I was born with a genetic disorder called nail-patella syndrome. It affects a number of things, including absense of patellas and fingernails, kidney and eye sight problems, and limited supination of the elbows, just to name a few.“Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.”
I was the first in my family to be born with it, and since its occurrence is one in 50,000, very few people knew about it. Being told I would never walk as I also had talipes, my parents did everything to prove the doctors wrong. From boots with bars to plasters and bandages, I am now 17 years old and can walk. I couldn’t even start to list the factors that affect me because of NPS.
I never let my physical difficulties affect me: I ran in every cross country and athletics carnival event throughout school. I tried dancing, gymnastics, karate, rock climbing and golf. Only now is it beginning to take a toll on my knees, making it difficult to do things as little as walking up stairs. I play violin, even with elbow restrictions, which should limit me. I also teach and compete at a high level.
I enjoy everything a normal teenager would do as well as playing my violin, trombone, french horn and 1950’s Pin-Up modelling. My dream is to become a scientist and to work in genetics and embryology. I would love to give to people who struggle with genetic disorders as I know personally what it is like to live with one.