“Ensuring newborn screening for diseases that did not have it before, such as hereditary metabolic diseases, has an undeniable impact on the life of patients: it means being taken care of at the right time, with the certainty of protocols that guarantee the best possible development, a healthy development to the patient”. So Niko Costantino, Head of Public Affairs Cometa Asmme – Association for the study of hereditary metabolic diseases, during the presentation of the report of the AstraRicerche Institute with the ‘best practice’ experiences of two regions – Veneto and Tuscany – illustrated today as part of the second edition of ‘Rare who finds’, an initiative promoted by Takeda Italia under the patronage of the Italian Society of Pediatrics (Sip), the Italian Anderson-Fabry Association (Aiaf), the Italian Gaucher Association (Aig), the Italian Mucopolysaccharidosis Association (Aimps) and precisely Cometa Asmme.
“When a genetic disease does not have newborn screening – Costantino remarks – there is a void in planning one’s life, a randomness of one’s condition, the impossibility of making long-term plans”. “In Fabry’s disease – explains Stefania Tobaldini, AIAF president – the patient survives birth, but with a neonatal diagnosis one would avoid wandering in a useless way: knowing what one has, first of all one grows with awareness and one can plan the checks to be done. If you know the pathology, you don’t suffer it, you become an active patient and can manage it from an emotional point of view. Furthermore, unnecessary visits are avoided and only targeted checks are performed: early diagnosis therefore represents a saving”. “You also have the possibility to start the therapies as soon as the doctor deems it necessary”.
Newborn screening “would lead to an increase in life expectancy, improve the quality of life and change the psychological aspect of the patient – underlines Tobaldini – Furthermore, screening, if positive, allows for family investigations: identifying close relatives, uncles, cousins or other relatives who have difficulty obtaining a diagnosis.”
“The impact of Gaucher’s disease – adds Fernanda Torquati, president of AIG – varies a lot according to the type: type II is a neurological form, with very short life expectancy (even just a few months), with terrible suffering for the child and for the parents. Type I and type III (which is a combination of I and II) can be completely different from case to case: children can be asymptomatic, with a normal life (there are patients who have studied up to university, got married , have children), or have severe forms (perhaps with some cognitive delay, or with heavier forms – up to 100% disability)”. Without diagnosis or “with late diagnosis, life expectancy is reduced, even by decades – warns Torquati – Receiving a diagnosis also allows family screening to intercept other family members, who may be children and can have early monitoring”.
Finally, Flavio Bertoglio president of Aimps: “The impact of Hunter syndrome is dramatic. Personal experience with my son has been devastating for us and for him. Things are now changing, it is possible to diagnose these diseases at birth, think about a bone marrow transplant or use hematopoietic stem cells”. But “without the neonatal diagnosis it is not easy to understand – he admits – it is true that there are typical morphological aspects (thick eyebrows, short neck, shoulders with chicken-winged shoulder blades, etc) but it is very difficult for them to be recognized quickly”. diagnosis “you enter a parallel world. Life changes completely. Stop thinking about tomorrow, take care of today. Neonatal screening for this disease is not yet done at a national level, but if it is done for a child, it can lead to having almost no or almost no symptoms, with normal somatic features and a normal life (if there is no impairment neurological). Associations are important to make patients and families understand that they are not alone and to raise awareness among institutions ”, he concludes.