In Italy 100,000 people “undiagnosed”

They are sick, but they cannot name their diseases. They struggle to understand which centers of reference to turn to or to find other people who share the same experience, and also for their rights to be recognized. They are the people, about 100 thousand in Italy, “without a diagnosis”.. For them, there is a dedicated world day, which falls on Saturday 30 April. To raise public awareness about this issue, theBambino Gesu Children’s Hospital And Rare Diseases ObservatoryIn cooperation with the HOPEN Foundation, they organized a conference Who gave voice to the needs and requests of these patients, but also of the clinicians and researchers who support them every day in the diagnostic saga. Conference has been held Thanks to the non-adaptive contribution of Farmindustria and Thermo Fisher Scientific.

According to the National Institutes of Health, the people who go undiagnosed are about 6% of rare disease patients — hence the estimate. 100 thousand for Italy – 40-50% if we consider only rare pediatric patients with mental disabilities or syndromic forms (data from the National Institute of Health – NIH). “Diagnosis is one of the mainstays in the path of those with a rare disease, but it is also the first major hurdle that must be faced: on average up to 4.8 years late, 1 in 3 patients receive a misdiagnosis with consequent inappropriate treatments and even after So there is still a segment of people that have not reached a diagnosis. The good news is that things are getting better, especially thanks to new genetic and genetic analysis tools, which today cost up to 100,000 times less than 20 years ago. – explained Professor Bruno Dallapicolascientific director of the Bambino Gesu Children’s Hospitala hospital that in 10 years has finally managed to diagnose 1,000 children and adolescents – Today, thanks to these investigations, we can diagnose about 2 out of 3 cases, and the goal now is to do so in shorter and shorter times.“.

The disease is present, but it has not been diagnosed, so it has no name. This makes the patient and his family invisible. Like POLIFEMO who asks Ulysses: Who are you? This answers: there is no. Here’s the undiagnosed: none“, Like Federico Maspes, President Hobin Foundation, describe this case. “At first you were groping in the dark, not knowing what to doremember masps, who has lived through what he calls “endless ordeal” since his daughter Clementina was born in the 1990s. “At eight months he had a delayed weight gain and began a bumpy journey consisting of misdiagnoses, denials, hasty hypotheses, and endless rounds between specialists. A common path for many – He said maspsKeep doing this until someone warns you that your daughter may not be diagnosed. It took years to get out of the tunnel, and only finally did I realize that my wife was right to devote her love to Clementina, while I frantically searched for an answer, without being able to enjoy it, to accept it.From this the HOPEN Foundation was born. (Here to know Date to the activities From the HOPEN Foundation), which has decided to become a point of reference for all those families who live without being able to rely on the certainty of the diagnosis, ensuring the essential starting point for taking charge, rationalizing the therapeutic course and enjoying the benefits provided by law.

HOPEN has been collaborating for years with the Bambino Gesù Children’s Hospital, where there has been an outpatient clinic for rare patients without diagnosis since 2016, within the Rare Diseases and Medical Genetics Operating Unit managed by Dr. Andrea Bartoli. “Since its opening, the clinic has treated more than 1,670 patients, 400 of them in the last year alone, 10% of the total seen in the hospital. – said the Andrea Bartoli, Head of Rare Diseases and Medical Genetics, Bambino Gesu Children’s Hospital It is not always possible to name the disease, but tremendous progress is being made thanks to increasingly updated diagnostic tools and accumulated experience. Suffice it to say that if 30% of patients presented to the clinic reach a diagnosis in 2016, the proportion in 2022 is almost 70%, more than double. This is also thanks to advances in exome sequencing, which we applied to 700 families between 2019 and 2022, arriving at 455 new diagnoses. Identification of the gene responsible for or involved in disease development is important for families directly affected, but it is also a progression for science and society. Thanks to the activity of the Laboratory of Medical Genetics, directed by Dr. Antonio Novelli, and the field of research directed by Dr. Marco Tartaglia, it has become possible in these years to discover new disease genes, and this will also allow us to re-evaluate “unresolved” cases in the light of recent discoveries: It’s a bit like working out and trying to solve colds from rare diseases. Thanks to the creation of a specific database, it has happened repeatedly to call patients after years, and finally to be able to give them an answer, thanks to this new knowledge. However, diagnosis is not just an access point, but also a stepping stone to researching treatments, building animal models, and then moving on to real trials that hopefully will lead to effective treatments for these as well. rare cases. Because everyone should have a chanceIt has happened several times, in fact, that people who have not received a diagnosis in the past, after the discovery of new genes and diseases and greater knowledge of the associations between mutations and symptoms (genotype-association-phenotype) have been called and have been able to give a name to their pathology.

In addition to seeking a diagnosis, and thus the ability to hope for future treatments, people with rare, undiagnosed diseases also need a health and social care facility that is able to consider the needs of their particular condition. He stressed that he is among them Federico Maspes, President of the Hubin Foundation: “The diagnosis may never arrive, in the meantime, we need a code that makes us known in the health system and gives us access to rights: first of all, the definition of an exemption code for non-medical diseases. diagnosed, just like many rare and chronic diseases that are diagnosed. The law would allow access to exemption from required genetic testing, facilitate requests for access to school support and Social Security, with a traceable reference to activating retirement and disability allowance practices. The provisional R99 code is currently in place, valid while waiting for a suspected rare disease check, but is applied in a way that is not fully standardized between regionsThe code is just one of the requests recently brought to the attention of the Ministry of Health by Senator Paula Bennetti, Chair of the Parliamentary Group on Rare Diseases with A QuestioningBut the needs of the “ghosts of rare diseases” are many. “need to argued SenatorTo be given an even greater boost to genomics, by including all these diagnostic investigations in the LEA. Getting a diagnosis is often the key to accessing effective medical and social care, but ironically, if there is no diagnosis there is not even a code number and therefore some next generation tests are not accessible. Expensive but undoubtedly more accurate, like genetic testing, and not related to many other rights that belong, instead, to those with a code“.

The call for more investment in genomics, and not just in the field of oncology, is therefore widely shared by patients, researchers, institutions and also by the business world. In fact, he also expressed himself in this case Marcelo Cattani, Farmindustrial Rare Diseases Working Group Coordinator.In the field of rare diseases, it is necessary to share knowledge also at the international level, while creating networks between the different centres. Because to get approval for an orphan drug it is not enough to study the molecule, we must first understand how the disease works. From this point of view, pharmaceutical companies are at the fore, committed to advancing the science of the domains in which extraordinary therapeutic innovations are expected. A process that can be supported and accelerated by the European Orphan Drug Regulation thanks to the acquisition of over 2,500 orphan drug designations and over 200 rare disease drugs since its approval in 2000 until 2021. It has a positive impact on the health and lives of millions of rare disease patients in Europe . For this reason, it is imperative that any revision of the regulation continues to favor research and development of new treatments in such a delicate and complex field.“.

At the end of the conference, a Dr. Antonio Gaudioso, Head of the Technical Secretariat of the Minister of Healthwho thanked him for the invitation and for the constant dialogue and discussion with the Observatory for Rare Diseases and declared: “There is not always the possibility of providing a definitive answer to patients’ needs, but when science and technology give us choices, it is our duty to make them usable. We recognize that in many cases there have been delays in making diagnostic and therapeutic innovation available to citizens and are working to make sure these times disappear drastically. Thank you for sharing with us and for the ongoing discussion with the Ministry of Health, I hope there will soon be an opportunity to come together to deepen these issues and work together if possible.“.

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