The Unprofessional Guide to autosomal recessive nonsyndromic deafness

Chapter 1: What Is autosomal recessive nonsyndromic deafness, 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.

Okay. Breathe.

You just received a diagnosis with a name that sounds like it was generated by a medical textbook having a stroke: autosomal recessive nonsyndromic deafness. It's a mouthful, it's terrifying, and you probably have a thousand questions already. The good news? You're reading this, which means you're ready to tackle this head-on. Let's take it apart, piece by piece, in plain language. You will understand this by the end of this chapter. I promise.

Let's start with the scariest word in the phrase first: deafness. It just means the loss of hearing, and in this case, it's not something that got damaged, like from a loud noise or an ear infection. It's something you were born with, on a genetic level. It's not your fault. Repeat that to yourself for a minute. It is not your fault.

Now, let's break down the phrase word by word, like we're pulling apart an onion, except this onion won't make you cry.

Autosomal refers to your chromosomes. Think of chromosomes as the instruction manual for making you. You have 46 of them, in 23 pairs. You get one set of 23 from