The “JONAS Syndrome”
Jonas is ten years old. He has four kidneys and his spleen is too big. His other internal organs are hardly growing at all and their size is commensurate with those of a two-year-old. Jonas’ immune system is so weak that even a simple infection can quickly escalate into a life-threatening emergency. For years now doctors have been searching for a diagnosis – so far without any success.
At first glance, Jonas looks like his favorite soccer player, Mario Götze – his eyes are alert; his hair is short and blond; he has a winning smile, and he is constantly in motion. He wears jeans and dark-frame glasses and likes to spend time with his friends or with Luna, his dog. He loves playing outside, reads science magazines and already knows what he wants to be when he’s a grown-up: an agricultural contractor. Definitely not a soccer player, because Jonas doesn’t have enough lung volume. If he exerts himself physically, he turns blue in the face and collapses. His heart, like any of his other internal organs, is too small, too weak to support his body and the aspirations typical of a ten-year-old boy.
To take an exuberant swim in a cold mountain lake, then drink liters of Coca-Cola while lying with friends in the sunshine, eating potato chips and staying overnight in a tent? No way: Jonas’ body can’t do this. If he catches a cold, he can suffer from complications for months. His body’s reactions are uncontrollable: Suddenly, with no warning at all, it stops all production of Vitamin D; the sodium level in his bloodstream explodes; his iron levels suddenly drop down to zero; or there’s not enough oxygen in his blood. Jonas is never healthy. This little soccer fan always has one foot in the hospital, the doctor’s office or the ambulance. To go easy on his organs, he eats a low-sodium diet with no milk, gluten or sugar. He drinks no more than one liter of liquids per day. Because – depending on the state of his health – Jonas’ bladder can only hold between 60 and 140 ml. Normal for his age would be around 320 ml. At night, this ten-year-old boy has to wear diapers.
“There is no daily routine for us,” comment his parents – Anita, the mother, and Armin, the father. “We never know what sort of health problems Jonas has to contend with next. Our life is determined by his condition.” The family lives on a farm in Central Switzerland. Armin and his brother manage eight hectares of forest and 34 hectares of fruit trees and fields. There are 60 cows in the cowshed and 27 pigs in the pigsty. Dog Luna, tomcat King and a pigeon are also at home on the farm. The marten, however, made off with the other 29 birds.
So finally they knew why he still needed diapers even though he was five years old at the time. But now another question came to dominate the life of this family: What condition was Jonas suffering from?
Jonas was born in May 2008. “He started coughing when he was eight months old,” his mother Anita recalls. “He was diagnosed with whooping cough. Ultimately, though, Jonas ended up in intensive care in quarantine. His arterial oxygen saturation was a mere 35 percent.” Jonas’ biological father couldn’t deal with the situation and left his family. Even after Jonas returned from the hospital, he kept having cough attacks and had to fight off infections for months. This little boy was not just easily out of breath. He also turned blue in the face and at night his breathing sometimes stopped. Armin, Anita’s new partner, started helping them. Armin had become an important friend and a father figure for Jonas, an ally in his fight against shortness of breath and anxiety. Armin took to the paternal role fully and completely – also in terms of the law. He adopted Jonas. For both of them – Armin the father and Jonas the son – a dream had come true. The doctors were trying to reassure them, saying that as he got older, Jonas’ condition would normalize. That this boy still had to wear diapers at almost age five was duly ignored. “At some point I lost my patience and told Jonas off,” remembers his mother Anita. “He looked at me sadly and said: ‘I’d so like to be able to go to the bathroom – but I can’t feel it!’ That’s when I knew that something wasn’t quite right and that’s how I started with the diagnostic work-ups.” The doctors discovered that Jonas had four kidneys and that his spleen was too large. The kidneys were attached to one another forming a cluster and could not be separated. All the rest of his organs were too small for a boy his age – even the bladder. So finally they knew why he still needed diapers even though he was five years old at the time. But now another question came to dominate the life of this family: What condition was Jonas suffering from?
15 different drugs to no positive effect
Countless specialists have tried over the years to figure out Jonas’ illness. The boy was tested, scanned, X-rayed, received therapy, stimuli and work-ups. Urologists, allergy doctors, geneticists, immune specialists, oncologists, psychologists, family doctors, natural health practitioners, and homeopaths gave it their all – and failed. Some suspected he suffered from acute leukemia and wanted to give him drugs immediately to fight this cancer. That was a false alarm. Then hope rekindled when others gave him a different drug. But Jonas’ health did not improve; instead, he suffered damage to his eyesight. Now Jonas has to wear glasses. Then he was given two other substances but these drugs triggered an anaphylactic shock which put Jonas, who was a junior in high school at the time, in the emergency room. Jonas tried 15 different drugs – even a few that were only licensed for adults – and none of them had any positive effect on his condition.
One of my role models is Albert Einstein,” Jonas confidently admits. “He too was physically weak, but strong in his mind.”
“At this time, Jonas is not taking any medical drugs, only homeopathic medicines,” say Jonas’ parents, summing up their experience. “As long as there’s no remedy that actually works we won’t continue to submit Jonas to this torture.” What was left for them to try were physiotherapy, swimming classes organized by the Swiss Lung League to optimize lung volume, meridian stimulation, and an intensive form of therapy that is supposed to stimulate Jonas’ bladder and other organs during the night. This therapy went on for four to eight weeks and almost pushed the little family to its limit. Five times a night Jonas had to empty his bladder as a result of stimulation. His mother Anita woke him up and took care of him throughout the night. During the day, Jonas was too tired to go to school and stayed away from his classes. The ten-year-old is still able to follow the curriculum without any problems. Because of his high IQ, he recently skipped a grade. “One of my role models is Albert Einstein,” Jonas confidently admits. “He too was physically weak, but strong in his mind.”
“We need a diagnosis”
A sick, undiagnosed but highly intelligent child who doesn’t go to school or only attends classes sometimes constitutes quite a challenge for teachers, students and the school administration. “We need a diagnosis”: The principal recently once again demanded this, recalls Anita. Jonas only attends 5 classroom lessons a day – and afterwards he is so exhausted that he falls asleep. If he gets tired during classes, he not only has to fend off oxygen deprivation and turns slightly blue in the face around his eyes; he also creates a disturbance. “His current teachers are incredibly motivated and know how to deal with such a situation,” Anita underlines. “If need be, they can call me and I’ll go and collect my son and bring him home.”
“For many people, an illness only becomes real once it has a name. It’s possible to tamper with doctors’ reports and maybe the child isn’t ill; maybe he just hasn’t been raised properly.”
Nowadays, Jonas’ medical care is in the hands of two general practitioners who coordinate things and openly confess that they’re at a loss. Are the organs suddenly growing or have they stopped functioning? They don’t have an answer. Jonas lacks a diagnosis and for people not in the know that often means that he doesn’t have the right to be sick. “For many people, an illness only becomes real once it has a name,” says Jonas’ mother, Anita, describing her experience. “Anything other than that seems incomprehensible to many people, or they think it may just be imaginary or maybe it was erroneously interpreted. It’s possible to tamper with doctors’ reports and maybe the child isn’t ill; maybe he just hasn’t been raised properly.” Jonas is longing for a diagnosis – “so that I can feel better and mom can as well; so that she can get some sleep again for a change.” Because without a diagnosis, the family does not have the right to receive government support or even non-governmental assistance by Kinderspitex, a Swiss non-profit that cares for children in cases of chronic illness. And the family’s health insurance barely covers any of their costs; let’s not even mention IV (“Invalidenversicherung”), Switzerland’s mandatory disability insurance.
“Jonas’ illness is a domestic matter,” says Anita. “When faced with public institutions, we can’t come up with an explanation. We are forced to justify ourselves when he is completely exhausted and too weak to do anything. Jonas looks like a healthy ten-year-old boy – and, ‘officially’ speaking, he is not suffering from anything.” Armin adds: “A diagnosis would be important primarily for the other people around us and it would give us a little bit of peace.” While Jonas’ father takes care of the household and the farm, his mother cares for Jonas around the clock. She is nurse, homeschool teacher, schedule manager, motivator, nutritional coach, confidante, and mother all at once. On top of that, she works in her home-based cosmetics studio and nail spa. “To spend some time alone or as a couple, to go dancing once in a while – we don’t have any of that,” Armin admits. They rarely go on vacation together. For the past five years, they have been forced to spend all their time on physical exams, therapies and tests.
There is no Plan B; there is only this one path. We have to find out what’s wrong with Jonas.
“What’s mostly eating up all our energy is not the illness as such but everything that comes with it,” Armin and Anita concede. There are pages and pages of bills, which the insurance then refuses to pay after all; applications for governmental support, which are denied; hours spent driving to therapy sessions and consultations. It’s not really possible to take a break from all this. Last February, Anita suffered a breakdown and decided to make her son’s illness public by posting it on Facebook. She had struggled for weeks before making this decision but today she is glad she had the courage to go through with it. With help from the Förderverein für Kinder mit seltenen Krankheiten (KMSK), a Swiss association giving support to families with children suffering from rare illnesses, they are now in contact with other families with severely ill children. This is a new situation for them that gives them courage – Jonas, too. “We have all realized that we are not alone with this thing,” says Armin. “To talk about the issues and exchange information, but also to be weak without having to explain oneself and to network with others who may even take us one step further – this is incredibly valuable.” To be a member of this association almost works like a diagnosis with respect to people outside of their circle – “because if you’re a member of this association, you’re bound to have a serious illness.”
To give up – that’s not an option for Armin and Anita. There is no Plan B; there is only this one path. We have to find out what’s wrong with Jonas,” both of them agree. Jonas nods his head yes. What he would like? “Not to wear diapers any more, that mom and dad get married, take a trip to the coast, run in the races on sports day in school – and if someone figures out my illness, that it should bear my name: Jonas Syndrome.”
Originally published September 2018, “KMSK-Book 2018” (www.kmsk.ch)