Imagine your child is born with an ultra-rare genetic disease
— AGO syndrome.
So rare that there is no treatment. So new that it was first described just one year before our son’s diagnosis.
Albert is now six and a half years old.
He has never said “mama” or “dada.”
Though we wait with all our hearts, we know that with each passing day, the chances slip further away.
The disease is progressing. And there is no therapy.
Every day brings new challenges that current medicine cannot solve.
It began with unease — Albert wasn’t developing like his peers, and soon his younger siblings overtook him.
The first diagnosis — autism — came when he was just 13 months old.
We still believed that intensive therapy might be enough.
But the real blow came later: the diagnosis of AGO syndrome (a mutation in the Ago1 gene).
The world stopped.
This disease is caused by a mutation in a gene that leads to neurological disorders, epilepsy, motor delays, and traits of the autism spectrum.
It all fit.
Except for hope — nothing about it fit.
So we made a decision: we had to act.
We would develop a treatment for Albert and the other 60 children in the world with this condition.
Together, my husband and I are scientists — graduates of some of the world’s leading universities: Oxford, Cambridge, UCL, and Edinburgh.
We have the knowledge, the skills, and the plan.
We built an international team of researchers working with us to develop a therapy.
We know what needs to be done.
We know how to do it.
But we cannot do it alone.
Right now, everything depends on funding.
We’ve established a foundation that works globally — but drug development is extremely costly.
We must act now, and we need help.
Rare diseases include 10,000 different diagnoses.
Although 300 million people worldwide are affected — as many as have diabetes — for most, it’s still not “profitable” to develop a treatment.
But every breakthrough — like the one for SMA — paves the way for other rare diseases, like AGO syndrome, affecting just 60 children globally.
Thanks to private support, we’ve already created the first stem cells to study how drugs affect the Ago1 mutation that causes AGO syndrome.
Every day is a closing developmental window.
Every week is time Albert won’t get back.
Albert is a cheerful boy with blue eyes.
He loves songs, swings, and water.
He has younger siblings who show us each day how much he’s missing.
And he has parents who aren’t afraid to act.
Developing a treatment is his only chance.
Without it, Albert will never be independent.
He will never say, “Thank you, Mama.”
He will never play hide and seek with his siblings.
Help us give him that one chance.
Save his future.
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Organizer
Aldona Chmielewska
Organizer