We were overseas at the time, surrounded by family and friends, enjoying those early months with our newborn. Like any parents, we were proud, introducing her to everyone and soaking in those moments.
Around six months of age, we started to notice something that did not feel right.
Her eyes began moving in unusual ways, not just side to side, but in multiple directions. At first, we did not know what we were seeing. We questioned ourselves. Was this normal? Were we overthinking it?
But deep down, we knew something was not right.
First medical concerns
When we returned home, we went straight to a local doctor, who referred us to an ophthalmologist (eye specialist).
After examining her, the specialist told us she had nystagmus, a condition involving involuntary, rapid eye movements.
But something did not add up.
He explained that her nystagmus was atypical. It did not follow the usual pattern doctors expect to see. Instead of a consistent movement, her eyes moved unpredictably, which raised concern.
That uncertainty was the first moment we realised this might be something more serious.
Referral to specialists
We were then referred to Royal Children’s Hospital (RCH), where a team of specialists began a deeper investigation.
At this stage, things became overwhelming.
Our daughter was still very young. She could not tell us what she could see or how she felt. Every decision had to be based on observation, testing, and medical interpretation.
We quickly noticed something difficult. Different specialists had different opinions.
There was no clear answer.
Early testing and fear
Doctors recommended further investigations, including an MRI scan (Magnetic Resonance Imaging) of her brain.
The results showed a possible concern. There appeared to be a variation around the optic nerve and surrounding structures.
For us, this was terrifying.
We started asking ourselves:
- Is something pressing on her optic nerve?
- Is this a brain issue?
- Could this be permanent damage?
For a period of time, we lived in uncertainty.
Ruling out structural causes
After further review, the medical team determined that although there were minor anatomical variations, they were not significant enough to explain her symptoms.
In other words, the structure of the brain was not the cause.
This was a relief, but also frustrating.
Because if it was not structural, then what was causing it?
Looking deeper: functional and sensory clues
We were referred to additional specialists to assess her vision in more detail.
They began evaluating:
- How her eyes responded to light
- How much visual information she could process
- Whether her retina was functioning properly
At this stage, another key symptom became clear.
She had photophobia, extreme sensitivity to light, which explained why she would often squint or appear uncomfortable in bright environments.
This pointed doctors toward a retinal problem, rather than just an eye movement issue.
The turning point: suspecting a genetic condition
After reviewing her symptoms:
- nystagmus (involuntary eye movements)
- photophobia (light sensitivity)
- concerns about visual function
One specialist suggested something that changed everything:
“We should consider genetic testing.”
They explained that her presentation could be linked to a genetic retinal disorder, possibly involving cone-rod dystrophy, a condition where the light-sensing cells in the retina gradually stop working.
This was the first time we realised this might not just be an eye issue. It could be something affecting the whole body.
Waiting for answers
We agreed to proceed with genetic testing.
Then came one of the hardest parts of the journey: waiting.
It took several months for approval, testing, and results.
During that time, we lived in uncertainty, holding onto hope, but preparing for anything.
The diagnosis
When the results finally came back, everything changed.
The genetic specialist sat with us and explained our daughter had Alström syndrome.
A condition we had never heard of.
Understanding what it meant
We were told that Alström syndrome is a rare genetic disorder caused by mutations in the ALMS1 gene, affecting multiple systems in the body.
It is known as a ciliopathy, a condition where tiny structures in cells called cilia do not function properly, leading to widespread effects across the body.
Then came the part that broke us. It is progressive.
Not just vision, but potentially:
- Hearing
- Heart (cardiomyopathy)
- Metabolism (insulin resistance, diabetes)
- Liver and kidneys
This is because the condition affects multiple organ systems over time.
That moment
Up until that point, we had been hoping for something manageable. Something isolated. Something we could fix.
But this was different.
This was lifelong. This was uncertain. This was bigger than anything we had imagined.
Our world stopped in that moment.
Looking back
What started as small eye movements at six months turned out to be the first sign of a complex, multi-system genetic condition.
And like many families, we learned something important.
Diagnosis does not happen instantly. It unfolds through confusion, through fear, through unanswered questions, until finally you have a name.