International Rare Disease Day is on the 28th of February 2021, and KmotivationSA is getting involved. Being RARE, by definition, infers being unique, highly valuable, and possessing admirable or exemplary qualities.
A rare blue diamond … Worth millions.
A rare species … Highly sought after.
A rare discovery … Highly newsworthy.
Except for Rare Diseases which are considered a financial burden, are overlooked by society and forgotten by the media. The truth is that we are all RARE to some degree. We all have unique qualities, talents, features, and abilities that make us different, and yet similar for that exact reason. This is something that deserves to be celebrated! Everyone is rare, individual, unique, and beautiful in their own special way.
Rare is special to me as I have a rare disease which is SMA. Spinal muscular atrophy (SMA) is a group of inherited disorders characterized by a loss of certain nerve cells in the spinal cord called motor neurons or anterior horn cells. Motor neurons receive the nerve impulses transmitted from the brain to the spinal cord (brainstem) and, in turn, transmit the impulses to the muscle via the peripheral nerves. The loss of motor neurons leads to progressive muscle weakness and muscle wasting (atrophy) in muscles closest to the trunk of the body (proximal muscles) such as the shoulders, hips, and back. These muscles are necessary for crawling, walking, sitting up, and head control. The more severe types of SMA can affect muscles involved in feeding, swallowing, and breathing. SMA is divided into subtypes based on the age of onset and maximum function achieved. SMA types 0, 1, 2, 3, and 4 are inherited as autosomal recessive genetic disorders and are associated with abnormalities (mutations) in the SMN1 and SMA2 genes which are located on chromosome 5. However, my #shareyourrare is my ability to talk to anyone about anything! I’m so into communication that I got my honors in it. I can bend my fingers in strange directions – like I am missing bones in my fingers. I’m so rare I managed to break my foot without ever standing on it.
Share your rare on your social media platforms and tag Rare Diseases South Africa and Rare_Aware.; Challenge your friends or followers to do the same, and check out www.rareaware.africa for more details.
