Four years.
It is the time required, on average, to arrive at the diagnosis of one of the 10,000 rare diseases known to date.
An enormous and precious time that is lost, because a timely start of the available therapies can make a difference in the life of a child who is born with one of these pathologies but also of an adult who is affected by it.
Early diagnosis therefore remains the challenge still open and to be overcome: through research, affirm the patient associations on the occasion of the
World Day of Rare Diseases
which is celebrated on 28 February, but also with greater information.
ANSA. it
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In Europe there are about 30 million rare patients,
two million of which in Italy.
'
We rare patients together - states the Italian Federation of Rare Diseases Uniamo on its website - would fill a 175 km subway, the San Siro stadium 25 times, St. Peter's Square 7 times and the Arena di Verona 90 times". In 70% some cases are pediatric patients and 72% of rare diseases have a genetic origin, the others are the result of infections, allergies and environmental causes.Rare but many, therefore, and the open questions are varied.
"The recent green light to the National Rare Diseases Plan 2023-2025 - says Ilaria Ciancaleoni Bartoli, director of the Observatory for rare diseases (Omar) - represents a huge step because it aims to improve access to therapies, overcome regional inequalities, effectively exploit networks, fully implement Law 175/2021 for the treatment of rare diseases and for the support of research and production of orphan drugs.However, approval by the Conference of Regions is still lacking and we hope that there will soon be a decree for adequate funding".
To date, "the biggest obstacle still remains the diagnosis: for this - notes Bartoli - the newborn screening for
Early detection of these diseases is essential and needs to be expanded and strengthened throughout the country.
To date, 48 rare diseases are being researched.
Law 175 provides for an update of the diseases for newborn screening every two years, but the list has not been updated since 2016 and in the meantime at least 10 other rare diseases have met the criteria to be included, so much so that some Regions have included them, starting from the Sma, but strong territorial differences are created which must be resolved".
In fact, while awaiting the update of the national panel, 16 Regions have moved on their own.
Leading the ranking of those that have increased the number of rare conditions sought is Puglia with 10 pathologies more than what is foreseen at a national level;
followed by Abruzzo (7), Veneto, Friuli Venezia Giulia and Tuscany (5).
Another issue is that of the exemptions, which are not applied to all pathologies, and it would be necessary, says Bartoli, "also to provide for the examination of the genome in the essential levels of assistance in cases in which a diagnosis is not reached: with a cost of approximately 500 euros, the problem can be identified in 70% of these situations".
Furthermore, "it is crucial to focus on training, so that doctors can recognize the alarm bells
However, scientific research remains at the center of everything, the real hope to one day arrive at the cure of many rare pathologies.
And at the forefront is the Telethon foundation.
The resources that Telethon will allocate to the financing of 35 research projects in rare genetic diseases amount to 5.27 million euros.
A significant portion, announced the foundation a few days before World Day, will go to investigate the still unknown or only partially clarified mechanisms of genetic diseases still without a specific treatment, but there are also projects focused on potential therapeutic approaches.
