseases that have been affecting the daily life of many patients, their families and caregivers. This day is an opportunity for all of them to come forward as the survivors of the medical conditions to raise awareness about the same.
Offering hope for those who are suffering from these diseases, this day allows people to not feel isolated and help others who are fighting against the diseases or have lost someone to it gain the courage to fight against the disease and raise awareness for the same.
DON’T WASTE TIME
What is the most dangerous thing about these diseases? Well, it is something that cannot be diagnosed by everyone and the first reflex of visiting a general physician is wasting time in case the/she is not aware of the disease. The symptoms of these diseases are usually similar to either other diseases or none. So, an expert is needed to handle such cases. In this scenario, visiting a hospital with a team of neurology or other experienced doctors is essential.
The rare diseases we are talking about:
GUILLAIN-BARRÉ SYNDROME, AUTOIMMUNE DISORDER
It is a rare disorder in which the body’s immune system attacks healthy nerve cells in the peripheral nervous system (PNS). This disease leads to weakness, numbness, and tingling, and can eventually cause paralysis if one does not diagnose it at the right time.
The infections associated with Guillain-Barre includes influenza, cytomegalovirus (CMV), which is a strain of the herpes virus, Epstein-Barr virus (EBV) infection, or mononucleosis, mycoplasma pneumonia, which is atypical pneumonia caused by bacteria-like organisms, HIV or AIDS.
Anyone can get Guillain-Barré, though it is more common among older adults and in extremely rare cases is developed days or weeks after vaccination. With an unknown cause, this condition is typically triggered by an infectious illness such as gastroenteritis (irritation of the stomach or intestines) or a lung infection.
AUTO BREWERY SYNDROME, INTOXICATION WITHOUT ALCOHOL
Also known as gut fermentation syndrome and endogenous ethanol fermentation, in this disorder, the body turns every carbohydrate consumed by the person into alcohol. The “drunkenness disease is a rare condition which makes one intoxicated or drunk without drinking alcohol. With symptoms of red or flushed skin, dizziness, disorientation, headache pain, nausea and vomiting, dehydration, a dry mouth which are very common after drinking, it is very difficult for such a disease to be diagnosed.
Both adults and children can have the auto-brewery syndrome which is caused by a complication of another disease, imbalance, or infection in the body. Some people can be born with it while others can have other conditions that trigger the auto-brewery syndrome.
Other reasons that can contribute to the too much yeast in the body can be poor nutrition, antibiotics, inflammatory bowel disease, diabetes, and low immune system.
MAPLE SYRUP URINE DISEASE (MSUD), INHERITED METABOLIC DISORDER
This rare disease prevents the body from breaking down certain amino acids, the remains after the body digest proteins from the food consumed. When the special enzymes process the amino acids to maintain the body functions are missing or defective, it causes the amino acids and their products, called keto acids to collect in the body.
The increase in the levels of these substances can result in neurological damage, coma, and life-threatening conditions. In MSUD, the body lacks an enzyme called BCKDC (branched-chain alpha-keto acid dehydrogenase complex) that processes three important amino acids: leucine, isoleucine, and valine, also called BCAAs (branched-chain amino acids). BCAAs are found in foods rich in protein, such as meat, eggs, and milk.
MSUD can cause significant physical and neurological problems which can be controlled with dietary restrictions. The success of this method can be monitored with blood tests and again, the early diagnosis and intervention improve the chance of long-term success.
Glimmer Of Hope
There are various other rare diseases related to other body functions, the most essential part is for the patients and their families to find hope and strength to face life with the challenges it presents. From the psychological to emotional support apart from the physical support in terms of therapies, one has to go through; the Indian national policy for rare diseases is desperately required for expansion. The policy seeks to lay down a framework for the treatment of rare diseases and to improve the scientific and medical understanding and expertise to deal with them.
Under the Ayushman Bharat’s Arogya Nidhi scheme, the provision for a one-time payment of Rs 15 lakh as cost of treatment for those who suffer from certain rare diseases is there fro the people below the poverty line and others will benefit under the rare diseases policy. While the one-time assistance is not enough, the policy suggests crowd-funding or corporate donations to meet additional costs.
DESPERTE NEED FOR IMRPOVEMENT
With over 70 million people suffering from rare diseases in the country and many of them are life-threatening, the policy says the focus should be on R&D. The private companies are not interested in such research and government agencies are usually found wanting in any research, in such a scenario, the new policy is a step forward in that direction but needs much improvement and effective implementation.