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When it comes to diseases that affect humans, some are more predictable than others. On the one hand, there are diseases that doctors already know a lot about, and which tend to affect most people in the same way. On the other hand, there are diseases that are poorly understood, and whose symptoms vary greatly from person to person. But one of the few things worse than living with an unpredictable disease is dealing with one that eludes diagnosis completely.
So-called "undiagnosed diseases" are rare, but they do exist, and they disproportionately affect children under the age of five. Indeed, for the parents and carers of a child with an undiagnosed disease, life can be very difficult. Check out this gallery to find out more.
An undiagnosed disease is best defined as a medical condition that has no ascertainable cause, despite extensive evaluation.
They are considered rare but nonetheless affect millions of people. Indeed, according to the BBC, "undiagnosed" or "rare" conditions affect up to 350 million people around the world.
Undiagnosed diseases disproportionately affect children under the age of five. According to one report, they make up 50% of cases. Nearly 30% of those undiagnosed cases cause the death of children before they even reach the age of five.
In fact, in the UK alone, 6,000 children are born every year with "syndromes without a name," otherwise referred to as Swanis.
Part of the problem with undiagnosed diseases in children has to do with the way that doctors are trained to handle worried parents.
In the vast majority of cases, when children present with a symptom it is not caused by a serious disease. Rather, it is more likely to be something minor or temporary.
As a result, the general approach of doctors is to reassure parents that their child's symptoms are nothing serious, and to send them on their way.
The problem is, of course, that this approach can backfire, and the doctor may end up dismissing a symptom, or a range of symptoms, that is caused by something more serious.
This is what happened to couple Helene and Mikk Cederroth, whose second child, Wilhelm, developed a myriad of health problems during his early years.
When he was born, Wilhelm seemed perfectly healthy. However, by the age of one, he had developed epilepsy and chronic stomach problems.
By the age of three he had developed an inflammation of the upper airways called false croup, and at the age of five he had a serious reaction to picking raspberries that doctors were unable to explain.
Doctors reassured Wilhelm's parents that whatever was causing his symptoms was not genetic, and they went on to have two more children.
Their next two children, Hugo and Emma, showed signs of epilepsy much earlier than their older brother. Emma had her first seizure at just 30 minutes old.
Tragically, all three of these siblings died before reaching adulthood, and none of them ever received a causative diagnosis.
Despite endless attempts by their parents to find out what was going on, doctors were unable to find a unifying diagnosis that would explain all the health issues, or the link between them.
To make matters worse, if these three children had been born later, they may have had a better chance of receiving a diagnosis.
Indeed, thanks to increased funding, more work has been done in recent years to provide answers for parents of children suffering from a disease with no name.
In 2023, thousands of children in the UK alone finally received a diagnosis, thanks to a study that found 60 news diseases.
This is not to say that receiving a diagnosis would have meant that Wilhelm, Hugo, and Emma would have been cured, however.
It may, however, have given their parents the comfort of knowing that there was an explanation for what was going on with their children's bodies.
Indeed, parents whose children are sick already have enough on their plates, without having to deal with the uncertainty of an unknown disease.
In the US, a consortium of 12 research teams and clinical centers across the country is working to shed light on these sorts of medical mysteries.
The Undiagnosed Diseases Network was founded in 2016. During the first two years alone, it was able to identify 31 new syndromes and diagnose 132 patients.
In 2024, the Undiagnosed Diseases Network successfully diagnosed 676 patients, and has described a total of 53 new conditions.
However, funding for this kind of work continues to be a challenge, and this organization's support from the National Institutes of Health Common Fund is set to end in 2024.
However, there are charities, such as the Wilhelm Foundation, that focus on raising money for research into undiagnosed diseases.
There is also an annual congress on undiagnosed diseases that was first organized by Wilhelm's parents in 2014 and which is still attended by top experts today.
In 2022, Helene and Mikk Cederroth were approached by a top geneticist, who believes that their children may have suffered from a new disease.
While it may be too late to save Wilhelm, Hugo, and Emma, their parents may be able to use the knowledge they gain about their children's illness to help save another child's life.
Sources: (BBC)
See also: The oldest known diseases in the world
The tragedy of diseases that have no name
The problem with undiagnosed medical conditions
HEALTH Medical
When it comes to diseases that affect humans, some are more predictable than others. On the one hand, there are diseases that doctors already know a lot about, and which tend to affect most people in the same way. On the other hand, there are diseases that are poorly understood, and whose symptoms vary greatly from person to person. But one of the few things worse than living with an unpredictable disease is dealing with one that eludes diagnosis completely.
So-called "undiagnosed diseases" are rare, but they do exist, and they disproportionately affect children under the age of five. Indeed, for the parents and carers of a child with an undiagnosed disease, life can be very difficult. Check out this gallery to find out more.