Rare Disease Day will be celebrated on February 28, 2021, which is estimated to affect over 1 million people in Italy. This year’s slogan is “Let’s join forces”.
This year is celebrated on February 28, 2021, all over the world, the rare disease day. Diseases which, taken individually, affect few people – the definition provides in Europe less than one case for every 2000 people – but overall they constitute a problem of very relevant social dimensions. With absolutely unique challenges.
This year the key message of the day (which is organized on the last day of February, the “rarest” month there is, with its anomalous 28 days, which become 29 every four years) is marked by union and collaboration: “Let’s join forces”. The measures imposed by the health emergency will not allow events to take place in the presence, but together it will be possible to bring everyone’s attention to rare diseases. In any case, online events will take place and can be used the campaign hashtags: #rarediseaseday #UNIAMOleforze and tag @uniamomalattierare and @eurordis.
To find out more, you can consult the dedicated page on the Rare Disease Day website.
In this article
Rare diseases, how many there are and how many people they affect
Rare diseases are altogether approx 6-8000, and for the vast majority they are of genetic origin. It is estimated that they are affected as well 300 million people in the world and 30 million in Europe.
In Italy, according to the regional registers and the report MonitoRare Report 2020 of the Federation of Associations of People with Rare Diseases of Italy (Uniamo) in Italy i there are almost 2 million rare patients.
About half of the patients are children, and 30% of them have a life expectancy of less than five years
Challenges for Rare Patients: Diagnosis
One of the main challenges facing someone with a rare disease is getting one timely diagnosis: first fundamental step to be able to have one prognosis (i.e. imagine how things will go in the future, if there is room for improvement or the situation is bound to get worse) and, of course, of a therapy.
Yet obtaining a diagnosis is not so simple: a note from the Bambino Gesù Pediatric Hospital in Rome underlines that sometimes it can take a few years, with an average delay of 2-7 years, while two out of three patients are initially misdiagnosed.
Not surprisingly, the Telethon Foundation, which deals with rare diseases, launched a program dedicated to undiagnosed diseases in 2016, to try to finally give a name to diseases that, even after various investigative efforts, still do not have it. have. In recent years, the program’s experts have treated about 228 patients without diagnosis, arriving at a solution in 58 cases.
The good news, however, is that for over 40 rare diseases it has become mandatory by law birth screening: it is a simple test that can save the lives of many children, or allow them to live a normal life, rather than burdened by severe disabilities and disabilities.
According to what was declared in an interview with OggiScienza by Ilaria Ciancaleoni Bartoli, director of the Rare Diseases Observatory, to date they are available for patients with rare diseases 94 specially studied drugs. However, only a hundred out of more than 7,000 diseases today have a therapy, while all the others are waiting for the medicine to bring news for them too.
Exemptions, tax benefits and other possible benefits provided by law: many rare patients can actually benefit from them, but it is not always easy to do so. Clashing with the complexity of the rules, the quibbles of bureaucracy, legislative gaps can put a strain on patients and their families.
Many patient associations offer a hand in this regard and since 2018 the Rare Diseases Observatory has activated a legal desk – On the rare side – with an updated section of questions and answers on these issues and the possibility of contacting an expert free of charge to expose your situation.
Faced with so many challenges, there are also many possible approaches to address them: first of all, more awareness on the topic of “rare diseases” by everyone (patients, citizens in general, public decision makers and politicians), more commitment to recognizing these conditions as a priority of public health e more research, to find increasingly immediate and effective diagnostic and therapeutic solutions.