“Riccardo is the sun.” So the teachers described it in elementary school. Today Riccardo is 17 years old, and that bright tract has never lost it. He loves to be among the others, he is happy when he sees the bus arrives that accompanies him to the artistic high school and smiles when he recognizes the road that takes him to the pool, one of his places of the heart. He loves water, loves music – from the lyric to summer catchphrases – and dances on his notes to improve balance, compromised due to Pitt Hopkins syndromea rare genetic disease caused by a mutation of chromosome 18.
The diagnosis has reached four years, at the end of a long journey made of specialist visits and doubts. Since the first days of life, the parents had noticed an unusual tranquility, but they had not been alarmed until one night, when Riccardo had just a month, had become cyanotic and had started to beat. Only with the cold blood of the mother and a few hits on the back had he returned to breathe. From that moment on, gastrointestinal problems began and, thanks to the intuition of a doctor affected by its somatic traits, it has come to the diagnosis.
“Knowing the name of my son’s disease was a relief,” says Romina, the mother. “It allowed me to accept his condition. Before, not finding answers in science, I had even sought alternative care ». After the diagnosis, Romina began to document himself and recognized in the symptoms described on the net those lived by Riccardo. He then sought other families with whom to share experience and overcome loneliness. The Italian Association of Pitt Hopkins syndrome still did not exist.
Today that association is there, and it is she who participates in the announcement Fall Seed Grant 2024 promoted by the Telethon Foundation. The goal is to stimulate and finance scientific research on this rare syndrome, which involves severe intellectual disability, language compromise and motor delay.
“Pitt Hopkins’s syndrome is a very serious disease,” explains Romina. «But finding other families has taught us that Riccardo can also be happy with his difficulties. And we, with him ».
A cure does not yet exist, but research can improve the quality of life. “Even just a drug that allies its severe abdominal pain would change everyday life, not only for him, but for the whole family”.
Riccardo has a sister, Matilde, 11 years old, who is next to him with sweetness and attention. It is for him, but also for her, that Romina continues to fight.
“The diagnosis of a rare genetic disease puts a whole family upside down, not just those who live it. That’s why it is important to talk about it, make these diseases known and invest in research ».
Thanks to the Telethon Foundation and the courage of parents like Romina, Riccardo’s “sun” continues to shine, in the hope that one day he can also illuminate the way for a cure.
Also this year, on the occasion of Mother’s Day, Telethon Foundation launches the spring campaign “I for her”an initiative created to celebrate and support “rare mothers”, those courageous women who face the challenges related to the genetic diseases of their children every day. Women who have always been at the center of the Foundation’s mission, born thirty years ago from the appeal of a group of mothers of the Italian Union fight against muscle dystrophy (Uildm).
On 3 and 4 May throughout Italy, over 2,500 collection points will be active where, in the face of a minimum donation of 15 euros, it will be possible to receive the biscuit hearts, a symbol of the campaign. The volunteers of Telethon and numerous partner realities will distribute them: Uildm, Avis, Anffas, UNPLI, Italian Catholic Action and the newsagents belonging to the SI.NA.Gi – the national teams of Italy.
“Also this year, with the spring campaign” I for her “, Fondazione Telethon celebrates the strength of the” rare mothers “, who with great determination take care of children born with rare genetic diseases every day”, comments Ilaria Villa, general director of the Foundation. “The quality of life of these children is very often compromised by the disease and, precisely for this reason, Telethon Foundation works with as much determination to give strength to research and offer concrete answers in terms of timely diagnosis, support for the quality of life and effective therapies”.
The biscuit hearts, ideal to give for Mother’s Day, are shortcrust pastry biscuits in three tasty variants: with chocolate chips, with oranges of Sicily, and cocoa and chocolate chips. Each tin box – collectible and available in three metallic colors – represents a special moment of the day: The smile of the Aurora For the cream -colored package, The poetry of sunset For that purple, The embrace of the evening For the blue one. A way to tell the daily commitment, constant and silent, of those who take care and those who make research.
Each pack contains three trays from six biscuits, for a total of 18 sweets and 300 grams of goodness, packaged to keep the fragrance intact. Inside, also a postcard with a bookmark to be detached and a QR code that reveals a digital surprise. Everything is enclosed in a coordinated shopper.
From April 28 to May 4, the campaign will also be accompanied by a week of awareness on the three Rai networks, thanks to the support of Rai for sustainability – Esg, to give visibility and concreteness to the work of Telethon researchers and feed the hope of families waiting for diagnosis, therapies and responses.
The collection points can be consulted on the website www.fondazionetelethon.it, where it is also possible to order the biscuit hearts through the solidarity shop. For those wishing to contribute actively to the distribution, simply contact the number 06 440151 (key 2) or write to [email protected].
A small gesture that can make a big difference. Because behind every biscuit, there is a story. Behind every story, there is a mother. And behind every rare mom, there is an Italy that does not give up.
