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New year and new life for Miriam, thanks to cystic fibrosis research

Miriam is a beautiful 21 year old girl. She lives in Genoa, where she is enrolled in the second year of Medicine, she is passionate about sport and follows the Moto Gp, a passion inherited from her father, founder of the official Max Biaggi Fan Club (while she is a fan of Marc Màrquez).
In short, a brilliant young life like many others, if it weren’t for the fact that Miriam has lived with the cystic fibrosiswith long months, indeed years, spent in a continuous coming and going from the hospital.

Yet he smiles as he tells his story: «I remember the therapies in the ward with tenderness, like a moment of pampering from my parents». We ask her what cystic fibrosis is and she replies with extreme simplicity: «It is about a condition that causes secretions to build up and thicken throughout the body, especially in the intestines and lungswhere the main problems are concentrated.

Between 2018 and 2022 Miriam spends three quarters of her time hospitalized, and the treatments debilitate her a lot. “The disease has taken a lot from me, starting with the light-heartedness and lightness with which to face everyday life,” she explains. «I gave up on trips, sports, travel. I made so many sacrifices to heal myself, and sometimes it seemed almost useless, because the cystic fibrosis progressed. I have come to dedicate 5 hours of my day to therapies: 8 aerosols a day, 30 minutes at a time of respiratory physiotherapy, 40 pills and 3 insulin shots a day. And this when I was not in hospital ». But Miriam never gave up: anticipating what was then distance learning, she has been studying following lessons on Skype since the third high school, and she has also enrolled in university. Today she is attending the second year of medicine in her city, Genoa, and she says that her dream now “is to give back as much as I was given”.

This year Miriam was one of the testimonials of Rai marathon of Telethon pWhy exactly the Research, and in particular the studies conducted at the Telethon Institute of Genetics and Medicine (Tigem) in Naples by Luis Galietta, associate professor of Medical Genetics at the University of Naples Frederick II, they turned his life around.

“Arriving a cure for cystic fibrosis is not easy, because gene therapy cannot be used for this pathology, i.e. one that replaces a healthy gene for a diseased gene, but we must try to work there protein mutata, the synthesis of which is encoded by CFTR gene (also mutated and origin of the pathology), using instead drugs opportune», explains Galietta. «The good news is that currently most patients have a protein that can be corrected by drugs, therefore today we are well advanced with the treatments for cystic fibrosis. Drugs can be correctors or enhancers or some combination thereof.

In Miriam’s case, two correctors and one enhancer were used. “Because Miriam’s DNA gave an in vitro response and had the right parameters, the patient entered the current trials of research», specifies the expert. «The less good news, however, is that approx 30% of those with cystic fibrosis have developed mutations that cannot be cured by currently known drugs. Reason why the research is working on a study that restores the correct and complete synthesis of the protein and on a second study that identifies an alternative target to break the cycle of inflammation – infection in the lungs, which are the main cause of transplants in sufferers of cystic fibrosis”.

Galietta concludes with a certainty that leaves hope: «The research is advancing quickly, and we are working to be able to give answers as soon as possible; on the other hand, roads opened only for twenty years ago would not have even been imaginable». Not for nothing, the same messenger RNA technology used for the anti-covid vaccine has paved the way to cure many other diseases.

“Research is life,” he commented Ariadne Ciampolitelevision face of the Telethon Rai Marathon. «In twenty years I have seen the sensitivity towards rare genetic diseases grow, and even in difficult years, such as 2008 with the economic crisis, or 2020 with the lockdown, when we believed we would not be able to achieve the objectives, people are be generous, indeed perhaps even more». He adds: «research is important because even before finding a cure and therapy for diseases, allowing children to grow (it is no coincidence that the campaign presented in the 2022 edition is called let’s make them big), helps us to orient ourselves in the dark of not knowing and of making exact diagnoses by giving a name to pathologies for which a place could not be found».

Miriam, meanwhile, he started the new therapy last november and today he is happy: «My future has always been uncertain, fragile, hanging by a thread increasingly worn out by the storms of life. Now it’s concrete. He is free from sickness, cough, physical pain, fear. I started swimming again. I laugh without coughing. For the next few years of my new life, I don’t picture myself in any way except in a white coat. I have so much to give to this world, to which I owe my life. I dream of an ending like mine for every patient with cystic fibrosis.”
And he concludes with a phrase by Kahlil Gibran: «To arrive at dawn, there is no other way than the night». A hope for this new 2023.

All info on Telethon.it.

Other Vanity Fair stories you may be interested in:

Cystic fibrosis, symptoms, diagnosis and treatment

Cystic fibrosis, Francesca: “I’ll tell you about the invisible disease”

Marco, who thanks to two lungs lives a second life with cystic fibrosis

“One meter from you”: a love story to learn about cystic fibrosis

Who was Claire Wineland, the YouTuber chronicling life with cystic fibrosis

Source: Vanity Fair

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