Rare Diseases 2

RARE DISEASES 2

In continuation to my yesterday’s blog on rare Diseases, let us see some rare diseases prevalent in India

1. Paediatric Rheumatology- It is  disease relating to rheumatism, arthritis and other disorders of joints, muscles and lingaments in very young children. Generally  Rheumatism disease is associated with old people, but in rare cases it has even affected young children. As per Doctors, diagnosing such type of rare case is not an easy order. This requires much of learning, by following  medical papers, attending medical conferences etc and sitting in on sessions where rare cases are discussed
2. Haemophilia- it is an rare disorder that affects the blood’s ability to clot. It is usually inherited and mostly affects the males. The main symptom is bleeding that does not stop, also called prolonged bleeding. Other symptoms include skin that bruises easily, pain and stiffness of the joints-such as elbows-because of internal bleeding, blood in urine, stool etc. This requires immediate medical attention.
3. Thalassemia- it is an inherited blood disorder that reduces the production of haemoglobin, the protein molecules in Red blood Cells (RBC), that carries oxygen. This disorder result in excessive destruction of RBC, which may lead to anaemia. Some of the common symptoms of this disease are dark urine, delayed growth & development, fatigue, yellow or pale skin, bone deformities etc..
4. Sickle Cell Anaemia- or sickle cell disease, is a group of inherited conditions that affect RBC. Usually symptoms develop at young age and may appear in babies as young as 4 months old. Common symptoms are jaundice, swelling and pain in hands and feet, frequent infections, bedwetting (from associated kidney problems) fussiness in babies, irritability of fatigue etc. It is a serious and life long conditions, although long term treatment can help manage many of the problems associated with it. Patients with this disease will need specialist care throughout their lives.
5. Cystic Fibrosis- this is also an inherited condition which causes severe damage to the Lungs, digestive system and other organs in the body. Its symptoms usually occur in early childhood and vary from child to child, but it worsens over the time. Symptoms include wheezing, coughing, shortness of breath and damage to the airways, recurring chest infections, inflamed nasal passages or stuffy nose, exercise intolerance, poor weight gain and growth, severe constipation. There is no cure for this conditions, but treatment can help ease symptoms and reduce complications.
6. Sarcoidosis– it is an inflammatory disease that affects multiple organs in the body, but mostly the lungs and lymph glands. Symptoms include- tender reddish patches on the skin; blurred vision and red eyes; swollen painful joints; enlarged lymph glands in the neck, armpits, groin, in the chest around lungs; kidney stone formation; enlarged liver; missed heart beats etc etc.

The problems with all the types of rare diseases are that it becomes really difficult for the doctor to diagnose the particular rare disease, generally it may take months to diagnose and for that patient had to go in for numerous medical tests. The other problem being getting the proper doctor, who had earlier seen these types of rare disease. I remember when my better half had a symptoms similar to  Sarcoidosis about 8 years back, it took us more than few months to reach the proper doctor, who after series of various medical tests confirmed that she is suffering from Sarcoidosis, and by that time almost 3 months have passed. In the end her treatment started and continued for more than a year.

Dr Girisha of Kasturba Medical College, Manipal says that these diseases are also called orphan diseases, as that they find no takers. Because nobody wants to invest their time and energy on research as there are hardly few patients of these kinds of diseases. He further admits that he and his team have discovered at least 15 such rare diseases and only 4 have been sent out to medical media.

As per the information, by the end of 2104 there were 400 FDA approved “orphan drugs” available in USA market, and 100 drugs approved by European medicines Agency (EMA). Totally they covered 11 millions patients suffering from rare diseases, leaving majority with no options for treatment.

In India situation is really pathetic, as Organisation for Rare Diseases (ORD) is still in a nascent stage and Indian Drug Authorities have still not waken up to this problem. Other problem being faced by patients and their family members are because of casual attitude of authorities, the medical insurance providing companies have still not covered these types of rare diseases. So in the end, even if patient is having Mediclaim policy, no insurance company gives reimbursement, because they may not have heard  about them.

So in the end friends, that the fact of the matter is, you must pray that you and your family members never suffer from any of the rare diseases because in our country the treatment for rare diseases are very expensive and many of even so called specialist doctors are not equipped to handle these type of diseases. I hope ORD acts very fast and do the needful for the patients who are suffering from these rare diseases, in fact  it will be more relief to the family members, who take care of the patient.

Friends in the end, I hope that by reading this blog, you must have gained knowledge about rare diseases.

Please do write your comments/views/feed backs, in the space provided at the end of this blog.

Anil Malik

Mumbai, India

5^th Mar 2019.