The first thought that has crossed my brain seeing this date is that why was the 28th selected why not the 29th of February to symbolize rarity, within seconds I understood that if the 29th was selected rare disease awareness will happen rarely. Slowly I started to comprehend why it is important for people to become aware of rare diseases and started reading articles.
Immediate source of data I could recollect was Movies! Oh yes, I learn more about rare diseases through movies than during my medical education. Don’t we all love watching movies with rare diseases, for example, Paa (progeria), Tare zameen par (dyslexia ), Ghajini ( antegrade amnesia ), My name is Khan ( Asperger syndrome ), Surya vs Surya (porphyria) and the list goes on and on. All these movies were a hit and definitely, all of us have enjoyed watching these movies. So thanks to Hollywood, Bollywood, and Hollywood for already educating us about rare diseases.
- At this point I wanted to share what I learnt this week about rare diseases
- A disease qualifies to be labeled as a rare disease when it affects less than 1 in 2000 people.
- This doesn’t mean there are very few people affected; 300 million people worldwide are suffering from rare diseases
- Saddest part is that cute little innocent children are the ones who are most affected (70 percent)
- There are more than 6000 rare diseases with diverse complaints and even the same disease can behave differently in different patients.
- This year’s theme is for awareness is “Intersections with Rare Diseases – A patient focused event “
Here goes the list of how things are different for these patients
- Struggle to acknowledgment of suffering– Isn’t it soothing to know that what you go through has been going on in other peoples life’s too? but in these patients they do not understand what is happening as its new, nobody acknowledges their complaints so soon, mostly their problems are ridiculed and brushed off as nothing which increases their agony
- Struggle to diagnose -We as doctors generally see what our brain knows, so sometimes we might overlook or undermine a few complaints, as with scanty research and scientific material available on the diseases we often are not trained enough to identify this, so there is a delay in diagnosis.
- Struggle to treat -Once we do the impossible i.e make a diagnosis, we do not know how to help these patients mostly as the treatment options available are less
- Struggle with finances -Thanks to the latest advances and extensive research there are new treatment options available but another problem starts here i.e affordability, these medications are mostly priced high and not everybody can afford this
So these patients struggle and suffer at every phase of life, it’s not just the patient but the whole family involved.
Let’s pledge to learn, understand, acknowledge, and help these patients and families socially, emotionally, and economically.
Dr. Bhavya Bayana
Qualification: MS, MCh
Experience: 6 Years
Specialty: Consultant Surgical Oncology