Rare disease

Jan (3) has a genetic defect: “Race against time”

In his young life, Jan (3) had to fight hard with many therapies to acquire skills that are very easy for healthy children to learn.

(Bild: Wenzel Markus)

Three-year-old Jan is beaming all over his face at his appointment with the "Krone" - you can hardly tell that he has had to go through a lot in his life. Jan is one of only eight boys in Austria who suffer from the rare genetic defect MECP2 duplication syndrome (MDS). But the young family from Wels is not giving up hope.

A beautiful pregnancy, a completely normal birth - Ana and Borislav Curic from Wels had no idea in 2020 that their little sunshine Jan would not grow up like a "normal" child. The loving parents quickly noticed that something was wrong with their son: "Jan had his first bout of pneumonia when he was just one month old and then illnesses like this became more and more frequent," explains mom Ana.

At 18 months, Jan was diagnosed with MECP2 duplication syndrome (MDS) - an extremely rare genetic defect. Only eight boys in Austria and 300 worldwide suffer from it, which came as a shock to the young family. "At first we didn't even know what this meant for us, and nobody could really tell us. The doctors told us that there was no explanation and that it was just bad luck that we had caught this disease," Ana Curic continues.

Jan (3) enjoys it when his dad reads books to him - he snuggles up to him and seems focused and happy.

(Bild: Wenzel Markus)

Mom Ana also enjoys every minute with her little sunshine.

(Bild: Wenzel Markus)

Everything turned upside down after the diagnosis
After the diagnosis, which turned everything upside down, the parents turned to the internet for information: "I came across Matteo's page on Instagram and saw that we weren't alone." The five-year-old has suffered the same fate as Jan. His parents, researchers David and Caroline C., drew attention to the genetic defect on social media after the diagnosis and also addressed the public in an interview with the "Krone" newspaper. Following this report, another affected family contacted them.

Unfortunately, the disease is progressive, but there is research that could eventually lead to a cure for the genetic defect. We are not giving up hope.

Ana Curic, Mama von Jan (3)

Founding an association together
The three families then jointly founded the association "Let's cure MDS" (Instagram: dupmecp2) as a point of contact for those affected, to raise awareness and to drive research forward - because there is great hope: "Unfortunately, the disease is progressive, but there is research that could eventually cure the disease," say the young Wels residents confidently. At the same time, you can feel how much strength this friendship gives them: "They know exactly how we feel. Together, it's much easier to deal with this diagnosis," says the mother.

"It's a race against time," Ana Curic tells editor Lisa Stockhammer in an interview, explaining that she is not giving up hope that research will make progress.

(Bild: Wenzel Markus)

"He is quiet and observes a lot"
Jan himself doesn't seem to notice much of what's going on around him - he's beaming all over his face and seems full of life. When his dad reads to him from a book, he listens attentively and doesn't want to let go of his toy guitar - he is always in a good mood, but has to fight hard with lots of therapy to learn skills that are very easy for healthy children: "Jan is very quiet and observes a lot."

These are the symptoms

Developmental delay, intellectual impairment, lack of muscle tone, progressive spasticity, impaired motor coordination, lack of speech, epilepsy, recurrent infection, tooth-mouth disorder, premature mortality and many others.

His big brother Theo (6) sometimes wishes he had a brother who didn't have to go through so much and could enjoy life as much as he does - despite everything, the family is overjoyed to have their little fighter Jan with them.

If you would like to help, you can support the association financially: Keyword "Let's cure MDS" IBAN AT27 2011 1846 6994 4200 BIC: GIBAATWWXXX