The KBG Boy

The KBG Boy

The children love Marwin, his fearlessness, wildness and imagination. With his triangular face, prominent teeth, protruding ears and a covered eye, he could pass for a playful pirate. Most parents, though, feel bothered by him because he’s loud. What they don’t know is that Marwin suffers from KBG syndrome.

Marwin wears the patch on his eye involuntarily because he was diagnosed with microstrabismus. If his caregivers ignored this abnormality, he would go blind in one eye. Two hearing aids are “perched” behind his big ears so as to help the little rascal take cognizance of his environment. His large front teeth are too big for the child’s small jaws.

While he might initially come across as a playful pirate, Marwin has actually been diagnosed with developmental delays, behavioral problems and hyperactivity. “Marwin is a surprise package because of his illness,” says Natascha, his mother. Many of his symptoms are still in the discovery phase. “We don’t know how he will develop, since new diagnoses keep rolling in, including for autism spectrum disorder and celiac disease,” she adds. The risk that Marwin could later develop epilepsy is also very real. 

KBG has nothing to do with the Soviet secret police called KGB but stands for the initials of the first three families with a confirmed diagnosis.

Marwin suffers from KBG syndrome, a mutation in the ANKRD11 gene on chromosome 16. The disease was first diagnosed in 1975. Today, there are about 550 known cases worldwide; three of them in Switzerland. KBG has nothing to do with the Soviet secret police called KGB but stands for the initials of the first three families with a confirmed diagnosis. The syndrome comes in a wide variety of forms, ranging from physical complaints to developmental delays and mental disabilities. The triangular face, high forehead, unusually large upper front teeth, and the protruding ears are typical of KBG syndrome, as are short stature, spine-and-rib deformities, but also hand abnormalities. If it were up to appearance alone, KBG syndrome – such as Marwin’s – wouldn’t be something laypeople could easily recognize. In other words, people don’t understand much about the children affected by it or about their visibly anomalous behavior.

KBG expert team and a 24-hour task force  
“Marwin has trouble filtering and weighing stimuli,” his parents, Natascha and Martin, sum up the situation. The 7-year-old has trouble assessing risks and determining priorities. For example, Marwin spontaneously jumps onto the street to wave at an approaching truck. He dives into the pool and stays underwater until he’s about to drown from exhaustion. If Marwin injures himself with the scissors while making something, he only notices it when he’s bleeding heavily. He has a delayed reaction to pain which only kicks in above a certain threshold of intensity. It makes no difference to him whether his favorite plush toy or his little sister isn’t doing well. “Marwin needs someone at his side to help him assess limits and determine the importance of things,” his mother Natascha explains. 

“As far as treatments and therapies go, neither a manual nor any empirical information exists. We have a standard-size sheet of paper listing all the complications that frequently occur in KBG children. That’s our guide.”

Since Marwin’s birth, his parents have refused to reduce their lovable and active son to his shortcomings. They didn’t embark on finding out what was wrong until he was 2.5 years old. A year later, Marwin was diagnosed with KBG syndrome. “The diagnosis was a relief. Now we finally knew what was wrong with him. On the other hand, this marked the start of our search for information and experts,” recalls Natascha. But there still aren’t any of those today. As far as treatments and therapies go, neither a manual nor any empirical information exists. Natascha and Martin joined a Facebook group where they exchange information with other families suffering from KBG. “We have a standard-size sheet of paper listing all the complications that frequently occur in KBG children and constantly add to it,” they say in agreement. “That’s our guide.” The two of them research, evaluate and ultimately decide for themselves what kind of examinations and assessments Marwin should undergo.

These days, Natascha and Martin are not only spouses and parents of two children, but also KBG experts and sole members of a 24-hour task force. “Marwin already needed a lot of care as a small child,” the two of them explain. “Apart from us, there was no one there to cover for us when we needed to spend an enormous amount of time with him. We consciously chose Marwin and just as consciously decided to take care of him on our own.” If they do need help, they find it online from other families affected by KBG.

The family’s approach to caring for Marwin has nevertheless changed over the years. In the summer of 2022, Marwin started 1st grade at the village school, where he received support from a speech therapist and a classroom assistant. His younger sister is in kindergarten. Martin and Natascha still share the task of caring for the children when they aren’t in school. The father, Martin, has a half-time work week and works in shifts, often on weekends. He starts at 4 a.m. and is home at noon. The mother, Natascha, works at an insurance company where she works an 80-percent week.

“Outsiders seem to read Marwin as an unruly brat and us as incompetent parents. That’s where it ends for most people.” 

“The crucial point is communication, says Martin, adding: “It is important to talk things over and also to intentionally leave some things as they are.” It was through Parent-Child Interaction Therapy (PCIT), that they learned not only to bolster Marwin’s health but also to strengthen their bonds as a couple and family. “It is clear that Marwin usually absorbs most of our attention. But I intentionally spend time with his younger sister,” Natascha emphasizes. They hardly have any time for themselves as a couple, let alone for themselves as individuals. “For me, the quiet lunches during my work week or the occasional jog represent a break,” says Natascha. In the evening, when the kids are in bed, Martin and Natasha are completely drained of energy. But that’s exactly when they should to fill out applications for support and look into new research about Marwin’s condition. 

Unruly kid and incompetent parents  
When Natasha and Martin reach their limits, the children’s grandparents step in – but these, as well as siblings and friends, live far away. Long distances and lots of changes confuse Martin, leading to sensory overloads and emotional outbursts. To go “somewhere quickly” overwhelms Marwin and those around him. Security and stability create repetitive structures, processes and rituals.

Over the past two years, the couple’s relationships with friends have suffered greatly due to the coronavirus pandemic and the restrictions placed on meeting others. People in their immediate environment – neighbors, acquaintances and kindergarten parents – keep their distance from Marwin. “When people complain or comment about Marwin’s behavior, they never address us directly but rather do it in a roundabout way,” observe Natasha and Martin. “There’s a huge psychological barrier when it comes to telling us anything face-to-face. Outsiders seem to read him as an unruly brat and us as incompetent parents. That’s where it ends for most people.” 

Natasha and Martin would like to see more direct communication on this issue, a society that allows for diversity, and a contact point that provides clear-and-easy access to support offers and help. This doesn’t matter much to Marwin. He’s happy. He likes the constant attention he gets and the regular appointments. At home, in the huge garden, he can give free reign to his energy and imagination – and build a wood statue, unscrew a radio, play in the sandbox, immerse himself in fantasy stories and repeat them aloud over and over, help with garden work, splash around in the pool and just be his spirited, loud and happy self.

published 2022 in “KMSK Wissensbuch” https://www.kmsk.ch