Shreeya Mashelkar

Third Year MBBS

Grant Government Medical College, Mumbai

 

It was just another day in the month of  May. Blades of grass shone with morning dew under the sun. As Mary sat in her porch chair overlooking the front lawn, she heard the approaching footsteps of her granddaughter on the wooden floor. The six year old had been busy freezing ice cubes the day before. A camera and a bucket full of ice cubes ,half melted into water by the summer heat now, but she was all set. ”Could you please film me while I do this challenge grandma?”, Penny asked, handing over the camera to her. She nodded as she got up from her chair, still a little perplexed at what exactly this young one was so excited about.

“Hey everyone! My name is Penny and I’ve been  nominated to take the Ice Bucket Challenge by my friend Sarah Archer . Here I am about to take it though I’m a day late.”, she spoke as grandma hit the record button. ”Now this is in order to raise awareness for ALS which is a form of motor neuron disease which has a devastating effect on people’s lives. So please donate generously  to the ALS Association. And she picked up the bucket full of ice, pouring it over her head, sending shivers down her spine. ”I’ve done my bit towards this cause, have you? I further nominate my friends Alex and George to take this challenge like I did.”

A drop of water rolled down her wrinkly cheek. It was a bitter sweet moment for the old lady holding the camera. She wiped off the tear before Penny could notice and rushed towards her with a towel and a warm hug. As she proudly hugged her dear one, she couldn’t help but be reminded of her late husband.

She could faintly recall the first time he’d approached Mary. ”Honey, I think I’m losing strength in my arms.”,said John. At first she didn’t think much of it, but his condition began to worsen rapidly .He developed a limp in his feet, his arm and chest muscles twitched constantly. So they decided to visit their family doctor nearby. The doctor gave them a referral to the tertiary care hospital on noticing the weakness and muscle loss in John. It wasn’t until a neurologist diagnosed him of ALS a year later. A rare disease with no definitive treatment, with prognosis of not more than 3 to 5 years to live on an average. Waiting for the disease to break you bit by bit, muscle after muscle while waiting for the inevitable death.

A year of endless hospital visits, manifold tests and inconclusive diagnostic reports .A year of uncertainty, cluelessness and apprehension about her own husband’s health .Only to learn that it’s an orphan disease. The one lesser  known, with no awareness, lack of timely diagnosis and limited treatment ,just because fewer people have it. Seems unfair, doesn’t it? In a world where ‘Health’ is a human right, why isn’t every disease being treated equally?

“A rare disease is one which affects one out of 2000 people in the population or lesser” ,as per WHO. ’Rarity’ is a key concept on which the orphan disease definition rests. Thus the definition clusters a mosaic of diseases below a certain frequency threshold, regardless of their cause or symptoms. An estimated 350 million people are affected by a rare disease worldwide. They are far more common than one can imagine. Over 6000 diseases, to which more are being discovered over time, but each affects a tiny number of people. This makes rare diseases a global health issue.

Rare diseases became known as orphan diseases because pharmaceutical companies were not interested in adopting them to develop treatments. FDA Orphan Products Grant programme, EU Seventh Framework  programme are a few examples of clinical funding programmes which remain essential for orphan drug development. The National Organization for Rare Diseases (NORD) is dedicated to helping people with rare diseases and assists other similar organizations which serve them in doing the same. The Office of Rare Disease Research at National Health Institutes coordinates research and information on rare diseases. There are a number of NGOs, advocacies, patient support and assistance programmes around the world working with the common strive of battling against rare diseases. But most of these organizations rely heavily on donations and need more exposure to be known worldwide.
For many rare diseases the basic knowledge like cause, natural course of the disease and epidemiological data is limited, or worse missing. This significantly hampers the ability to diagnose and treat a disease. Most physicians won’t hear about majority of the rare diseases and have an even lesser chance to diagnose an affected patient. Fragmented knowledge and limited research material, means it’s critical that investments in fundamental research go hand-in-hand with investments in international and national networks. So that these networks can provide effective health education and opportunities to train health professionals on rare diseases.

The last day of February, every year, has been designated Rare Disease Day. A day  to raise awareness amongst the public, researchers, health  professionals and policy makers about the impact these diseases have on the lives of those affected by them. For the individuals and families affected by conditions like beta thalassemia and muscular dystrophy – potentially fatal genetic disorders – every day is Rare Disease Day.They live with the reality of these problems every single day.

It’s time we do our part as a person, a member of humankind and at the very least spread awareness, support organizations .Give the phrase “Health for All” it’s true meaning ,live by it  and justify it through our daily actions and contribute whole heartedly.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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