From Diagnosis to Advocacy — Our Journey with Charlotte
GRIN Awareness Month – March
When Charlotte was born in February 2008, I did not know that one day I would be writing about rare genetic disorders, international collaboration, and research advocacy. I simply knew I was her mother and I loved her with all my heart.
By the time Charlotte was three years old, we knew she had a developmental delay. The milestones were not just “a bit late.” They were significantly delayed. Her speech, her motor development, her understanding of the world — everything unfolded at a different pace. We started therapies early and built our lives around appointments, exercises, and small, hard-earned steps forward.
But knowing something is different is not the same as knowing why.
For years, we lived without answers. Test after test. Referrals. Evaluations. Waiting. Explaining her story again and again. The uncertainty was exhausting.
In 2015, we finally received a diagnosis: a de novo loss-of-function variant in the GRIN2B gene.
After years of searching, we had a name.
And yet — there were still no answers at all.
There was almost no information available. Hardly any research. Very few specialists who had heard of GRIN2B. We were told about NMDA receptors and how this gene plays a crucial role in brain development and learning. We were told Charlotte’s variant caused reduced receptor function. But what did that mean for her future? What could we expect? What could we do?
Silence.
The loneliness after diagnosis was overwhelming. A rare disease can feel incredibly isolating — not because you are alone in loving your child, but because you cannot find others who truly understand the road you are walking.
Everything changed in 2018.
That year, we attended the very first European GRIN(2B) Conference in Barcelona. For the first time, we sat in a room filled with families who shared our reality. Children who reminded us of Charlotte. Parents who spoke our fears out loud. Researchers who were beginning to connect the scientific dots.
For the first time, we felt seen.
Out of that connection, something powerful emerged. Together with six other GRIN parents from Spain, France, Denmark and Norway, Nino and I co-founded GRIN Europe. We did it because we did not want other families to experience the same isolation and confusion we had faced.
Our goal was simple but urgent:
To make it easier for parents to navigate this journey.
To connect families across borders.
To raise awareness.
And to help drive research into GRIN disorders so that a diagnosis would no longer be followed by “no answers.”
Alongside this, we also built an informal Dutch parent community, GRIN in Nederland, so families in our own country could find each other more easily and share information and support close to home.
Charlotte is 18 now.
Eighteen. Officially an adult.
That milestone fills me with immense pride. She has worked so hard in her own way, at her own pace. She still functions cognitively much younger than her age and needs daily support. She loves horses, music, dogs, cooking together, dressing up, eating out, shopping and watching her favorite movies. She lives with a sincerity and joy that is beautifully pure.
But turning eighteen also brings new realities.
Adulthood means systems change. Support structures shift. The future — once something distant — now feels very close. Questions about long-term care, independence, safety, and quality of life are no longer abstract. They are real, and they are urgent.
Pride and worry now live side by side in my heart.
GRIN Awareness Month is about exactly this space we inhabit — between hope and uncertainty, between today’s challenges and tomorrow’s possibilities.
Because the landscape is changing.
Organizations like Cure GRIN, the GRIN2B Foundation, and GRIN Europe are working alongside researchers, clinicians, and families to accelerate understanding and treatment development. What once felt like silence is slowly becoming collaboration. What once felt impossible is becoming research protocols, conferences, and clinical conversations.
Charlotte’s diagnosis once marked the beginning of isolation.
Today, it marks the beginning of advocacy.
Rare does not mean invisible.
Rare does not mean without value.
And rare should never mean without answers.
For Charlotte.
For every child with a GRIN variant.
For every adult with a GRIN variant growing into a future we are still building together.
This March, during GRIN Awareness Month, we stand together — as families, as researchers, as a global community — determined to turn knowledge into progress and progress into hope.
Nino and I will continue to walk beside our daughter, not only as her parents, but as her voice and as fierce advocates for her and for all the GRIN children like her.
