What is the dilemma faced by patients in handling rare diseases?
What is the dilemma faced by patients in handling rare diseases?

What is the dilemma faced by patients in handling rare diseases?

In a country like India where the majority of people believe in using homemade remedies to treat problems like fever, headache, etc, they fail to understand that these medical issues can be symptoms of various diseases like cancer. They are ignorant of the fact that they need to see a doctor if any such medical issue prolongs as they can be fatal.
The dilemma faced by patients in handling rare diseases is many. It begins from the delay in the detection of the disease to its late treatment. The patient or the caregiver ignores the symptoms which leads to a delay in detection of the disease. Even if they visit a doctor, surprisingly at times doctors too are unable to diagnose it rightly.

The biggest plight is that certain diseases like sarcoma, malignant melanoma, etc are so rare that their detection is not so easy and requires the patient to undergo a number of tests. These tests might detect the disease or may create more perplexity for the doctor and the patient which results in more tests.
Another challenge for the patient is the knowledge of the disease. Being a rare disease, the patient is short of information about it and faces lots of problems in understanding the complexities of the disease whether is curable or incurable, whether metastatic or non-metastatic, etc. He doesn’t know which doctor he needs to visit and most importantly whether the treatment for such a disease is available in their city or not.


My mother was a metastatic malignant melanoma patient. She had a mole on her left foot which she ignored initially and later started bleeding and became black. I took her to my family doctor and he told me that this requires to be operated on and sent for biopsy. That day for the first time I got to know that if there is a black spot on any part of your body, you should never ignore it. We then got the surgery done and through biopsy got to know that my mother was suffering from a disease named Malignant melanoma which is a very rare disease in India. Even a minute before I had never imagined that my mother would be suffering from such a deadly disease. The next step to be taken was obviously to ask my doctor where do I need to go to get her treatment started. He advised me to follow a proper channel by visiting hospitals one by one i. e.  first I must visit PGI, then Aiims, and lastly Tata Memorial. I did the same. The oncologist at PGI advised us to go for the wait and watch. Being ignorant of the repercussions, I followed the doctor’s advice. 8 months later my mother had a recurrence this time in her abdomen.

Ironically it took around more than a month for me to visit the right doctor as I was sent to the gynecologist department to get my mother’s check-up done. But then I finally got the right oncologist though it was too late. She was diagnosed in 2012 and she passed away in 2016 but till 2015 she lived a healthy life as I tried my level best to keep her vitals normal.

To everyone’s surprise, my mother never got to know till the end of her life that she was a cancer patient and I think that kept her spirits high. Truly speaking a disease kills a person later, one kills oneself with the fear of the disease before. The fear of death, then the delay, and the late treatment kill the person half as it leaves him into despair that he won’t be able to survive since the disease is rare and deadly. So it is important not to let the patient get into depression.
As a caregiver,  I truly believe that it is too difficult for a patient and his caregiver to handle the challenges faced by them when they are diagnosed with such rare diseases. A lot of awareness is required for everyone because if they are detected early or timely,  they can be treated rightly and a lot of lives can be saved. Only what one requires is awareness and knowledge of such rare diseases which are treatable but only when diagnosed in timely.

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