23 Oct Unravelling the Unknown: Living With a Diagnosis
For some families, the long wait for a diagnosis ends early — but that moment can be as confronting as it is clarifying. In Part 2, Clinical geneticist Dr Susan White explores what happens when a label finally arrives, and how parents and children learn to live with its implications.
When a name brings both comfort and fear
A diagnosis can be confronting. It may bring bad news about the future or frightening predictions that never eventuate. Yet for many families today, a diagnosis can also bring practical benefits — helping doctors plan care, connect families with support groups, and, in some cases, offer targeted treatments.
Adam’s story: A label that explains and complicates
Adam was born with several physical differences and early developmental delay. Testing soon revealed that he had a recognised chromosomal condition. His parents were told that children with this condition often have learning difficulties and may face health challenges later in life.
“I remember feeling both relief and grief,” his mother said. “We finally had a name for it, but it came with so many unknowns.”
In the years that followed, Adam made steady progress. He began to walk, talk, and learn — always a little behind his peers but full of curiosity and humour. His parents became experts in navigating medical appointments and advocating at school. “The label helped us explain things to teachers,” his father told me. “But we’ve also had to remind people that it doesn’t define who he is.”
The lifelong impact of genetic answers
A diagnosis can change expectations — sometimes too much. Parents and teachers may underestimate what a child can achieve once a condition is named. Others may overcompensate, trying to deny the label entirely. The truth usually lies somewhere in between: understanding the diagnosis while continuing to see the whole child.
For Adam’s parents, that balance has come with time. “We’ve stopped looking for what he can’t do and started celebrating what he can,” his mother said. “That’s made all the difference.”
Finding hope beyond the diagnosis
For clinicians, the challenge is to help families make sense of information that may be incomplete, uncertain, or evolving. Even when we find the genetic change, the outcome for each child remains unique.
As technology advances, the number of unsolved cases continues to shrink, but the emotional complexity of living with — or without — a diagnosis remains.
Families like Emma’s and Adam’s remind us that understanding a child’s condition is only part of the story. The deeper task is learning to live well with whatever knowledge we have — and to find hope, meaning, and connection in the face of uncertainty.
- Some names have been changed to protect the confidentiality of the individuals involved.
Dr Susan White is a clinical geneticist based in Melbourne.
See Part 1 here
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.
