World Rare Disease Day
Rare diseases represent a complex and in many ways still unknown reality in the medical world. There are not many pharmaceutical companies that are committed and invested to find drugs and treatments. Among these the giapponese Kyowa Kirin. In particular, his commitment is on a little known disease and for this reason very often diagnosed late, X-linked hypophosphataemia (XLH) which causes bone deformity and is characterized by severe pain leading to increasing disability. Affected by this disease from the first years of life, the child with XLH, suffer from delayed body development and need prompt diagnosis and treatment. Precisely for this reason, in order to be able to take care of the patient and his family as soon as possible, greater information and sharing among the medical profession are necessary, as well as greater public awareness. Goals that Kyowa Kirin has been pursuing for years and that she wants to renew on the occasion of the World Rare Disease Day. Day that is celebrated on February 28th.
Rare diseases and the creation of the Rare Diseases Observatory
The Japanese company gave its non-conditioning contribution to the realization of #TheRAREside, the social talk created by O.Ma.R. – Rare Diseases Observatory that in 6 episodes, broadcast live on the portal and on the Facebook channel of the newspaper every Tuesday and Thursday until March 3, will present theand stories of those who directly or indirectly experience rarity. On March 3 at 18:00 it will be the turn of XLH, through the voice of a person who moved to Italy as a child, where the doctors of the Bambino Gesù Hospital in Rome were able to diagnose XLH and thus receive appropriate care. Now, in adulthood, she has decided to tell her own story to raise awareness of rare diseases among the general public, like hers. “It’s time to let people talk, to rewrite the words used to describe rare diseases and begin to change the collective imagination. The rare patients have important stories to tell whose horizons are not narrow, as is often imagined. ”, Says Ilaria Ciancaleoni Bartoli, director of O.Ma.R.
Rare diseases and disabilities
XLH is an inherited genetic disorder due to mutations in the PHEX gene that causes significant skeletal deformities from the first years of life, causing disabilities of varying degrees that may require repeated corrective surgery. The disease has an estimated incidence of 1 case per 20,000 inhabitants. “Early diagnosis of X-linked hypophosphatemic rickets (XLH) is critical for prognosis. Parents who notice, from the first months of life, and especially when the child has started walking, that the growth is scarce, the legs are not straight and that he walks badly with frequent falls they must contact the Pediatrician who will evaluate the opportunity to send the child to a specialist, generally the Pediatrician Endocrinologist with experience in bone pathologies – he explains Giampiero Baroncelli, Medical Director of the University Pediatrics Unit of the Pisan University Hospital – If the diagnosis of XLH is confirmed by blood, instrumental and genetic investigations, it is advisable to immediately start the most appropriate treatment. Recently we can count on new therapeutic options that aim to bring phosphate levels in the body back to normal, helping to improve symptoms and quality of life. This is why it is even more important to be able to diagnose the disease in time “.
Rare diseases and early diagnostics
The first doctor to intercept children with XLH is the pediatrician who, faced with failure to grow and the typical signs of rickets, including difficulty in walking and curvature of the legs, requires laboratory and imaging tests and, often, a consultation with the orthopedist. “However, since it is a rare condition, the diagnosis often comes late. It is therefore essential to increase the diagnostic capacity with information campaigns and work tools that can help doctors – says Stefano Mora, pediatric endocrinologist at the IRCSS San Raffaele Hospital in Milan – for example to correctly interpret the results of laboratory or imaging tests, or to trace the family tree of patients and understand how the disease is distributed within the family “.