The painful puzzle of diseases that have no name
Krupa Padhy/ BBC:
“It’s all in your mind.”Helene Cederroth has lost count of the number of times doctors have said this to her. Yet she knew, soon after her son Wilhelm was born in 1983, that something wasn’t quite right with her second child.
“He looked like a perfect baby with red cheeks,” says Helene. “Everyone at the hospital thought he was perfectly healthy.” But by the time he reached one year old, Wilhelm had developed epilepsy and chronic stomach problems. By the age of three, he developed an inflammation of the upper airways known as false croup, and his family was told he had asthma.Helene was far from satisfied. She wanted to know more. What was causing these medical conditions, specifically? Were they related? And could they be cured?
Helene was seeking what is known in the medical world as a causative diagnosis: one unifying diagnosis that could explain all of Wilhelm’s health issues. She says this was the only way to get a better understanding of the course of Wilhelm’s disease – and of his chances of a recovery.
Sadly, Wilhelm’s experience was only the start of his family’s fraught journey with the enigma of undiagnosed diseases.
An undiagnosed disease is a medical condition without a known cause, despite extensive evaluation. While undiagnosed diseases are relatively rare, they still affect millions. Up to 350 million people around the world have an “undiagnosed” or “rare” condition (a rare condition is defined as affecting less than one in 2,000 of the general population in the European Union or fewer than 200,000 people in the US).Children under the age of five are disproportionately affected: they make up 50% of cases, 30% of whom will die before the age of five, according to one report. In the UK alone, 6,000 children are born each year with “syndromes without a name” (Swanis).
Dealing with a child’s medical challenges is hard enough. But going without a diagnosis opens up a myriad of added challenges for clinicians and families. That’s something Anna Jewitt, a clinical nurse specialist for Swan children at the Great Ormond Street Hospital in London, knows well. Without an explanation for their child’s health, parents are left feeling lost and alone. Sometimes, despite their concerns, caregivers are told their child is “normal”. Yet this “is often the worst word for a parent with a child with an undiagnosed condition”, says Jewitt.
One difficulty is that most child who present with a symptom do not have a serious disease. Generally, it’s more likely to be something minor or temporary. As a result, most parents need reassurance that their child is fine – not dozens of laboratory tests and weeks of additional medical investigation.
“If you were to take 100 parents who come in with complaints, most of them do need the reassurance that nothing is going on,” says William Gahl, a senior investigator at the National Human Genome Institute in Bethesda, Maryland.
But in some cases, that tactic can backfire – as it did with Wilhelm. Physicians reassured Helene and her husband Mikk that there was nothing sinister going on with their baby’s health, just a bad-luck hand of epilepsy, asthma and false croup together. Unconvinced, the couple pressed on with medical investigations. In the meantime, life went on. “Wilhelm was great in school with lots of friends. He was a kind boy. The teachers in the school said he would be the United Nations General Secretary,” remembers Helene. “He was fun. He was like a normal boy.”
Like most normal kids, Wilhelm and his elder sister would come home from school with pesky bugs and infections. But for Wilhelm, recovery was beginning to take longer than usual. Helene was met with the same response from doctors: “for some children, that’s just the way it is”.
One afternoon when Wilhelm was five, he went out to pick raspberries. When he came inside, he had a cough so intense his eyes became bloodshot. His face swelled, followed by a high fever. Doctors had never seen a raft of symptoms quite like this, but they also couldn’t find anything wrong.
Helene was assured by the doctors that whatever was causing Wilhelm’s various symptoms, it wasn’t hereditary or genetic. When Wilhelm was eight years old, Helene and Mikk went on to have their third child, Hugo.
In fact, up to 80% of undiagnosed and rare conditions are genetic. But as Gahl points out, most physicians are not geneticists. “Part of the issue is physicians want to reassure the parents that they can have a second child. When they don’t know what the genetic cause is, they can’t put an estimate on the percentage recurrence rate,” he says. “Sometimes the default will be to say, ‘We don’t think it is genetic’ – and the basis for that is that there is no known genetic cause.” Gahl says that “it’s not the best default” answer to give parents.orse, his medical team became suspicious that Mikk was shaking Hugo.
“That’s still in my husband’s head today,” Helene says. “In some ways you are afraid to go to the hospital.” Helene remembers having her parenting monitored by the team. “It was the most horrible thing I’ve ever gone through,” she says.
Fear of judgement is something Jewitt hears in her conversations with the many families she tries to reassure. For some parents it’s “feeling like people don’t believe them, and being called an overanxious mother”, she says. “Others who don’t come from privileged backgrounds might feel like they are being judged.”
There were moments of hope for the family. When Hugo was 18 months old, Helene was told he would never walk or sit by himself. The same day they went home from hospital, a determined Hugo propped himself up on a corner sofa. “He turned around and walked eight steps, proving the doctors wrong,” she says. He went on to not only walk, but run.
Helene became pregnant again with her fourth child. She was a daughter, and this gave her parents additional hope: their oldest, a girl, had good health, and Helene was told the symptoms Wilhelm and Hugo were experiencing (such as epilepsy) only impacted boys.
Emma was born on 24 January 1994. At 30 minutes old, she had her first seizure.
‘Nature’s cruel lottery’
Over the next several years, Emma grew into a mischievous character who loved to make her parents laugh. Like Hugo, she adored animals. Despite the children’s challenges, which included autism and sleep apnoea in addition to epilepsy, family life continued as best it could – as is common among many families.