The First Year After Diagnosis
What life really looked like after we were told it was Alström syndrome.
Intro
Nothing prepares you for what comes after diagnosis.
You spend so much time searching for answers and when you finally get one, you think things will become clearer.
But in reality, the first year is filled with more questions, more appointments, and a completely new way of living.
This is what our first year looked like.
The first few weeks
After the diagnosis of Alström syndrome, everything changed overnight.
We went from being regular parents to suddenly navigating a world of:
- Specialists
- Medical terms
- Ongoing monitoring
- Uncertainty about the future
It felt like we were expected to understand everything immediately.
But the truth was we did not.
We were still trying to process what progressive genetic condition really meant.
Living between appointments
Very quickly, life became centred around medical care.
We were attending regular visits at Royal Children’s Hospital, meeting different specialists, and trying to keep up with recommendations.
There were:
- Eye specialists (ophthalmology)
- Genetic specialists
- Paediatricians
- Additional testing and monitoring
Each appointment brought new information, but not always clear answers.
Alström syndrome affects multiple systems in the body, which means care becomes multidisciplinary and ongoing.
For us, it felt like we were always waiting for the next update.
Understanding what was happening
One of the hardest parts was understanding the condition itself.
We learned that Alström syndrome is:
- A genetic condition caused by changes in the ALMS1 gene
- A disorder that affects how cells function, especially structures called cilia
- A condition that can impact vision, hearing, heart, metabolism, and more over time
But knowing this did not make it easier.
Because no one could tell us exactly:
- What would happen next
- How fast things would progress
- What our daughter’s future would look like
Every child is different, and the condition varies from person to person.
That uncertainty is something we had to learn to live with.
Watching for changes
During that first year, we became extremely aware of every small change.
We were constantly asking ourselves:
- Is her vision getting worse?
- Is she reacting differently to light?
- Is this normal, or is this part of the condition?
We already knew that vision issues like nystagmus, photophobia, and retinal dysfunction are often some of the earliest signs of Alström syndrome.
So naturally, that became our main focus.
Every reaction mattered.
Every behaviour meant something.
The emotional side
This part is hard to explain unless you have lived it.
You are:
- Grateful for your child
- Trying to stay strong
- But quietly grieving the future you thought they would have
There is a constant balance between:
Hope and fear.
Strength and exhaustion.
Acceptance and denial.
Some days felt normal.
Other days felt overwhelming.
Adjusting to a new normal
Over time, we slowly started to adjust.
Not because things became easier, but because we began to understand how to live with it.
We learned to:
- Take things one step at a time
- Focus on what we can control
- Appreciate the present moment more than ever
We stopped trying to predict the future.
And started focusing on today.
What we learned in that first year
Looking back, the first year taught us more than anything else.
- You do not need all the answers right away
- It is okay to feel lost
- You will learn as you go
- And you are stronger than you think
Most importantly:
You are not alone in this journey.