- Phone: +39 338 451 7154
- Email: ilsorrisonegliocchidirichi@gmail.com
When Riccardo was born, everything seemed fine, "normal" as they are used to say. A sweet and pleasant child, full of vitality, a marvel. I remember that at the age of one he could walk and say his first words.
Up until about the age of 3 , Riccardo regularly adhered to all the stages of child development. In the first six years of his life he practiced many sports such as swimming, skiing, horse riding, always showing great enthusiasm in everything he did. He liked meeting other children and sharing games with them but he also seemed to love playing alone. It was fun to hear him say some words in English, especially when the same words in Italian were more difficult to pronounce.
However, when he was about 3 years old, I realized that his language was not progressing and that he expressed himself using the "word sentence", meaning that he did not articulate a complete sentence and was hyperactive. The ‘mother instinct’ led me to want to clearly understand so I immediately turned to a child neuropsychiatrist. Tests began: neurological, metabolic, genetic. The first MRI in 2009, at a relatively advanced age (that is, 5), revealed a hypoplasia of the corpus callosum, whose associated symptoms can range from mild to severe and can include delayed motor development, learning difficulties and problems coordinating movements. Riccardo could get the gist of ‘things’, but he did not know how to organize information and there was a big gap between his inputs and outputs.
So, he started with a course of physiotherapy and speech therapy treatments.
We continued the rehabilitation treatments and follow-ups every 3 months with multidisciplinary assessments (neuropsychiatrist, therapists, support teachers, school assistant), until in October 2013, the neuropsychiatrist recommended repeating the MRI, noting poor results obtained despite the rehabilitation process, but rather a regression.
The diagnosis was devastating: supratentorial atrophy and delayed myelination.
At the age of 9, when he was still able to walk, to speak, even if not like us, the medical voices around him said: "There is nothing to be done. It’s better to you give up".
At this point in time, I understood that I could not possibly leave Riccardo alone. He needed mediation and protection, because I was not sure that he could tell me what he was feeling or what was happening to him, or if I would be able understand what he meant, what he was really designating.
In 2014, various genetic tests began but did not bring any concrete results other than the exclusion of some diseases.
During that time, as any mother would, I tried to look for possible ways to help him: I examined all the possible treatment, I kept looking for information in specialist articles, in medical studies, anything that could provide some beneficial clue, as the doctors had given up declaring that there was nothing more to be done.
I felt lost in the labyrinth of doctors and scientists, with no one to ask for help.
In 2016 I came across the Fondazione Telethon website which had just published the Telethon Program “Diseases without Diagnosis - MSD” aimed at all those patients whose disease did not have a name.
In 2019 the MSD Program found the genetic mutation: UBTF: c.628G>A, p.Glu210Lys in exon 7 variant “de novo”.
The genetic mutation had already been found in 2015. The study on this was published in 2017.
Riccardo is suffering from a deceptive and cruel disease, which creeps in silently... fewer words, which disappear one after the other, less balance, less motor skills, less cognitive skills.
This is the reason why I founded the association Il sorriso negli occhi di Richi, because I would like to continue to see that smile.
Up to the present, there are about 43 boys and girls diagnosed worldwide, including 5 in Italy. If you are one of them, we have a FB group you can join.
The sustainability of our activity depends on the contribution of each donor who allows us to finance research and to give continuity to our commitment to children affected by rare diseases.
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