MECP2 gene duplication syndrome featured in an Austrian newspaper (Kronen Zeitung)

Matteo, who has MECP2 gene duplication syndrome, appeared in the Kronen Zeitung, an Austrian newspaper (Anja Richter).

You can find the translation here (Translated from German by Karyn Lebescont)

A 4-YEAR-OLD BOY WITH A GENETIC DISORDER

"We’re worried about what the future holds for our child"

An article by Anja Richter for the Kronen Zeitung. 30 May 2022

For three and a half years, Matteo’s parents went round in circles. It was only at the end of that period that they received the devastating diagnosis. This couple, both committed chemists, want to spare other families such an ordeal.

When Matteo was born in May 2018, the doctors assured his parents that everything was fine with the little boy. Even when numerous infections led to him being admitted to hospital during his first year of life, his parents were told not to worry. And even when the boy didn’t start walking until he was 28 months old, they were told: ‘He’s just a bit behind.’ Yet David and Caroline C. had long felt that something was wrong with their son. But what?

Only two cases of this disease have been recorded in Austria

What followed was an arduous journey involving visits to dozens of doctors. In August 2021, three and a half years after Matteo’s birth, his parents received the devastating diagnosis from the Institute of Genetics at MedUni Vienna. The four-year-old boy is one of only two children in Austria to suffer from the rare genetic disorder MECP2. Worldwide, only 215 cases of this condition – which is similar to Rett syndrome but mainly affects boys – have been recorded.

Matteo can say a few words and walk. But will it stay that way?

“Matteo has twice the normal amount of a brain protein that controls other proteins. This affects both his intellectual and physical development,” explains his mum, Caroline, during a meeting with *Die Krone* in a Viennese park. “He doesn’t understand or feel everything, and he can only say a few words,” she explains.

“But the most frightening thing is the prognosis for our child’s future. Because 50 per cent of the children affected have epileptic seizures by the time they reach primary school age and only gradually regain the abilities they had previously acquired,” explains the chemist, who is originally from Paris. Only half of those affected are still alive by their 25th birthday.

A family left to cope with the diagnosis on their own

“We don’t even want to think about it,” says Matteo’s dad, who is also a chemist and holds a senior position in Vienna. What worries this man in his forties is the way families are confronted with such devastating diagnoses: “As scientists, we more or less understand what the doctors are telling us. But how must other parents feel when all these complicated technical terms are thrown at them without any explanation?”

Parents are trying to take action to improve the system

The parents, who now have a strong international network, are campaigning to improve the system. Not just for their son, but for all the families affected: “Parents need better support, such as psychological counselling. But also help with everything to do with rehabilitation, day care facilities and many other things besides.”

Matteo has secured one of the few places at a nursery for children with disabilities in Vienna and attends the Karl Schubert School in Liesing. “There are 40 children on the waiting list. Here too, urgent action is needed,” the couple are also campaigning to ensure that parents of children with disabilities are not forced to give up their jobs due to a lack of childcare places, thereby falling into a cycle of poverty.

The bond with her six-year-old sister is very evident

The way the C. family manages their lives is admirable! And this is best reflected in the happy eyes of their son, who, during the interview with *Krone*, repeatedly points to his toy, smiling and saying ‘boat’. You can also clearly sense the bond he shares with his six-year-old sister, Nyssa. Caroline, their mum, smiles when she talks about them: “Nyssa is incredibly affectionate towards Matteo and looks out for him. We feel that she sometimes understands better than we do what he needs at any given moment.”

MECP2 research project

Would you like to find out more about Matteo or support research into his rare genetic condition? Please contact his parents via:

Matteo’s Instagram account: matteo_mds By email: matteo_mds@gmx.net

To support activities with the children at Matteo’s school: Karl Schubert School Association (IBAN: AT83 1100 0006 6197 9500, BIC: BKAUATWW)