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Rare Disease Day, we need a law to protect families

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Rare Disease Day, we need a law to protect families

February 29th is a very special day, which we can only read on the calendar every 4 years. And it is therefore no coincidence that this very day, since 2008, has been dedicated to people affected by the most difficult diseases to diagnose, many of which are still without a name: rare diseases. On this date – and actually throughout the month of February – many initiatives are shining a spotlight on rare disease patients, their needs and those of their caregivers. To remember that, together, all these people are anything but rare.

Rare diseases, story of Veronica who no longer wants to be ‘invisible’ by Irma D’Aria 28 February 2024

Over 2 million rare disease patients

By definition, a rare disease affects fewer than 5 people out of every 10,000. However, there are over 6 thousand rare diseases, with the result that in Italy there are around 2 million people who experience a “rarity” condition first-hand, 70% of whom are children. And according to the National Registry of Rare Diseases of the Istituto Superiore di Sanità, approximately 19 thousand new cases are reported every year. Despite the extreme variety of conditions, rare diseases have something in common: very often it takes years to reach a diagnosis (if at all possible) and in most cases there is no definitive therapy, resulting in permanent disabilities that can degenerate over time and which lead to the need for continuous assistance, with the related costs.

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The program and the law. Still to be updated

In years of commitment to bringing rare diseases out of the shadows, various achievements have been achieved with the commitment of many associations and scientific societies. In 2023, for example, a new national plan for rare diseases was approved by the State-Regions Conference, one of the few specific programs present in Europe. A necessary plan to respond concretely to the needs of patients and their families, which is based on 9 fundamental pillars: primary prevention, diagnosis, pharmacological and non-pharmacological treatments, care pathways, training and information, registers and monitoring systems of the National Network of Rare Diseases, without forgetting scientific research.

Rare diseases, a one million euro fund for genomic tests by Tiziana Moriconi 02 January 2024

Furthermore, Italy has one of the most extensive laws on neonatal screening in the Old Continent. This law (n.167 of 19 August 2016) aims to guarantee the prevention of hereditary metabolic diseases by including mandatory newborn screening in the Essential Levels of Assistance (Lea). To date, extended neonatal screening includes 49 diseases, even if associations report that birth centers are not always able to offer the service for all newborns, and report significant territorial disparities. The law should be updated periodically to include pathologies for which, thanks to scientific advances, evidence of advantages in early diagnosis or effective therapies is available. And yet: the latest update, with the inclusion of 10 additional conditions including spinal muscular atrophy (Sma), should have taken place by June 2021, but there is not yet a document valid for the entire national territory. Some Regions, for this reason, have moved independently to offer the service on their territory.

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We need protections for caregivers

However, there is still much to do. Uniamo – Italian Federation of Rare Diseases, for example, is working on equal access to some treatments in band C (i.e. totally paid for by the patient) and to some food supplements, on the guarantee of home care and rehabilitation interventions which today are essentially at the expense of the patient and family, and on the implementation of tele-assistance and telemedicine services to encourage both patients’ contact with the specialist treatment centers furthest from the area of ​​residence, and the transfer of skills to the more small but close to patients in the area. Among the urgent matters is the drafting and approval of a law to protect caregivers, which a ministerial technical table has been working on since this year, to support the needs and alleviate the sense of loneliness felt by those who care for people with a rare disease. A commitment that often requires reducing every other aspect of one’s life according to the needs of the sick person and which can compromise work, social relationships, sometimes even life as a couple and attention towards other family members.

Rare diseases, two online surveys for patients and caregivers by Dario Rubino 22 December 2023

A day for rare siblings, brothers and sisters of rare disease patients

Another theme dear to all those who work in the field of rare diseases, in fact, is that of the so-called “rare siblings”, the brothers and sisters of people with a rare disease. It is estimated that in Italy there are around half a million, 5% of the population under 16 years of age. As was also underlined at the conference “Rare diseases, rare tumors and the family: how to support caregivers and rare siblings”, held in recent days in Rome at the Chamber of Deputies, it often happens that most of the attention falls on the child who needs more care.

The risk is that the other children feel invisible, not supported in their life paths, hyper-responsible towards the family and at the same time isolated from the social context. For this reason, five years ago the Rare Diseases Observatory – Omar created the Rare Sibling project, which made it possible to collect testimonies, create a listening, support and exchange network and launch investigations to have a more precise picture of the situation. Next goal: establish National Rare Sibling Day.

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