FRANCESCO

Hi, my name is Francesco.  I was born on November 23, 2013 and I live in Rome, Italy. When I was born, my mom and dad were very happy about it, but after some time the worries began. I always had trouble with food, my weight was always on the edge of the threshold and, with time, even my gaze started to worry my parents. By the time I reached 4 months, I had not reached any stage, neither cognitive nor physical.    The doctor diagnosed me with only a psychomotor delay but from that moment my calvary began:   visits, analysis, magnetic resonances, and electroencephalograms.  Through  genetic analysis, they ultimately discovered microdeletion syndrome: 16. p. 13.11. We hoped it was the cause, but for the geneticist this deletion wasn't the diagnosis.  Later in fact, the same microdeletion was found in my dad as well. 

Growing up I never achieved a satisfactory goal.   I never sat on my own.  I don't chew (a disorder called dysphagia); I am unable to manage neither liquid nor solid so, to avoid choking, food is boiled or reduced to water instead, to get thinned. I still don’t walk.  I have visual problems.  I suffer from movement disorder, which does not allow me to coordinate my movements.   So trying to do anything is difficult, even to take a simple object. I suffer from gastroesophageal reflux so, along with the dysphagia, eating is a real ordeal.  But my mom insists on making me eat by mouth even though every meal means taking a lot of time and patience.  She's going to keep it up, to avoid me getting a PEG in my tummy, a tube that allows food without going through the mouth but directly into the stomach. I don’t talk, but when I want to be heard, I scream, I complain. In other words I try to communicate, even if for now only my mom understands me – and not always! I'm hypotonic, a muscle weakness that often doesn't let me even hold my head up straight. 

Continuing my story back in 2016, we finally managed to access funds for research for rare diseases and my parents were able to get the exam study to see if we could find the cause of all my symptoms. In 2018, the diagnosis was found: I am suffering from a very rare disease which does not have a name yet. The gene that does not work is called GABRB2—a diagnosis without a cure, with no one who can understand what I can or cannot do, life expectations, a disease that no one knows. It was a cold shower for my parents who, however, never stopped hoping, getting me therapies, checks, stimulating my curiosity, fighting every day to give me, as much as as possible, my autonomy. It’s with this tenacity, searching, asking even on the web, that we found a site dedicated to the research of rare diseases, which brought us to meet an Italian sister of Gene, who in turn brought us into this group, where other children have the same symptoms as me and others unfortunately even more serious.  But we have one thing in common besides the GABRB2 mutation, we are all beautiful! 

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Help us find a cure for Francesco at https://give.rarevillage.org/campaign/cure-gabrb2/c349410