Konstantinos is a young boy who has just come of age. He has been diagnosed with nephropathic cystinosis, an ultra-rare, progressive, multisystemic disease that usually appears in the first few months of life. This metabolic disorder is due to a genetic mutation that causes the accumulation of the amino acid named cystine in the lysosomes of cells1.
When cystine builds up, it forms crystals within cells that can cause progressive and irreversible damage to all organs. It is a life-long condition, early diagnosis and optimal care are fundamental for a better prognosis and quality of life. Raised in Greece in a small town not too far from Thessaloniki, Konstantinos recently moved to the city – where we met him – to begin his university studies in physics, which is one of his passions.
We were in Greece and driving towards Konstantinos’ house. Then, we saw him on the pavement, walking with a big backpack on his shoulders. A little later we met him, and we saw a very sweet, yet determined, young man. I felt that he is just like his beloved Rubik’s cube: complex but perfect.
INTERVIEWER
DISEASE
PP-G-1375 V1.0, Date of preparation: December 2023 | ALL_23_411