Matteo with MECP2 duplication syndrome was featured in the Kronen Zeitung, an Austrian newspaper (by Anja Richter).
Find the translation of the article here. Translated from the German by Karyn Lebescont.
A 4 YEAR OLD BOY WITH A GENETIC DEFECT
“The prognosis for the future of our child scares us”
An article by Anja Richter for the Kronen Zeitung. 30.05.2022
For three and a half years of his life, Matteo’s parents struggled to find answers. It was only at the end of this period that the shocking diagnosis was given. This committed couple of chemists would like to spare other families from such an endless journey.
When Matteo was born in May 2018, doctors said everything was fine with the little boy. Even when numerous infections landed him in the hospital during the first year of his life, the parents were told not to worry. And even when the boy didn’t start walking until he was 28 months old, they were told, “It’s just that he’s a little late.” Yet David and Caroline C. had long sensed that something was wrong with their son. But what?
Only two cases of this disorder are registered in Austria
This was the beginning of a journey through dozens of doctors. In August 2021, three and a half years after Matteo’s birth, the parents received the shocking diagnosis from the Institute of Genetics of MedUni Vienna. The four-year-old boy is one of only two Austrian children with the rare genetic defect MECP2. Worldwide, only 215 cases of this disease, similar to Rett syndrome but affecting mainly boys, have been registered.
Matteo can say a few words and walk. But will it stay that way?
“In Matteo a brain protein that controls other proteins is present twice. This has an effect on his intellectual and physical development,” says his mother Caroline during a meeting with the “Krone” in a Viennese park. “He doesn’t understand and feel everything, he can only say a few words”, she says.
“But the scariest part is the prognosis for the future of our child. Because 50 percent of the affected children have epileptic seizures by the time they are old enough to go to elementary school and only gradually regain the abilities they had before,” explains the chemist from Paris. Only half of the people affected are still alive on their 25th birthday.
A family left alone with the diagnosis
“We don’t even want to imagine it,” says Matteo’s father, who is also a chemist and occupies a leading position in Vienna. What worries the 40-year-old is how families are confronted with such terrible diagnoses: “As scientists, we understand more or less what the doctors tell us. But how must other parents feel when all these complicated technical terms come at them without explanation?”
Parents try to act to improve the system
The parents, who have a good international network, are fighting to improve the system. Not only for their son, but for all the families involved: “The parents need better support, for example psychological assistance. But also help with rehabilitation, day care and many other things.”
Matteo got one of the few places at the kindergarten for disabled children in Vienna and attends the Karl Schubert School in Liesing. “There are 40 children on the waiting list. Here too, there is an urgent need for action”, the couple is also committed to ensuring that parents of disabled children are not forced to give up their jobs due to the lack of childcare places and thus fall into a spiral of poverty.
The bond with the six-year-old sister is highly visible
The way the C. family manages their lives is admirable! And it is best expressed in the happy eyes of their son. who repeatedly shows his toy with a smile and says “boat” when he meets the “Krone”. The bond with his six-year-old sister Nyssa is also clearly visible. Caroline, the mother, smiles when she talks about them: “Nyssa is incredibly loving with Matteo and worries about him. We feel that sometimes she understands what he needs at a certain time better than we do.”
Research project on MECP2
Do you want to know more about Matteo or support research on his rare genetic disease? Contact his parents via:
Matteo’s Instagram account: matteo_mds By email: matteo_mds@gmx.net
To support the activities with the children at Matteo’s school: Karl Schubert School Association IBAN : AT83 1100 0006 6197 9500 BIC : BKAUATWW
