the open challenge for over two million Italians with a rare disease- time.news

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The goal is to save hours, money and energy spent to reach hospitals (often several times a week), with advantages also for the national health system. The Lost moments campaign is underway

Rare diseases are a very large and diverse group of diseases, affecting a small number of people and consequently causing specific problems related to their rarity. Having an infrequent disease entails greater difficulties from the beginning: longer times (sometimes even several years) to arrive at a correct diagnosis, to reach doctors and specialized centers and, almost always, to have an effective therapy. Because scientific research on these pathologies is also often slow, hampered by the complexity of collecting both information based on a few patients and financial funds that support it. Simplifying the life of patients with home therapies and a network of assistance in the area, bringing treatments and controls as close as possible to home in a uniform way throughout the national territory is a decisive step, which has already been partly taken thanks to the pandemic of COVID-19. The Lost moments campaign was born from these assumptions, conceived by Sanofi with the patronage of Uniamo Italian Federation of Rare Diseases Onlus which aims to raise awareness on the issue of rare diseases and affirm the importance of home therapies, so that every patient can fully live every moment of their life.

The 50 Very Rare Lysosomal Storage Diseases

According to a study published in the European Journal for Person Centered Healthcare, one in three patients suffering from rare lysosomal storage diseases is absent from work to give the infusion and in 50% of cases is accompanied by a caregiver who, in turn, must have recourse to holidays or work permits. Thus, on average, two hours and 40 minutes are lost to reach the hospital and wait for the administration of the therapy: a commitment that involves the need to request work permits and exemptions and concerns the whole family. Lysosomal storage diseases are a group of 50 different very rare inherited genetic diseases which, if not promptly treated, cause irreparable damage to various organs. Enzyme replacement therapy should be administered throughout life, once a week or once every two weeks, with an average infusion duration of 3-4 hours. If the patient is a child, this means a loss of school attendance for one day a week or one day every two, associated with the missed working day for the parent, as happens to the professionally active adult patient. A reality that affects millions of people, because it is common to so many rare diseases (over 6 thousand are those registered by the World Health Organization) which together have 300 million patients all over the world.

Two million rare patients in Italy

Those suffering from a rare disease (which often has a genetic origin and strikes in early childhood) forced to sacrifice a large part of their working or free time and their energy for treatment – underlines Annalisa Scopinaro, president of Uniamo Italian Federation of Rare Diseases – . Patients are unable to live their lives to the full, missing out on many important moments. Of the more than two million rare patients estimated to live in Italy, only a few have treatments: even research is slower because the resources dedicated to studies are lower and it is more difficult to gather information from the few cases. One of the needs most felt by these people, then, is to be able to take care of themselves at home: home assistance as well as telemedicine are essential tools for families and it is necessary that everyone can have access to them. The evidence collected so far shows that taking care at home is an alternative, as well as a valid one, appreciated both by patients (so much so that 95% of the participants in the study recorded an improvement in the perception of their quality of life) and by hospitals. , often far from home, involves an excessive overload for patients and families, both financial and psychological – adds Scopinaro -. We hope home care will soon be a reality also thanks to the approval, on November 3, 2021, of the Consolidated Law on rare diseases.

Advantages of home therapy

Research indicates that allowing the patient to carry out the treatment in their own home and in flexible hours benefits the quality of life and the social, school or work dimension. It also ensures continuity of care and adherence to therapy, essential for these fragile people in order not to compromise any progress and lead to an aggravation of the disease. And if staying at home improves the psycho-physical well-being and helps to better deal with therapy, the health service also derives a great economic advantage, represented by the elimination of day hospital costs, with the possibility of having nursing staff available for other functions. or emergency situations. The Lost moments campaign (centered on a video available on the malattielisosomiali.it website) was born on the occasion of the 10th anniversary of the Sanofi Genzyme home therapy service dedicated to patients with rare lysosomal storage diseases, being treated with the company’s infusion drugs. The Tutor program supports the treatment of four rare diseases: Gaucher disease, Anderson-Fabry disease, type I Mucopolysaccharidosis and, thanks to AIFA nr 341/2020 of 30 March 2020, also Pompe disease. Over time, the support program has been added to this service for patients undergoing treatment with the first first-line oral therapy for Gaucher disease, called Qui per Te, an educational and therapeutic adherence monitoring service active throughout the National territory.

November 29, 2021 (change November 29, 2021 | 19:48)

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