CNBC’s Becky Quick details daughter’s rare disease journey

I’ve spent the last 25 years in front of the camera here at CNBC, and people have gotten to know a lot about me.

What they don’t know, though, is probably the most important part: My family. And our family is a happy one. But we are also unique, and we have our struggles.

Our 9-year-old daughter Kaylie, our youngest child, has a rare genetic disease. Her journey and her battles have changed me in so many ways, all for the better.

Kaylie is a beautiful, happy, loving girl. Those who know us say she’s a mini-me. But I know she’s better than I’ve ever been. She is full of light and life and love. And she works harder every day than anyone I know.

Kaylie has SYNGAP1, which means she only produces half of the SynGAP protein needed for brain development. Like the other 1,700 or so people around the globe with the same diagnosis, that means she has seizures, developmental delays and intellectual disabilities. And like most other Syngapians, she has autism. Kaylie’s autism is severe.

She has apraxia, which means that even though she struggles to speak, she has very high receptive language and — I think — understands most of what is going on around her. Sometimes people assume that just because Kaylie can’t talk she doesn’t understand what they are saying. Sometimes they talk about Kaylie right in front of her. Sometimes it’s unkind. I’ve heard people call her retarded, spoiled, or undisciplined. They’ve said she’s too old to be in a stroller, which is where she can feel safest when we are out in the community. Or they’ve given us disapproving looks and said she shouldn’t be allowed to have so much screen time when we let her use an iPad at a restaurant or at her brother’s basketball games. I’ve heard all of that. And so has she.

Having SYNGAP1 and apraxia means that Kaylie often can’t control her body. It won’t do what she wants it to do, which, as you can imagine, is incredibly frustrating for her. Sometimes she acts out, but she’s been working with behavioral therapists for many years. She’s getting better at dealing with that.

A friend whose son had brain cancer took one look at the image of a Syngapian’s brain and said it looked just like the brain of a child who had received radiation for brain tumors. In a neurotypical brain, dendrites — the neural connections that transmit electrical impulses in a brain — look like neatly pruned trees, with clear, defined branches stemming out from a central trunk. People with SYNGAP1 have dendrites with fatter trunks and lots of branches. Those bold trunks of synapses, instead of the sleek connections most people have, mean that Kaylie can be overwhelmed by the flood of input coming her way. Sometimes she bites herself as a result as she tries to manage it all. Sometimes she bites me or her father. She doesn’t mean it. We know that. But it’s hard to process it and react with grace as it’s happening.

Moving forward after a diagnosis

When Kaylie was born, everything seemed perfect. She went full term, no problems in the pregnancy. She had 10 fingers and 10 toes. She was happy, all the time. She smiled at less than a month old. Some people said it must be gas, but it wasn’t. I took pictures on my cellphone when I held her smiling in my arms because I couldn’t believe it myself.

She nursed beautifully. She slept better than my son had. She was content and happy. She did tummy time. Everything seemed perfect.

But when she was around 7 months or so, I started to worry. She crossed her eyes too often. She wasn’t rolling over. And sometimes, she stared into space. It seemed like she was resetting like a computer on the fritz.

By 8 months, I was worried enough to seek help from therapists and doctors. They diagnosed her with global developmental delays. They worked with her. We hoped and prayed.

Kaylie made progress. It was just so slow relative to her peers, and to her cousins born within months of her. That made family functions tough to endure at times … to see how far she was falling behind her cousins, even though our extended family was our greatest support. It was a double-edged sword, and sometimes (often) I broke down at holiday events and family gatherings.

We consulted with a neurologist. She prescribed an EEG, which showed unusual brain activity and seizures. Kaylie started on a long and varied road of medications designed to control her seizures. Just before Kaylie turned 3, we got the results of a genetic test that showed Kaylie had SYNGAP1. The diagnosis was devastating, because we knew that even hard work, determination and years of…