# About

My name is Sean. I have a confirmed PRRT2 gene mutation — discovered later in life after decades of searching for answers.

If you search PRRT2 online today, you'll find brief clinical descriptions focused almost entirely on infants and young children. What you won't find is the reality that many of us lived with undiagnosed PRRT2 for years, even decades — collecting misdiagnoses, trying medications that didn't fit, and being treated for symptoms that nobody ever connected to a single cause.

PRRT2 isn't only a childhood condition. Many adults live with active symptoms that were never correctly diagnosed. Many more carry the mutation without ever being tested. The people living with it deserve more than a one-paragraph summary written for pediatric neurologists.

## A Wide Spectrum

PRRT2 presents across a wide spectrum. Some people experience seizure-like episodes. Others live with movement disorders, voice changes, tics, or paroxysmal events that defy easy categorization. Many receive multiple diagnoses across multiple specialties before anyone connects the dots.

This group exists to help close that gap. Some carriers never develop symptoms at all. For those who do, presentations range from mild and infrequent to more complex. Wherever you fall on that spectrum — you belong here.

## One Gene, One Mechanism

Across all of these presentations — one gene. One mechanism. One community that deserves real answers.

> ***PRRT2 is a small protein that acts as a brake on voltage-gated sodium channels throughout the nervous system. When one copy of that gene is silenced — which is what happens in most of us — those channels run without adequate regulation. Every symptom traces back to that single mechanism.***

I started this Alliance because patients and families deserve more than what currently exists — real science explained in plain language, and a community that understands what this condition actually does to a life.

## What the PRRT2 Gene Alliance Exists to Do

* 🔬 **Translate research** into language that actually makes sense.
* 🧬 **Connect patients, families, and caregivers** worldwide.
* 🧪 **Advocate for accessible genetic testing** — because most people with PRRT2 don't know they have it yet.
* 📋 **Build a patient registry** to accelerate research.
* 💬 **Create a space** where your questions get real answers.
* ❤️ **Talk honestly** about what this condition does to a life — the visible struggles and the invisible ones nobody sees.
* 🏛️ **Eventually fund research directly** — the PRRT2.org Foundation.

## You Belong Here

Living with PRRT2 isn't just a scientific problem. It's missed opportunities, misdiagnoses that followed you for years, relationships affected, and careers shaped around symptoms people couldn't explain or see.

We will cover the science here — but we will never leave out the human side of what this gene does to a real life.

{% hint style="info" %}
If you were told your symptoms are unrelated, unexplained, or untestable — this group is especially for you. A simple genetic test can change everything.
{% endhint %}

Whether you have PKD, BFIS, dystonia, epilepsy, dysphonia, PED, or you're newly diagnosed and overwhelmed — you belong here.

This group is just starting. The website is coming. The registry is coming. The research partnerships are coming. But it starts with us finding each other.

Join the PRRT2 Gene Alliance Facebook group, introduce yourself, and tell us your diagnosis, your country, and your biggest unanswered question. Let's start mapping this condition together.

[**Join the PRRT2 Gene Alliance Facebook Group →**](https://facebook.com/groups/prrt2)

***

— **Sean**\
Founder, PRRT2 Gene Alliance\
[prrt2.org](https://prrt2.org)


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