Against the odds

The story of Karlien Du Preez

I was diagnosed with a rare metabolic disease called Fabry disease only a few months after birth. Initially my prognosis was extremely poor and doctors told my parents that I will not live longer than 2 years or will be severely mentally retarded or brain damaged as a result of the oxygen deprivation to my brain, but I was not going to let the warrior in me silently sit on the back seat.
Unknowingly a huge mountain ahead awaited me with a long list of symptoms including epilepsy, multi-organ dysfunction, renal dysfunction, cardiac disease, angiokeratomas, acroparesthesias, gastrointestinal problems, corneal dystrophy, chronic fatigue, dizziness, headache, generalized weakness, muscle weakness, nausea, vomiting, delayed puberty, malformation vestibular structures, tumors, auditory neuropathy and diabetes contribute to this disease’s burden and negatively affect ones quality of life also leading to severe depression and low self-esteem.
2 Years wheelchair bound, 16 different specialists, 364 Doctor’s consultations, 26 hospitalizations, 6 operations, countless MRI & CT scans, X-rays, ultrasounds, scopes and screens later, I am standing steadfast and better than ever. I am now 14 years old and eventually on the ideal treatment plan that allow me to deal with life at a manageable level. Although I still suffer some symptoms, have a detached jaw and sacrum, I live life to my fullest ability and try to inspire others.
Motivated by the perseverance, patience and commitment of my parents I strive to influence those around me wherever I go. Against all the odds I am now attending a normal academic school and forms part of the top 10 academic achievers in my grade. I came to terms with my lifestyle and the fact that I have a lifelong condition that has no cure at the moment, but try to always remain positive with the believe that I might be able to make a difference one day through my experiences and what I am learning through this processes to possibly change the world for someone else someday. I am a true ambassador for the Rare and those with Rare Diseases.