Just Foundation | Donation to the project for children’s rare disease

These days, the social and health care project “Tomorrow in my dreams”, born of the collaboration between the Just Italia Foundation of Grezzana and the Federation of Rare Infant Diseases of Turin, has started.

The project is made possible by the donation of 300 thousand euros from the Just Foundation to the Turin Federation, which will take care of 80 children suffering from rare diseases, starting from a sophisticated genetic study (Ngs – Next Generation Sequencing). This will make it possible to quickly arrive at the diagnosis and definition of the appropriate therapeutic route that will last 2 years.

“These DNA studies – as the President of the Federation of Rare Infantile Diseases Roberto Lala recalled – are expensive, are not currently covered by the national health service and are therefore difficult to access for most families. Thanks to the donation from the Just Italia Foundation, 80 children suffering from rare diseases without an accurate diagnosis will be cared for by an interdisciplinary team from the Regina Margherita Children’s Hospital in Turin, who will accompany them with their families for two years, concretely returning life expectancy and the future ”.

(Roberto Lala)

The project began with the creation of a specific interdisciplinary team consisting of pediatricians, a geneticist, a dietitian, a career counselor, a psychologist, a child neuropsychiatrist, a bioethicist and a clinical data controller, each with specific support functions and assistance. for both small patients and parents.
The first child already selected is afflicted with leukoencephalopathy (brain disease occurring in childhood or adolescence, characterized by weakness and lesions located in the white matter of the brain, especially in the cerebral hemisphere), and has been analyzed together with the parents. Other children followed with epilepsy of genetic origin, with a complex malformation picture and with global developmental delay associated with a genetic syndrome.
“It’s important to remember,” he added. Lala – that each child has a different pathology and its own history, that diseases can not be confronted in the same way, that pathologies develop over time and may require changes in the therapeutic path. However, it is important that the upstream diagnosis is fast, correct, accurate, and that is the point we started from ».

Taking responsibility for the little ones involves all the components of the interdisciplinary team to facilitate the entrance of children and their families to the pediatrics of Regina Margherita in Turin. The first meeting is with the course consultant, who has the delicate task of illustrating the process of doctor visits and examinations aimed at obtaining the complete clinical picture, in order to set up the personal therapeutic plan. We continue with the pediatrician and the geneticist, who performs the genetic examination with a blood sample taken. The biological material is then sent to the analysis laboratory, which sends the report within 60 days. This will allow the second meeting with the parents, who will be shown the final diagnosis and the therapeutic plan for their child. According to the individual patient’s clinical situation, meetings are then planned with the psychologist, dietitian, bioethicist with a global approach that reassures children and parents and strengthens the perception of care, affection and attention.
The role of the clinical data controller is also fundamental, responsible for collecting individual data, provided by genetic analyzes, and comparing them with international data found on big data systems. Equally relevant are the planned online meetings between pediatricians and parents, favored by a specific web platform, and the numerous initiatives developed by the Federation of Rare Diseases over the course of the therapeutic path, which is long and complex but offers a fundamental improvement in life prospects for small patients.

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