Storie Italiane and the special for Telethon: the stories of children suffering from rare genetic diseases

Italian stories dedicates an important page of the program a Telethon and looking. During the program Eleonora Daniele tells the story of some children suffering from rare genetic diseases. With them in the studio their mothers talking about the management of their children’s diseases.

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In the studio intervenes the mother of Lara, 9 years old, suffering from Poic Syndrome which explains how the diagnosis was made: «Making the diagnosis of this pathology is not easy, the first episode that made us suspect something serious was at 3 months when his abdomen swelled a lot and he had bilious vomiting. We made 40 hospitalizations, some even for 6 months. A process that concerns rare complex chronic diseases “. Then he tells what it means to be a parent of a child like Lara: «Like all complex diseases, you face walls that you have to overcome every time, walls that separate families. Apparently Lara does not seem ill but hers is a complex pathology, the lack of understanding of the community weighs on us and for this we have set up an association that has allowed us to get in touch with Telethon in the hope of finding an improvement in management ».

Normal function of the digestive system is impaired, so every 3 hours family members have to do procedures to help patients. For this reason, families need help in managing their loved ones and Lara herself intervenes in this regard and says of her mother: «She is a good mother who does her best to make her daughters feel good and help them. Sometimes he scolds me though ».

During the program, Eleonora also tells the story of Nathanael, a 4-year-old boy suffering from Digeorge Syndrome, also called heart face because it creates heart problems and facial malformation. In the office, the mother tells the story of her child: «Not everyone is affected in the same way, in adolescence they can develop neurological and psychiatric problems. If you find out in time you can work well otherwise it is more difficult. To us in bad luck we went well. Nathanael was operated on for three months on his heart and in theory we have solved it, he has language problems but we are trying to solve them. We are part of an association and we also support each other between parents and it is they who often guide us in managing our child’s disease ».

Then the story of Amber, a 7 year old girl, suffering from Dravet Syndrome. The mother in the study explains: «It is a disease that has a broad spectrum of symptoms and severity. Ambra has many symptoms: she does not speak, she has a medium-severe delay and has severe epileptic seizures which are often the cause of great physical trauma precisely because they occur suddenly ». In the studio Ambra runs out of nowhere to embrace one of the guests and her mother explains: «Yes, that’s how she is, she’s a giver of affection. These children need physical contact a lot, in fact our association is called Kisses and Hugs. But she is really strong and gives us the strength to go forward ».

Then comes to the studio Maddalena, a 7-year-old girl born in China, suffering from Kabuki Syndrome. The mother in the studio remembers when they went to the orphanage to pick her up at the age of 2: «When we went to meet her we didn’t know she had such serious problems. We knew she had problems with her palate and we took her to a center, but the doctors told us that there was probably more and they advised us to do more in-depth examinations, so the diagnosis arrived “, continues donates: «Magdalene’s disease is a rare genetic syndrome associated with cognitive retardation, facial malformations reminiscent of the masks of Japanese theater and this in your case was difficult to grasp because you have Oriental-like features. He also has cardiological, bone, palate and immunological problems ».

Last updated: Friday 17 December 2021, 12:14


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Storie Italiane and the special for Telethon: the stories of children suffering from rare genetic diseases

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