Zeki’s Future Hinges on Medication

Bottrop – The gene CTNNB1 produces the protein beta-catenin. Simply put, the protein’s job is to transmit nerve signals from the brain to the body. With Zeki Younes (4) from Bottrop in Ruhr area Unfortunately, the gene in question does not work. He is one of around 500 known cases worldwide CTNNB1 Syndrome Suffer. The number of unreported cases is guaranteed to be higher. The defect was first discovered in 2012.

“It was a long road until we finally knew what was wrong with him,” says Zeki’s dad Bülent Günebakan (44). Blood, urine, cerebrospinal fluid tests, CTs, MRIs – since Zeki’s first months of life, he has been completing a seemingly never-ending medical marathon. “We noticed that something was wrong with him because he couldn’t hold his head up on his own,” remembers Papa Bülent, who works as a caretaker at the student union at the University of Duisburg-Essen.

But it was only a genetic analysis at the Düsseldorf University Hospital that solved the medical puzzle. The finding states: “The genetic change in Zeki is extremely rare. There are around 50 children and adolescents known to have a change in the CTNNB1 gene.” And only one person “in older adulthood”.

A freak of nature and a diagnosis of no return. “Zeki can’t speak, still wears diapers and can only walk a few steps with his toes while holding his hand. His knees always buckle,” reports Bülent Günebakan. It’s only been a few weeks since he’s been able to drink through a straw and point to things he wants.

Zeki’s mother Zeinab (38) gave up her job as a saleswoman: “My life only revolves around Zeki. I sacrificed myself completely for him,” she says through tears. Although the little one has been cared for on an hourly basis in an inclusive daycare center for a year, the family of five – Zeki also has two big sisters (15, 12) – have adjusted to the fact that the youngest offspring will always need their help. Unless the medicine creates a sensation…

“We are taking part in a study for a drug part that is still in development,” says Zeinab. “It is currently being tested on mice.” The first tests are promising. The drug is supposed to introduce the missing protein into the body. Does it only have to be injected once or repeatedly? Still unclear. “At the moment it also looks like it is being injected into the brain. We don’t yet know whether we will accept the risk for Zeki,” worries Bülent Günebakan. “But we are clutching at straws. We can’t always be there for Zeki.”

But research costs millions. That’s why the family is also collecting money for Zeki’s future via the “gofundme” donation page. The goal is 15,000 euros. For a disabled-accessible bathroom in their condominium, for an outside elevator that leads to Zeki’s room on the first floor as soon as his parents can no longer carry him up the stairwell. “And as savings for the drug if it were to be approved,” says Bülent Günebakan. “It should cost around 100,000 euros.”

In addition: “We have to fight for everything with the health insurance companies. The classification of Zeki as care level 4 alone was exhausting with a lot of paperwork and contradictions.” And yet most applications such as riding or dolphin therapy have to be paid for by yourself, and deductibles for orthoses etc. go beyond the budget.

In June the family travels to a medical conference CTNNB1 Foundation to Slovenia, wants to get more information about the drug there and Zeki will have to undergo examinations as a study participant. And how is Zeki doing? “Actually good in his world,” says his father. “But no one can tell us what’s coming next…”