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 learned a lot about me.

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

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

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

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

He has apraxia, which means that although he has difficulty speaking, he has a very high level of receptive language and – I think – understands most of what is going on around him. Sometimes people assume that because Kaylie can’t talk, she doesn’t understand what they’re saying. Sometimes they talk about Kaylie in front of him. Sometimes he is unkind. I’ve heard people call him retarded, spoiled, or undisciplined. They said he was too old to ride in a stroller, which is where he would feel safest when out in public. Or they gave us disapproving looks and told us she shouldn’t be allowed to spend so much screen time when we let her use an iPad at a restaurant or at her brother’s basketball games. I’ve heard it all. So is he.

Having SYNGAP1 and apraxia means Kaylie often cannot control her body. He won’t do what he wants to do, and as you can imagine, this is incredibly frustrating for him. He sometimes acts out, but he has been working with behavioral therapists for years. He’s getting better at dealing with it.

A friend whose son had brain cancer looked at an image of Syngapian’s brain and said it looked like the brain of a child who had received radiation for a brain tumor. In a neurotypical brain, dendrites, the nerve connections that conduct electrical impulses in the brain, resemble neatly pruned trees with clear, defined branches emerging from a central trunk. People with SYNGAP1 have dendrites with thicker stems and many branches. Instead of the sleek connections most people have, these bold synapse trunks mean Kaylie can be overwhelmed by the flood of input coming her way. Sometimes he ends up biting himself as he tries to handle everything. Sometimes he bites me or his father. He didn’t mean it like that. We know this. But it’s hard to process this and react with grace while it’s happening.

Moving forward after diagnosis

When Kaylie was born, everything seemed perfect. She completed her period and there were no problems with the pregnancy. He had 10 fingers and 10 toes. He was always happy. He smiled in less than a month. Some said it was supposed to be gas, but it wasn’t. I couldn’t believe it so I took a photo with my cell phone of her smiling in my arms.

She breastfed very well. He slept better than my son. He was satisfied and happy. He did abdominal exercises. Everything looked perfect.

But when I was about seven months old, I started to worry. He looked away very often. He wasn’t returning. Sometimes he stared into space. It was like it was resetting like a computer on the fritz.

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

Kaylie has made progress. This was very slow compared to his peers and his cousins ​​who were born a few months later. This made family functions difficult to bear at times… Seeing how far behind his cousins ​​he was, even though our extended family was our greatest support. It was a double-edged sword, and I sometimes (often) broke down at holiday events and family gatherings.

We consulted a neurologist. He prescribed an EEG, which showed unusual brain activity and seizures. Kaylie began a long course of various medications designed to control her seizures. Just before Kaylie turned 3, we received the results of genetic testing showing that Kaylie had SYNGAP1. The diagnosis was devastating because we knew that even hard work, determination, and years of therapy would not be enough to “fix” all of her symptoms. But it also gave us insight into what Kaylie was dealing with, a community of other families dealing with the same issues, and hope that we might eventually find a cure.

Working with dedicated therapists, doctors, and teachers was very helpful. Kaylie continues to make progress and we have learned a lot about how to best help her. But we have a long way to go. And we are some of the luckiest ones. We have the resources to pay for help and access to the best care and therapists. Because of my public status, doctors and companies call me back.

Most people aren’t that lucky. And that’s a big reason why we feel we need to talk now.

It took me years to get to this place emotionally, to even be able to talk about it publicly. Following Kaylie’s diagnosis, I shut down that part of my life and my brain while I was at work and on the air so I could keep my job and do my job.

But more importantly, it has taken us this long to feel like we know enough about rare diseases – things that the journey and science have now made possible. make a difference speaking openly.

Every family diagnosed with a rare disease must navigate a complex path; While trying to provide the best possible care for your child on a daily basis, they are also desperately seeking a treatment or therapy to improve their long-term diagnosis. It’s a very lonely road, and even though there are more than 10,000 rare diseases, those living in communities affected by them often feel like they’re walking it alone.

But the reality is that most of those diagnosed with one of these 10,000 rare diseases walk similar paths. We realized that collectively, a “rare disease” was not actually that rare, like cancer today. When you look at the 30 million Americans (and there may be as many as 400 million people worldwide) affected by rare diseases, you get a patient population that could be attractive to biotech and pharmaceutical companies. It also makes it attractive to investors who could help fund the search for a cure. A population that needs both legislative and regulatory attention to ensure that the unique challenges faced by people with rare diseases are addressed and to help streamline the regulatory process for treating “orphan” diseases.

This is where CNBC Cures comes into play. CNBC has a unique audience of all constituencies that can make a big difference on the path to rare diseases. That’s our goal with CNBC Cures: to bring these constituencies together, highlight what’s possible in science right now, identify the barriers that keep scientific progress away from patients, and get them out of the way as quickly as possible.

Because for patients with rare diseases, time is the enemy.

Technological developments are occurring at a dizzying pace. Artificial intelligence is accelerating progress, and advances in gene therapy and ASO therapies are occurring much faster than I believed possible a few years ago.

But for rare disease patients and their families, the pace is never fast enough. Time gradually eliminates some patients’ ability to breathe or their organs or muscles to work. And for those with chronic conditions, each year that passes without treatment closes the gap on what quality of life is ultimately possible.

That’s why now is the time to act. Researchers and investors in this field will tell you that the science has never been stronger. We have the power to change millions of lives. Sign up CNBC Improves Its Newsletter. Join for the first time in history CNBC Treatment Summit In March. Follow the stories we bring to you in the coming months to see how you can make a difference. Because this is a long journey for the millions of Americans affected by rare diseases, and it will be a lot less lonely if we all walk it together.