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"It's all in your head."
Helena Sederot lost count of how many times the doctors told her that.
And yet she knew, very soon after her son Vilhelm was born in 1983, that something was not quite right with her second child.
"He looked like a perfect baby with red cheeks," says Helena.
"Everyone at the hospital thought he was perfectly fine."
When he turned one, Wilhelm developed epilepsy and chronic stomach problems.
When he turned three, he developed an upper respiratory tract infection known as false croup, and his family was told he had asthma.
Helena was nowhere near satisfied - she wanted to know more.
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What exactly was causing these medical conditions? Are they related? And can they be cured?
Helena was looking for what in the medical world is called a causal diagnosis - one unifying diagnosis that can explain all of Wilhelm's health problems.
She says that it was the only way to better understand the course of Wilhelm's illness and his chances of recovery.
Unfortunately, Wilhelm's experience was only the beginning of his family's difficult journey with the enigma of undiagnosed illnesses.
Mysterious conditions
Undiagnosed disease is a medical condition with no known cause, despite extensive investigations.
Although undiagnosed diseases are relatively rare, they still affect millions.
I do 350 million people worldwide has an "undiagnosed" or "rare" condition, defined as one that affects less than one person per 2.000 members of the general population in the European Union or on 200.000 people in America.
Children under the age of five are disproportionately affected by this - they account for 50 percent of cases, of which 30 percent die before the age of five. according to one report.
Only in Great Britain, it is born every year 6.000 children with "syndromes without a name".
Coping with a child's medical problems is difficult enough in itself, but the absence of a diagnosis opens up a host of additional challenges for doctors and families.
This is something he knows very well Anna Džuit, a nurse specializing in helping children with unexplained symptoms, who works at Great Ormond Street Hospital in London,
Without an explanation for the health of their children, parents feel lost and alone.
Sometimes, despite their concerns, caregivers are told that their children are "normal."
Then again, it's "often the worst thing for a parent with a child with an undiagnosed condition," says Jewitt.
One of the difficulties is that most children who have a symptom do not actually have a serious illness.
It is generally more likely that it is a minor or temporary illness.
That's why most parents need reassurance that their child is fine, not dozens of lab tests and weeks and weeks of additional medical tests.
"If you take 100 parents who come with some sort of complaint, most need to be reassured that nothing is happening," he says. to William Gal, a senior investigator at the National Genome Institute in Bethesda, Maryland.
But in some cases this tactic can backfire - just like it did with Wilhelm.
The doctors assured Helena and her husband Mike that there was nothing wrong with their baby's health, just a bad combination of simultaneous epilepsy, asthma and false croup together.
However, the married couple insisted on new medical examinations.
Meanwhile, life went on.
"Wilhelm was great at school and had many friends. He was a good boy. The teachers at school said that he would become the Secretary General of the United Nations," recalls Helena.
"He was funny. He was like a normal boy."
Like most normal children, Wilhelm and his older sister would come home from school with pesky flus and infections.
But for Vilhlem, recovery always took longer than usual.
Helena always got the same answer from the doctor: "For some children, it's just like that."
One afternoon when Wilhelm was five years old, he went out to pick raspberries.
When he got inside, he started coughing so hard that his eyes were bloodshot.
His face swelled, after which he developed a high fever.
Doctors had never seen a flurry of symptoms like these, but they couldn't even find what was wrong.
Doctors assured Helena that whatever was causing Wilhelm's various symptoms was not hereditary or genetic.
When Vilhelm was eight years old, Helena and Mik had their third child, Hugo.
However, up to 80 percent of undiagnosed and rare conditions are genetic.
But, as Gal points out, most doctors are not geneticists.
"Part of the problem is that doctors want to reassure parents that they can have another child. "When they don't know the genetic cause, they can't estimate the percentage of the recurrence rate," he says.
"Sometimes they'll automatically say, 'We don't think this is genetic' — and the basis for that is that there's no known genetic cause."
Gal says it's "not the best automatic response" for parents.
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Life with uncertainty
In the third trimester of her pregnancy with Hugo, Helena felt an unusual movement - a chaotic kicking of her legs that reminded her of small children with epilepsy.
She hadn't felt anything like that before with Wilhelm or his older sister.
The doctors told her that the baby had hiccups.
Hugo was born on December 27, 1991.
When he was only six hours old, he had his first seizure.
Helen's suspicions were correct - Hugo had epilepsy.
Hugo spent the first six months of his life in the hospital.
To add to the family's trauma, his medical team began to suspect that Mick was hurting Hugo.
"My husband still can't get over it," says Helena.
"You kind of start dreading going to the hospital."
Helena remembers that the special team assessed what kind of parents they were.
"It's the scariest thing I've ever had to go through," she says.
The fear of judgment is something Jewitt often hears in conversations with the families he tries to reassure.
For some parents, it's "the feeling that people don't trust them and call them an overprotective mother," she says.
"Others who don't come from privileged backgrounds might feel like they're being judged."
There were moments of hope for the family.
When Hugo was 18 months old, Helena was told that he would never walk or sit up on his own.
The same day they arrived home from the hospital, a determined Hugo sat up on the corner sofa.
"He turned around and took eight steps, proving the doctors wrong," she says.
In the end, he was not only walking, but also running.
Helena became pregnant with her fourth child.
They had a daughter, which gave her parents an extra glimmer of hope - their eldest child, a girl, was in good health, and Helena was told that the symptoms Wilhelm and Hugo had (such as epilepsy) only affected boys.
Ema was born on January 24, 1994.
When she was only 30 minutes old, she had her first seizure.
"Nature's Cruel Lottery"
Over the next few years, Emma grew into a mischievous little girl who loved to make her parents laugh.
Like Hugo, she adored animals.
Despite the children's problems, which in addition to epilepsy included autism and apnea, family life continued as best it could - as is usual with many families with children who have chronic undiagnosed diseases.
But the search for answers continued.
What, Helena and Mick wondered, is the overarching cause that connects all the symptoms that plague Wilhelm, Hugo and Emma?
The family met with specialists at Great Ormond Street Hospital in London and from Johns Hopkins University in the US.
Doctors were unable to discern what was happening, describing the children's condition as "nature's cruel lottery".
And then Wilhelm turned 12 and his condition began to deteriorate rapidly.
Now there was a new cause for concern - childhood dementia.
He forgot that he was riding a bicycle.
He would run straight into the nettles, not understanding the risk.
Homework became a constant struggle.
And while earlier he played with Hugo and Emma as if he were their older brother, now he started playing with them as if they were his peers.
When Vilhelm did not recognize her grandmother one day, Helena realized that she was regressing.
In Austria, Vilhelm underwent specialist treatment with the permission of the state board for medical ethics.
This was followed in 1997 and 1998 by research by a French-Swiss team that investigated whether three siblings had mitochondrial disease.
Helena and the children underwent DNA sequencing, but it did not bring any answers.
The family might have different results if they went through the same process today - the human genome project, whose goal was to identify the classification of all DNA bases to arrive at the "genetic fingerprint" of people, was launched in 1990.
Completed in 2003 and radically improved our understanding of the emergence of new diseases.
Exome testing, which looks specifically at protein code regions in the genome (which make up about two percent of the entire genome), has become particularly useful, Gal says.
But in the 1990s, genome sequencing was too weak to help Wilhelm.
When he was 15, it became obvious that he would not recover.
He was brought home for palliative care with the help of a team of nurses.
He died on September 2, 1999, at the age of 16.
An autopsy found no clear cause of death.
After the loss of Vilhelm, Helena and Mik faced a whole series of new challenges.
Their youngest child, Emma, fell into her first coma three weeks after Wilhelm's funeral, which they believe was caused by a virus.
She recovered, but in the following months she continued to occasionally fall into a coma, until the doctors realized that there was nothing more they could do.
Emma died at home on December 20, 2000, surrounded by her loved ones.
She was six years old.
Less than two years later, on December 8, 2002, the family lost Hugo before his 11th birthday.
He started having lung problems and complications with epilepsy.
As Hugo's health deteriorated, his father asked a local construction firm for a favor.
They agreed to park the excavator outside Hugo's window.
Carrying his backpack with intravenous solution, Mik would take Hugo on rides and digging together.
Just like Emma and Wilhelm before him, Hugo's parting words to Helena were, "Thank you, Mom."
None of the three children received a causal diagnosis that would explain their conditions or identify the connection between them.
If they were born later, perhaps more would be known.
In the UK in 2023, thousands of children with severe developmental disorders have finally been diagnosed, through the study which discovered 60 new diseases.
In America, Network of undiagnosed diseases - a consortium of 12 research teams and clinical centers from across the country - is also working to solve these medical mysteries.
Only two years after it was founded, in 2018 the consortium identified 31 new syndromes and diagnosed 132 patients.
To date, he has evaluated more than 2.200 patients and successfully diagnosed 676 of them.
He described a total of 53 new conditions.
Funding for this type of work, however, continues to be a problem and support for the Undiagnosed Diseases Network from the National Institute for Health Fund will be suspended this year.
Helena admits that a comprehensive diagnosis might not have saved her children's lives.
However, she believes that it would at least offer an explanation for what was happening to their bodies.
Plus, says Jewitt, diagnoses can "open doors," if only for "simple things like donating to a charity for support."
After the death of their children, Helena and Mick turned their attention to fundraising themselves, founding a charity Wilhelm Foundation.
They were dissatisfied with the lack of cooperation between doctors from all over the world who treated their children.
Recognizing this, as well as the additional challenges that families face in middle and low income countries, they gathered top experts for the world congress on undiagnosed diseases in 2014.
Annual gatherings they continue to this day.
Vilhelm, Hugo and Ema all died before Christmas and that time of year is still difficult for Helena and Mika.
Ema especially loved the holiday season.
She always said that she would like to paint Santa's beard blue, her favorite color.
During her last days in a coma, Emma was visited by Santa Claus with a blue beard.
Helena was sure she heard Emma make a sound of pure joy when she felt him enter the room.
"Or maybe," she says, "it was just in our heads."
Two years ago, Helena and Mick were approached by a top diagnostic geneticist who believed their children probably had a new disease.
The two have since attached genetics samples for whole genome sequencing.
Unfortunately, it is too late to help Wilhelm, Hugo or Emma.
But there's still time, they say, to use what's been learned about their family to save another child's life.
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