In view of World Phenylketonuria (PKU) Day, which is celebrated on June 28, BioMarin presents the video ‘Behind my choices’, based on real stories from several patients and caregivers, at the conclusion of an information and awareness campaign on quality of life, the difficulties and unmet needs of those who live with this rare metabolic disease of genetic origin which accompanies those affected throughout their existence. Pku – we read in a note – limits the body’s ability to metabolize protein foods, in particular those containing phenylalanine (Phe) which, if accumulated, can lead over time to even serious toxic effects that affect neurocognitive abilities. This is a condition that affects approximately 1 in 10 thousand newborns in Europe, while in Italy the patients are approximately 1 in 4 thousand.
“We know – explains Alberto Burlina, director of the Regional Center for Hereditary Metabolic Diseases of the Veneto Region, Uoc Director of Hereditary Metabolic Diseases of the Ao of Padua – that Pku, if not treated adequately, can cause learning and memory problems, motor disorders and mood – anxiety and depression, but also hyperactivity and aggression – and even cause a neurocognitive delay. It is therefore essential to periodically monitor phenylalanine levels, but also to maintain a constant dialogue with patients to evaluate the ability to manage the disease. , therapeutic adherence and the possible onset of neurocognitive problems”. The primary therapy of Pku consists of a strict low-protein diet with foods containing synthetic amino acids, with the aim of reducing and maintaining phenylalanine levels within the limits recommended by European guidelines, based on age.
In Italy, PKU has been included in mandatory neonatal screening since 1992: this has allowed important progress to be made in the early diagnosis of the disease and in the inclusion of patients in the correct treatment path. However, there are still many people, born before that date, who received a late diagnosis and who have had, and continue to have, cognitive difficulties. Furthermore, those undergoing treatment also face difficulties that make adherence to the dietary regime less effective. “Dietary intervention for Pku, currently identified as the primary therapeutic approach – Valentina Rovelli, Ao San Paolo Pediatric Clinic, Asst Santi Paolo e Carlo, University of Milan – can have a strong impact on the quality of life of patients, as it is limiting strongly on food choices in a patient’s daily life situations, school, work, social life. This, in the long term, represents one of the main reasons why patients often reduce their adherence to the dietary regime, with damage to their health. due to the increasing accumulation of the toxic effect of phenylalanine”.
The video ‘Behind my choices’, based on real stories that several patients and caregivers have shared, responding to a request promoted online and on social media with a communication campaign ‘Knowing PKU’, intends to show the challenges, difficulties and the commitment that patients and caregivers face every day in managing the disease. Representing the Italian patient associations – Amegep Domenico Campanella Odv; Comet Asmme; Comet Emilia-Romagna Odv; Ammec; Aps the Ape Pku Association – Campania and Iris – the vice-president of the Italian Association for the support of hereditary metabolic diseases (Aismme), Manuela Vaccarotto, observes: “From the moment of the neonatal diagnosis of Pku a path begins that accompanies families and patients throughout their lives. It is therefore essential not to leave patients and their families alone to manage the burden of the disease; the task of patient associations is to facilitate the sharing of experiences, the exchange of information and good practices to help them face a challenge that remains complex”.
Promoting greater awareness and information about Pku, not only among patients and their families, but also among institutions, healthcare workers and public opinion, is therefore important to create the conditions for better management of the disease. “BioMarin is deeply committed to scientific research and the development of drugs to help patients suffering from Pku and those who care for them – concludes Maria Tommasi, Senior Medical Director of BioMarin Italia – Our new video campaign intends”, also for this reason, “showcasing the life stories of people with PKU and the realities they face living with a rare genetic condition.”
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