A german newspaper (RTL) talks about MECP2 duplication syndrome

Matteo, a carrier of the MECP2 duplication syndrome, and his family speak about their journey towards the diagnosis in a German newspaper (RTL).

Find the translation of the article here. Translated from German by Caroline Covini.

The right diagnosis took forever.

« WE ALMOST LOST MATTEO THREE TIMES » : MATTEO (4 YEARS OLD) HAS A RARE GENETIC DISEASE

Written by Julia Jaegler on 1st of June 2022.

Little Matteo from Vienna is only four years old, but he has already seen many hospitals and doctors. « He just contracted all these different infections and, we had to take him to the hospital every two weeks », says David C. to RTL. “In the first two years of his life, we almost lost Matteo three times ». Already at that time, he and his wife Caroline realized that something was wrong with their child. But what?

« We lost so much time before we could finally get the diagnosis, it was horrible. »

When Matteo was born in May 2018, everything seemed fine. But his parents, both scientists, and chemists in the pharmaceutical industry, were quickly suspicious. « He’s just a little late » say the doctors as Matteo wouldn’t walk until he was 28 months old. David and Caroline C. are not satisfied with this and try to understand for themselves what was wrong with their son. It was a long and difficult road from doctor to doctor: « We lost so much time before we finally got a diagnosis, it was terrible », explains her father to describe this period of uncertainty.

« Matteo doesn’t understand and doesn’t feel everything. He can only say a few words. »

But the diagnosis was also terrible: in August 2021, three and a half years after Matteo’s birth, the verdict fell: the little boy, now four years old, was diagnosed with a rare genetic defect called MECP2 duplication syndrome (MDS). « There are only about 200 known cases of this disease in the world, which makes it even more difficult because there is hardly any money for research on such rare diseases, » says Matteo’s father. A brain protein, which controls other proteins, is doubled in Matteo. This has an impact on his intellectual and physical development, explains his mother Caroline about her son’s genetic defect: « Matteo doesn’t understand and doesn’t feel everything. He can only say a few words. »

The parents lived a real odyssey

But the worst thing for the parents, who live in Vienna, is the prognosis for their son’s future: 50 percent of those affected have epileptic seizures between the ages of seven and nine – after that, the abilities they have acquired, such as walking, often decline rapidly. Only half of the affected children pass their 25th birthday.

« As scientists, we pretty much understand what doctors tell us. But how do the other parents feel when they hear all these complicated technical terms without explanation? ». The parents, both scientists in leading positions, are familiar with the medical field. However, it has been an endless struggle for them – from doctor to doctor, facing perplexity and indifference.

Obtaining childcare is challenging

On Instagram, the family is trying, via the account @matteo_mds, to bring attention to this rare disease and also to find other families affected to share and support each other.

Matteo got one of the few places in kindergarten for disabled children in Vienna. He can stand, walk, laugh and say a few words. He does not have epileptic seizures. And his parents hope that it will last as long as possible.