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 with her parents, Matt and Becky.
Lori and Seth Horowitz, John Gomez
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.
Kaylie and her brother Kyle.
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.
Becky’s daughter Kaylie smiling as a baby.
Becky Quick
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 Quick with her dad (Matt), mom (Becky), and brother (Kyle).
Becky Quick
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 therapies wouldn’t be enough to “fix” all her symptoms. But it also brought us an understanding of what Kaylie was dealing with, a community of other families dealing with the same issues, and hope that we could eventually find a cure.
Kaylie loves spending time at the beach with her family.
Becky Quick
Working with dedicated therapists, doctors and teachers helped tremendously. Kaylie continues to make progress, and we have learned a lot about how to best try and help her. But we have a long, long way to go. And we are some of the luckiest ones. We have resources to pay for help and access to the best care and therapists. And doctors and companies call me back because of my public position.
Most people aren’t so lucky. And that’s a big part of the reason we feel like we have to speak up now.
It’s taken me years to get to this place, emotionally, to even be able to talk about it publicly. After Kaylie’s diagnosis, I shut off this part of my life and my brain while I was at work and on air on “Squawk Box,” just so I could function and do my job.
But more importantly, it’s taken this long for us to feel like we understand enough about rare diseases — the journey and what science is now making possible — to feel like we could make a difference by speaking out.
Kaylie with her sisters Natalie (center) and Kimi (right).
Becky Quick
Navigating the path together
Every family with a rare disease diagnosis has to navigate a complex path — trying to provide the best care possible for your child on a day-to-day basis, while also seeking desperately for a cure or a therapy to try and improve their long-term diagnosis. It’s a very lonely path, and even though there are more than 10,000 rare diseases, those in the communities impacted by them often feel like they’re walking it alone.
But the truth is, many of those diagnosed with one of those 10,000 rare diseases are walking similar paths. We’ve realized that “rare disease” isn’t really all that rare when it’s looked at collectively, much like cancer is today. And when you look at the 30 million Americans who are affected by rare disease — and what could be as many as 400 million people globally — you get a patient population that can be attractive to biotech and pharmaceutical companies. It also makes it appealing to investors who can help fund the search for cures. It’s a population in need of both legislative and regulatory attention, to make sure the unique challenges faced by people with rare diseases are addressed, and to help streamline the regulatory process for cures of “orphan” diseases.
And that’s where CNBC Cures comes in. CNBC has a unique audience with all of the constituencies that can make a huge difference in the path for rare disease. That is our goal with CNBC Cures: to bring together those constituencies, highlight what’s possible in science right now, identify roadblocks keeping that scientific progress from patients and move them out of the way as quickly as possible.
Because for patients with rare disease, time is the enemy.
Technological advances are taking place at a breakneck pace. Artificial intelligence is speeding the progress, and advances in gene therapy and ASO therapies are happening much faster than I believed possible just a couple of years ago.
Kaylie loves playing at the water park in the summer.
Becky Quick
But for patients and families with rare disease, the pace is never fast enough. Time slowly strips away the ability for some patients to breathe, or for their organs or muscles to function. And for those with chronic conditions, every year that passes without a cure closes the aperture on what quality of life is eventually possible.
And that’s why the time to act is now. Researchers and investors in this space will tell you the science has never been stronger. We have the ability to change millions of lives. Sign up for the CNBC Cures Newsletter. Attend the first-ever CNBC Cures Summit in March. Follow the stories we’ll bring you in the months ahead to see how you can make a difference. Because it’s a long journey for the millions of Americans impacted by rare diseases, and the path will be a lot less lonely if we all walk it together.
If you’d like to share your story, receive more information or discuss opportunities to get involved, please email us: cnbccures@response.cnbc.com. Someone from our team will be in touch with you soon.