26 January 2023. Mario is not 2 years old yet, but he already has a heavy burden on his little shoulders: a diagnosis of an extremely rare genetic disease, the CHOPS syndrome, only 13 cases described in medical literature. Manuela, his mum, leaves little room for bitterness; together with her husband Gianni, Mario’s dad, she decided to turn their pain into a path of light, faith and research. She reads up tirelessly and she finds the international group of families sharing the same heavy burden (https://www.chopssyndromeglobal.org). She tries to get in touch with them, but initially unsuccessfully. A few days later, Mario accidentally starts a video call by touching the phone with his curious little hands. It’s the right one: Manuela and Lainey Moseley from Philadelphia are finally in touch. They chat, they confide. Lainey is Leta’s mum, who is 25 years old, the first patient in the world to get the diagnosis of CHOPS in the very recent 2012 (https://savingleta.com).
Thanks to Lainey, Manuela can talk to the other families and to Dr. Krantz and the team of doctors who discovered CHOPS syndrome, too. She asks immediately if there is a hope for a cure. The answer is: “YES, there is.” Manuela and Gianni cannot but cling to this hope with all their energies, believing in science and progress. They create an Instagram page for Mario (supermario_story) in order to talk about CHOPS, they start a fundraising (https://gofund.me/10258f8d) and, they cannot believe their eyes, they are overwhelmed by an incredible solidarity wave that pushes them to go ahead. Meanwhile, Manuela is looking for other people who share Mario’s diagnosis. She comes across an old comment on a post of a rare disease group: Reina tells about the unknown disease of her daughter, Luce: the CHOPS syndrome! Manuela and Reina virtually meet, they talk about their children at length.
Luce is 16 years old and her story, like Mario’s one, is a story of pain, in her case also of a very long waiting for a diagnosis,which arrived when Luce was 10 years old, after a journey to the Texas Children Hospital. Reina and Luca, Luce’s dad, do not feel alone anymore. They join Manuela’s and Gianni’s efforts. Here comes the idea of establishing a Foundation.
Their main goal is clear: they want to fund the scientific research for a cure against the CHOPS syndrome. It is 13th May 2023, less than two months since the beginning of the fundraising: Luce and Mario, their mums and dads meet in person in Pistoia, Italy: Fondazione CHOPS Malattie Rare was born, the first foundation dedicated to the CHOPS syndrome.