Duplication of the MECP2 gene appears in a German newspaper (RTL)

Matteo, a carrier of the MECP2 gene duplication, and his family tell a German newspaper (RTL) about their road to diagnosis.

Read the full article here. Translated from the German by Karyn Lebescont.

The right diagnosis took forever 

 "WE NEARLY LOST HIM THREE TIMES": MATTEO (4) HAS A RARE GENETIC DEFECT 

Written by Julia Jaegler on 01 June 2022 

Little Matteo from Vienna is only four years old, but he has already seen a lot of hospitals and doctors. "He simply contracted lots of infections and we had to take him to hospital every fortnight", his father David C. tells RTL. "In the first two years of his life, we nearly lost Matteo three times". Even then, he and his wife Caroline realised that something was wrong with their child. But what was it? 

"We lost so much time before finally getting a diagnosis, it was terrible. 

When Matteo was born in May 2018, at first sight everything seemed fine. But his parents, both scientists and chemists in the medical field, soon had their doubts. "He's just a little late", said the doctors, even though Matteo wouldn't walk until he was 28 months old. David and Caroline C. weren't content with that and tried to find out for themselves what was wrong with their son. It was an obstacle course from doctor to doctor that lasted for years: "We lost so much time before finally getting a diagnosis, it was terrible", explains his father, describing this period of uncertainty. 

"Matteo doesn't understand or 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 came down: the little boy, now aged four, suffers from a rare genetic defect called MECP2 duplication syndrome (MDS). "There are only around 200 known cases of this disease in the world, which makes things all the more difficult because there is hardly any money for research into such rare diseases", says Matteo's father. Matteo has a duplicate of a brain protein that controls other proteins. This affects both his mental and physical development, explains his mum Caroline about her son's genetic defect: "Matteo doesn't understand or feel everything. He can only say a few words". 

It's been a real odyssey for the parents 

But the worst thing for the parents, who live in Vienna, is the prognosis for the future: 50 per cent of those affected have epileptic seizures between the ages of seven and nine, after which their acquired abilities, such as walking, often decline rapidly. Only half of those affected live to see their 25th birthday. 

"As scientists, we pretty much understand what doctors tell us. But how do other people feel when they hear all these complicated technical terms without explanations?" The parents, both scientists in positions of responsibility, know a lot about the medical field. However, it has been an obstacle course for them - from doctor to doctor, encountering perplexity and disinterest. 

Difficult to get childcare 

On Instagram, under the account @matteo_mds, the family is trying to draw attention to this rare disease and also to find other parents concerned so that they can share and support each other. 

Matteo has been awarded one of the few nursery places for disabled children in Vienna. He can still stand up, walk, laugh and talk a little. He has no epileptic seizures. And his parents hope that it will stay that way for a long time to come.