(Adnkronos) - Per la diagnosi delle epilessie rare “negli ultimi anni sono venuti in aiuto i test genetici che permettono di dare un nome a buona parte delle patologie con cui dobbiamo confrontarci. Uniformare l’applicazione dei percorsi diagnostici terapeutici”, i Pdta, “in tutte le regioni, rappresenterebbe il meglio dell’assistenza” per i pazienti e “le loro famiglie”. Lo ha detto Laura Tassi, past president Lice, Lega italiana contro l’epilessia, è intervenuta a Roma all’incontro 'Oltre l'epilessia: le sfide delle epilessie rare e complesse', promosso da Adnkronos Comunicazione con il contributo non condizionato di Jazz Pharmaceuticals.
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00:00Diagnosis
00:04Diagnosis is done in rare diseases, especially in the pediatric age.
00:08Unfortunately, not all rare diseases, as we know, are correctly diagnosed in the pediatric age.
00:13When the pediatric patient goes to the consultation with the adult epileptologist,
00:18sometimes you have to start all over again.
00:21So, take into account all the symptoms, the signs of the pathology
00:25and try to give a name to this pathology.
00:28It is easier, in general, in the epilepsies that occur in the field of rare diseases at a very early age,
00:35because we already know more or less where to go.
00:38And, in recent years, our help has come to genetics.
00:42So, with the possibility of using genetic tests that have really had an explosion in recent years,
00:48we have been able to give a name that does not mean giving a cure,
00:52but to the good part of the pathologies we have to deal with.
00:56There is what is called a lost generation,
00:59that is, in adult patients there is, for example, a cognitive delay, neurological disorders,
01:04disorders that can be multi-organ,
01:06so other organs outside the central nervous system are also of interest,
01:10in which we still do not have names.
01:12And we try to give a therapy that, however, cures the symptoms, but not the pathology itself.
01:17This means, however, in conclusion,
01:19that the work between the medical specialist of the pediatric age and that of the adult age
01:24must be absolutely joint.
01:27If we do not work together, we will never be able to help in the correct way
01:31both pediatric patients and adults.
01:33Unfortunately, in Italy there are still the Travels of Hope.
01:36The large centers that deal with rare diseases
01:39are located mainly in the north, in central Italy.
01:42This means, for example, that people who come from southern Italy
01:45still have to embark on the so-called Travels of Hope,
01:48which, from a social and economic point of view,
01:51results in an aggravation, not only economic, but also laborious,
01:55for the caregivers, who are often the parents,
01:57who often have to leave work.
02:00Health care and the possibility of access to adequate care,
02:04however, is not the same at the regional level.
02:07We often attend whole families
02:10who move their residence to regional territories,
02:13where the assistance is better,
02:15precisely to be able to give their children
02:18the most adequate care.
02:21Our national health care system is divided regionally,
02:24which means, of course, that not all therapies
02:27are available in all regions.
02:30In addition, as we know, the first definition of a rare disease
02:33is made in the centers that prescribe rare diseases.
02:36So already the patient or the caregiver or the family
02:39must identify this center to have a first prescription
02:42and, consequently, when they exist,
02:45the exemptions for this type of pathology.
02:47It is clear that unifying this assistance
02:50would be ideal for these patients.
02:52If there were therapeutic diagnostic paths
02:55that were then applied in the different regions,
02:58this, of course, would represent the best assistance for these families.
03:03But our work as doctors must also begin,
03:06because if we fail to have a precise and punctual clinical description
03:10of each syndrome,
03:12we will not be able to help our patients correctly again.