Rare Diseases

RARE DISEASES

There are many diseases in the world that affect very few people. The problem for the people who are affected by rare disease is that, they have to run from pillar to post, in fact from Doctors to Doctors to get the proper diagnose and to know even the name of disease, which they may not have heard before.

The definition of a rare disease- In USA any disease or condition that affects less than 200,000 persons, In Japan, the number is less than 50,000 people. The world Health Organisation (WHO) suggests that a rare disease can be defined as one with a frequency of less than 6.5-10 per 10,000 persons. Organisation for Rare Diseases India (ORDI) has still has no standard definition. It has been proposed that any disease which affects 1 in 5000 should be termed as rare disease. The problem with rare disease is that even if some one knows the remedy for the same, but it does not attract the Pharmaceutical companies, when it comes to research and to manufacture those medicines, because how many people will buy those medicines.

Now let me brief you about some of the rare Diseases that are prevalent in India:

1 Benign Hereditary Chorea (BHC)-  A movement disorder classified by low muscle tone, and jerky involuntary movements, that affects especially the shoulders, hips and face. A young girl in Mumbai who got this disease had to  drop out of school, as she could not hold the pencil in her right hand. Her symptoms started from the age of 8 and by the time she was 12 , she no longer could speak and there was no movement in her one hand. Even top most doctors could not identify what ails her. Her ailment was diagnosed after 8 years of start, when her blood sample was sent to Medgenome Lab in Bangalore, and they took three months, and the diagnose arrived. There is still no real treatment and the young teenaged girl has been put on some drug trials.

2 Niemann Pick – an inherited disorder that affects lipid mataolism, or the way fats, lipids, and cholesterol are stored in or removed from the body. People with disease have an abnormal lipid metabolism that causes a build up of harmful amounts of lipids in various organs. Symptoms may include- difficulty in moving limbs that may lead to unsteady gait and clumsiness, enlarged spleen, enlarged liver, jaundice at birth (or shortly after), hearing difficulties and intellectual decline, seizures and slurred, irregular speech. A  one and half year old boy in Mumbai was detected with this disease about 3 years back. The parents of the boy did the research and found that some Sweedish Pharma company has developed a drug, but they only send the medicine to Doctors or other Pharma company. The drug cost  Rs 5 lakhs for 90 tablets. The parents could not continue with the treatment as it become too expensive and no insurance scheme cover diseases like Neimann. The boy expired at the age of 7. Parents got worried about their elder daughter and did the test for her also, which was negative, but they know she might be carrier of this disease like them, as it could be by heredity. Parents now run an NGO in their son’s name, where they  counsel and help others with rare disorders.

3 Gullian _Barre Syndrome – a disorder in which the body’s immune system attacks the nerves, quickly leading to Paralysis. A 35 year old lady in Karnataka has been admitted to hospital with this disease for last 4 months. Treatment is available but is very expensive. The hospital’s bill has touched the Rs 20 lakh mark, and the concerned family is surviving  from loans taken from friends and relatives. Now the family is raising funds through an NGO.

4 Pompe – it is genetic disorder due to which the body can not make a protein that breaks down a complex sugar called glycogen, for energy. Too much sugar builds up and damages muscles and organs. Symptoms for infant include-trouble eating and not gaining weight, poor head and neck control, rolling over and sitting up later than expected, breathing problems and lung infections and enlarged and thickening heart or heart defects. In adults (it is called late onset Pompe)- symptoms are shortness of breath, a  hard time exercising, lung infections and big curve in spine. A girl from Karnataka was diagnosed in 2007. Girl is still surviving  but their home in Bangalore has been converted  into mini ICU, family moved from Hubli to Bangalore  to get better access to treatment. Her father  Prasanna Shirol was instrumental in starting ORDI. Her daughter has been in a state of semi coma for last 16 months. She was on wheelchair and ventilator. That’s how she roamed, and even went to Mall with family. She even went to college and studied B Com. The parent gave her the best life possible under the circumstances.

5 Lupus –  A disease in which the immune inappropriately attacks tissues in various parts of the body. This abnormal activity leads to tissue damage and illness. Symptoms include achy joints, unexplained fever of more than 100 deg F, swollen joints, prolonged or extreme fatigue, skin rash, ankle swelling and fluid accumulation, pain in the chest when breathing, a butterfly shaped rash across the cheeks and nose, hair loss or purple finger or toes from cold or stress.

I will be covering more about rare diseases in part 2 of this article tomorrow.

Awaiting views/comments/feed backs on this blog.

Anil Malik

Mumbai, India

4^th Mar 2019.