16 Oct Unravelling the Unknown: The Search for a Diagnosis
Each year, thousands of babies are born with congenital anomalies — structural or functional differences that can affect development. While modern medicine has advanced dramatically, many families still face the uncertainty of a child’s undiagnosed condition. In Part 1, Clinical geneticist Dr Susan White reflects on what it means to search for a diagnosis — and to live without one.
When the jigsaw pieces don’t fit
Each year, hundreds of children are born with multiple abnormalities. Sometimes, the jigsaw pieces just don’t fit into a recognisable diagnosis, and that has ramifications for the child and their family.
In these cases, the paediatrician may refer the family to a genetics clinic. There, a clinical geneticist (a medical doctor who specialises in genetic disorders) will take a detailed medical and family history, perform an examination, and possibly order further tests.
Geneticists often act as medical detectives, trying to find a pattern that fits. However, despite the most advanced testing, there are still children for whom no diagnosis can be made. Today, newer genomic technologies such as chromosomal microarray and whole-exome or genome sequencing can sometimes solve previously unsolved cases, but even with these advances, many families still remain without clear answers.
Emma’s long journey to find answers
Emma was referred to our clinic when she was five. She was small for her age, had developmental delay, a cleft palate, and some unusual facial features.
Despite exhaustive tests and assessments, no cause was found. “We’ve been told that there’s no label for what she’s got,” her parents said. “But it doesn’t change how we care for her.”
Every few years, Emma returns to the genetics clinic, where I review her case and we discuss new tests that might lead to a diagnosis. Over time, her family has become less anxious about not having an answer. “At first we just wanted to know why,” her father told me, “but now we’ve learnt to live with the uncertainty.”
Why families return to genetics clinics again and again
Families often return seeking updates — has something new been discovered? Are there other children like ours? Would new testing finally provide the answers?
Emma’s mother once said, “I just want to know if it’s something we’ve passed on. I don’t want my child to go through what I’ve had to.”
For many children with conditions like Emma’s, the genetic change occurs for the first time in that child, meaning the chance of it happening again is usually very low. This can only be clarified through detailed genetic testing.
How new technology is changing old mysteries
In the last decade, remarkable progress has been made in understanding the human genome. Chromosomal microarray and genome sequencing have provided explanations for many families who once left clinics with no answers.
But while the technology has changed, the emotional landscape has not. The longing to understand, the fear of what might be found, and the resilience that grows in the absence of certainty remain constant.
- In contrast to Emma’s family, some parents receive a clear diagnosis early on — but that can bring its own challenges. Part 2 explores what happens when the answer you wished for arrives, and life must continue with a label.
- Some names have been changed to protect the confidentiality of the individuals involved.
Dr Susan White is a clinical geneticist based in Melbourne.
Editor’s note (2025, updated for the web):
Since this article was first written, genomic testing such as chromosomal microarray and whole-genome sequencing has transformed the search for answers in rare genetic conditions. While more families are now receiving diagnoses, many continue to live with uncertainty — making these reflections as relevant today as ever.
