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I’ve spent the last 25 years in front of the camera here at CNBC, and people have learned a lot about me.
What they don’t know, however, is probably the most important part: my family. And our family is happy. But we are also unique and we have our struggles.
Our daughter Kaylie, 9, our youngest child, has a rare genetic disorder. His journey and struggles have changed me in many ways, for the better.
Kaylie with her parents, Matt and Becky.
Lori and Seth Horowitz, John Gomez
Kaylie is a beautiful, happy and loving girl. Those who know us say she’s a mini-me. But I know she’s better than I ever was. She is full of light, 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 approximately 1,700 other people around the world with the same diagnosis, that means she suffers from seizures, developmental delays and intellectual disabilities. And like most other Syngapiens, she is autistic. Kaylie’s autism is severe.
She has apraxia, which means that although she has difficulty speaking, she has very receptive language and, I think, understands most of what is going on around her. Sometimes people assume that because Kaylie can’t speak, she doesn’t understand what they are saying. Sometimes they talk about Kaylie right in front of her. Sometimes it’s mean. I’ve heard people call her backward, spoiled, or undisciplined. They said she was too old to be in a stroller because that’s where she can feel safest when we’re out in the community. Or they gave us disapproving looks and said she shouldn’t be allowed to spend so much time in front of a screen when we let her use an iPad at the restaurant or at her brother’s basketball games. I heard all this. And so does she.
Kaylie and her brother Kyle.
Having SYNGAP1 and apraxia means Kaylie often can’t control her body. He won’t do what she wants, which, as you can imagine, is incredibly frustrating for her. Sometimes she acts out, but she has worked with behavioral therapists for many years. She’s getting better at handling this.
A friend whose son was suffering from brain cancer took a look at the image of a Syngapian’s brain and said it looked exactly like the brain of a child who had received radiation treatment for brain tumors. In a neurotypical brain, dendrites – the neuronal connections that transmit electrical impulses in the brain – look like well-pruned trees, with clear, defined branches emerging from a central trunk. People with SYNGAP1 have dendrites with larger trunks and many branches. These bold trunks of synapses, instead of the elegant connections most people have, mean that Kaylie can be overwhelmed by the flood of information coming at her. Sometimes she bites herself as she tries to deal with everything. Sometimes she bites me or her father. She doesn’t think so. We know it. But it’s hard to deal with this and respond gracefully when it happens.
Moving forward after a diagnosis
When Kaylie was born, everything seemed perfect. She came to term, no problems during pregnancy. She had 10 fingers and 10 toes. She was happy all the time. She was smiling at less than a month old. Some people said it must be gas, but it wasn’t. I took pictures with my cell phone of me holding her smiling because I couldn’t believe it myself.
Kaylie, Becky’s daughter, smiles like a baby.
Becky Rapide
She breastfed beautifully. She slept better than my son. She was content and happy. She did some tummy time. Everything seemed perfect.
But when I was about 7 months old, I started to worry. She squinted her eyes too often. She didn’t turn around. And sometimes she stared into space. It looked like it was resetting itself like a broken computer.
At 8 months, I was worried enough to seek help from therapists and doctors. They diagnosed him with global developmental delays. They worked with her. We hoped and prayed.
Kaylie Quick with her father (Matt), mother (Becky) and brother (Kyle).
Becky Quick
Kaylie has made progress. It was so slow compared to her peers and cousins born a few months after her. This made family functions difficult to bear at times…seeing how far she fell behind her cousins, even though our extended family was our biggest support. It was a double-edged sword, and sometimes (often) I would break down during holiday events and family gatherings.
We consulted a neurologist. She prescribed an EEG, which showed unusual brain activity and seizures. Kaylie began a long and varied course of medications designed to control her seizures. Just before Kaylie turned 3, we received the results of a genetic test which showed 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 “cure” all of his symptoms. But it also gave us an understanding of what Kaylie, a community of other families facing the same issues, was facing, and hope that we might eventually find a cure.
Kaylie loves spending time at the beach with her family.
Becky Quick
Working with dedicated therapists, doctors and teachers has helped me immensely. Kaylie continues to progress and we have learned a lot about how to best help her. But we have a very long way to go. And we are among the luckiest. We have the resources to pay for help and access 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 why we feel like we need to speak out now.
It took me years to get to this point, emotionally, to be able to talk about it publicly. After Kaylie’s diagnosis, I shut off that part of my life and my brain while I was at work and on air for “Squawk Box,” just so I could function and do my job.
But more importantly, it has taken us this long to feel that we understand rare diseases enough – their journey and what science now makes possible – to feel that we could make a difference by speaking.
Kaylie with her sisters Natalie (center) and Kimi (right).
Becky Quick
Walk the path together
Every family diagnosed with a rare disease faces a complex journey: trying to provide the best possible care for your child on a daily basis, while desperately seeking a cure or therapy to try to improve their diagnosis in the long term. It’s a very lonely path, and even though there are more than 10,000 rare diseases, people in affected communities often feel like they’re walking it alone.
But the truth is that many of the people diagnosed with one of these 10,000 rare diseases follow similar paths. We realized that “rare diseases” are not really that rare when considered collectively, just like cancer is today. And when you consider the 30 million Americans affected by a rare disease – and what could be as many as 400 million people worldwide – you get a patient population that can be attractive to biotech and pharmaceutical companies. This also makes it attractive to investors who can help fund research into cures. This is 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 cures for “orphan” diseases.
And that’s where CNBC Cures comes in. CNBC has a unique audience made up of all the groups that can make a huge difference in the fight against rare diseases. That’s our goal with CNBC Cures: to bring these groups together, highlight what’s possible in science today, identify the barriers that prevent patients from making scientific progress, and move them aside as quickly as possible.
Because for patients with a rare disease, time is the enemy.
Technological advancements are occurring at a breakneck pace. Artificial intelligence is accelerating progress, and advances in gene therapy and ASO therapies are happening much faster than I thought possible just a few years ago.
Kaylie loves playing at the water park in the summer.
Becky Quick
But for patients and families living with a rare disease, the pace can never be fast enough. Time gradually robs some patients of the ability to breathe or the ability of their organs or muscles to function. And for those who suffer from chronic illnesses, each year that passes without a cure closes the door to the quality of life that is ultimately possible.
And that’s why it’s time to act now. Researchers and investors in this field will tell you that the science has never been stronger. We have the capacity to change millions of lives. Register at CNBC Cures Newsletter. Attend the very first CNBC Healing Summit in March. Follow the stories we bring to you in the coming months to see how you can make a difference. Because it’s a long journey for the millions of Americans affected by rare diseases, and the path will be much less lonely if we all travel it together.
If you would like to share your story, receive more information, or discuss opportunities to get involved, please email us: cnbccures@response.cnbc.com. A member of our team will contact you shortly.
