Hypophosphatasia: We give patients the opportunity to develop normally and function in society

Medexpress: For years, you have been very dedicated to treating patients with rare diseases. You see how patients' needs are changing with the development of medicine. What does this look like for those affected by hypophosphatasia? How is the picture of their treatment changing?

Prof. Zbigniew Żuber, head of the Department of Pediatrics at Krakow's Andrzej Frycz Modrzewski Academy: We used to have no treatment for many disease entities, including hypophosphatasia. Right now it's a different world with access to causal treatment. We have enzyme replacement therapy used for many disease entities of so-called rare and ultra-rare diseases. This is a phenomenal development because we are able to help the patient. And the patient, if he or she is aware that help will be given and he or she will be well diagnosed, will not change life dramatically. Because the needs of children and adolescents are constant, they want to develop and function to their full potential. One patient wrote to us in the course of rheumatological treatment, the application of biological treatment, "at last I can jump". Imagine what joy this is for a child who previously could not move, but now can jump. We give patients hope and the opportunity for normal development, that is, to function normally in society, to attend school, to learn and grow (because it's not just growing). For many patients, treatment means returning to a normal, standard life among their peers. Someday such a patient will be educated and work for the benefit of society. That's why it seems to me that this is the best investment it can be - developing modern medical, drug technologies, allowing to treat more and more patients. Hypophosphatasia is waiting for positive decisions, and I hope that in the near future we will have a drug available for it, which is just waiting for registration in the therapeutic program.