Early Signs We Noticed
The small things we saw first and what they actually meant.
Intro
Looking back, the signs were there early.
At the time, they did not seem like something serious. They were small, easy to question, and even easier to dismiss.
But those early signs were the beginning of everything.
This is what we noticed and what we wish we understood sooner.
The eye movements
The first thing we noticed was her eyes.
They were not still.
They moved in ways that did not feel normal, not just side to side, but in different directions.
At the time, we did not know this was called nystagmus, which is a condition involving involuntary eye movements.
In Alström syndrome, this is often one of the earliest signs, appearing in infancy due to underlying retinal dysfunction.
But back then, it was just a feeling.
Something is not right.
Sensitivity to light
Another thing we noticed was how uncomfortable she seemed in bright environments.
She would:
- Squint frequently
- Turn away from light
- Seem more settled in dim lighting
We later learned this is called photophobia, a strong sensitivity to light.
This happens because the retina, the light-sensing part of the eye, is not functioning properly.
Again, at the time, we questioned it.
Was it just normal baby behaviour?
Or something more?
Difficulty focusing
There were moments where we felt she was not fully focusing on objects or faces the way we expected.
It was not obvious.
It was not constant.
But it was enough to make us pause.
This can be linked to cone-rod dystrophy, where the cells responsible for processing light and detail begin to deteriorate early in life.
As parents, you notice these subtle things.
Even when you cannot explain them.
The uncertainty between normal and not normal
This was probably the hardest part.
Nothing felt extreme enough to panic.
But nothing felt normal enough to ignore.
We kept asking ourselves:
- Are we overthinking this?
- Do babies sometimes do this?
- Should we wait or act now?
That grey area is where most parents sit in the beginning.
What we did not know then
At the time, we did not know:
- These signs were connected
- They pointed to a retinal condition
- Or that they could be part of a rare genetic disorder
Alström syndrome often starts with vision-related symptoms in infancy, before other features appear later in life.
That is why it can be missed early on.
Because it does not look like a full condition yet.
What we would tell other parents
If you are reading this and something feels off, trust that feeling.
You do not need to have the answers.
But you do need to take the next step.
Get it checked.
Ask questions.
Push for clarity if something does not feel right.
Because early signs matter.
And early action can make a difference.
Key signs to be aware of
Here are the early signs we experienced:
- Unusual or constant eye movements (nystagmus)
- Sensitivity to light (photophobia)
- Difficulty focusing or tracking objects
- Subtle visual responses that feel off
Not every child will show all of these.
And not every child with these signs has Alström syndrome.
But these are signs worth paying attention to.