The Unprofessional Guide to Simpson-Golabi-Behmel syndrome

Chapter 1: What Is Simpson-Golabi-Behmel syndrome, Really?

Important notice: This guide is for general informational and educational purposes only. It does not constitute medical advice, diagnosis, or treatment. Always consult a qualified healthcare professional before making any medical decisions. Never disregard or delay seeking professional medical advice because of something you read in this guide.

First things first: take a breath. If you're reading this, you (or someone you love) have just been handed a phrase that sounds like it belongs in a medical journal, not in your life. "Simpson-Golabi-Behmel syndrome." It's a lot of syllables. It's probably a lot of fear, too. Let's start by taking some of that fear down a peg, because right now, you need information, not panic. And that's exactly what this chapter is for.

So what is this thing, really? At its absolute simplest, Simpson-Golabi-Behmel syndrome (which we'll call SGBS from here on, because your mouth will thank you) is a rare genetic condition that affects how a person grows — both before they're born and for the rest of their life. The key word here is "grows." People with SGBS tend to grow more than usual, or faster than usual, starting from when they're just a tiny cluster of cells. It's a condition that involves what doctors call "overgrowth."

Now, "overgrowth" sounds almost benign, doesn't it? Like a plant you watered a bit too much. But at the cellular level, what's happening is that the body's instruction manual — the DNA that tells