Un giornale tedesco (RTL) parla della Sindrome da Duplicazione di MECP2

Matteo, a carrier of MECP2 Duplication Sindrome, and his family spoke to a Tedesco newspaper (RTL) about the path they had to take to arrive at the diagnosis.

Trova la traduzione dell'articolo qui. Traduzione dal tedesco di Marco & Rita.

It took a long time to reach the correct diagnosis.

"Nei primi due anni di vita, abbiamo quasi perso Matteo per tre volte".

Scritto da Julia Jaegler il 1mo Giugno 2022

Il piccolo Matteo di Vienna ha solo 4 anni, ma ha gia' conosciuto molti dottori ed ospedali. "He often suffered from infections and we had to take him to hospital every two weeks", David C. told RTL. "In the first two years of his life, we almost lost Matteo for three times". Gia' in quei momenti, David e sua moglie Caroline capirono che c'era qualcosa che non andava con loro figlio. But what?

"Abbiamo perso cosi' tanto tempo prima di arrivare a una diagnosi, e' stato orribile"

Quando Matteo e' nato, nel maggio del 2018, tutto sembrava andasse per il meglio. Ma i genitori, entrambi scienziati e chimici impiegati nell'industria farmaceutica, iniziarono presto a sospettare qualcosa. "E' solo un po' in ritardo" dicevano i dottori anche se Matteo non ha iniziato a camminare fino quando ha avuto 28 mesi. David and Caroline C. were not disillusioned by the information they received and tried to find out for themselves what the problem was. E' stata un'impresa molto lunga e difficile di dottore in dottore: "Abbiamo perso cosi' tanto tempo prima di ottenere finalmente la diagnosi, e' stato terribile" dice il padre quando reconta di questo lungo periodo di incertezza.

"Matteo non capisce, ne' sente tutto. Riesce a dire solo alcune parole".

But the diagnosis was terrible: in August 2021, 3 years and a half after his birth, the verdict was in: the tiny toddler, now 4 years old, had been diagnosed with a rare genetic disease known as MECP2 Duplication Disorder (MDS). "There are only 200 known cases of this disease in the world. This makes things even more complicated, because it's difficult to find funding for research into such a rare disease", says Matteo's father. A brain protein, which controls other proteins, is present in Matteo in double quantity. This has an impact on his intellectual and motor development, says his mother Caroline: "Matteo doesn't understand, he doesn't feel everything. Riesce a dire solo alcune parole".

I genitori hanno vissuto una vera odissea

But the most important thing for Matteo's parents, who live in Vienna, is the future of their son: 50% of children affected by this disease have epilepsy between the ages of 7 and 9, after which the abilities they have acquired, such as walking, decline rapidly. Only about half of children with the disease reach the age of 25.

"Come scienziati, riusciamo a capire quasi tutto quello che i dottori ci dicono. But how will other parents feel when faced with these complicated terms that are presented without any explanation? The parents, all scientists with responsibilities in the farmaceutical industry, are familiar with the medical field. Despite this, for them it was a constant struggle to move from one doctor to the next, and they had to face up to their perplexity and indifference.

Ottenere assistenza e' difficile

Su Instagram, la famiglia sta cercando, attraverso l'account @matteo_mds, di portare questa rara malattia genetica all'attenzione generale e di trovare altre famiglie che stanno affrontando le stesse difficolta' per condividere e sostenersi a vicenda.

Matteo has one of the few places for disabled children in Vienna. He can walk, walk, walk and say a few words. She has no epilepsy. Her parents hope that her condition will continue for as long as possible.