CNBC’s Becky Quick details her daughter’s journey with rare diseases
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 have our problems.
Our 9-year-old daughter Kaylie, our youngest child, suffers from a rare genetic disorder. Her journey and struggles have changed me for the better in many ways.
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 is a mini-me. But I know she’s better than ever. She is full of light and life and love. And she works harder every day than anyone I know.
Kaylie has SYNGAP1, meaning she only produces half of the SynGAP protein needed for brain development. Like the other 1,700 or so people around the world 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 suffers from apraxia, which means that although she has difficulty speaking, she has very receptive language and – I believe – understands most of what is happening around her. Sometimes people assume that just because Kaylie can’t speak, she doesn’t understand what they’re saying. Sometimes they talk about Kaylie right in front of her. Sometimes it’s unfriendly. I’ve heard people call her retarded, spoiled, or undisciplined. They said she was too old for a stroller. That’s where she can feel safest when we’re out and about in the community. Or they would give us disapproving looks and say she couldn’t have so much screen time if we allowed her to use an iPad at a restaurant or at her brother’s basketball games. I’ve heard all that. And she has that too.
Kaylie and her brother Kyle.
Due to SYNGAP1 and apraxia, Kaylie often cannot control her body. It doesn’t do what she wants, which, as you can imagine, is incredibly frustrating for her. Sometimes she acts out, but she has been working with behavioral therapists for many years. She’s getting better and better at it.
A friend whose son suffered from brain cancer took one look at a picture of a Syngapian’s brain and said it looked exactly like the brain of a child who had been irradiated for brain cancer. In a neurotypical brain, dendrites—the neural connections that transmit electrical impulses in a brain—look like neatly trimmed trees, with clear, defined branches radiating from a central trunk. People with SYNGAP1 have dendrites with thicker trunks and many branches. These bold synaptic trunks instead of the slender connections that most people have mean that Kaylie can be overwhelmed by the flood of input coming her way. That’s why she sometimes bites herself while trying to juggle everything. Sometimes she bites me or her father. She doesn’t mean it like that. We know that. But it’s hard to process it and respond appropriately when it happens.
After a diagnosis, things move on
When Kaylie was born, everything seemed perfect. She survived the full term, no problems during pregnancy. She had 10 fingers and 10 toes. She was happy all the time. She smiled when she was not even a month old. Some people said it had to be gas, but that wasn’t the case. I took a photo of her with my phone as I held her in my arms, smiling, because I couldn’t believe it myself.
Becky’s daughter Kaylie smiles like a baby.
Becky Quick
She breastfed wonderfully. She slept better than my son. She was content and happy. She did tummy time. Everything seemed perfect.
But when she was about 7 months old, I started to worry. She crossed her eyes too often. She didn’t turn around. And sometimes she stared into space. It seemed like it was resetting like a computer on the Fritz.
At 8 months old, I was so worried that I sought help from therapists and doctors. They diagnosed her 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 made progress. It was just so slow compared to her peers and to her cousins who were born just a few months after her. That made family gatherings hard to bear at times…seeing how far behind her cousins she fell, even though our extended family was our biggest support. It was a double-edged sword, and sometimes (often) I would break down at holiday events and family gatherings.
We consulted a neurologist. She ordered an EEG, which showed unusual brain activity and seizures. Kaylie began a long and varied journey with medication to control her seizures. Just before Kaylie turned three, we received 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 therapy would not be enough to “fix” all of her symptoms. But it also brought us an understanding of what Kaylie was struggling with, a community of other families struggling with the same issues, and our 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 has helped enormously. Kaylie continues to make progress and we have learned a lot about how best to help her. But we still have a long, long way to go. And we are among the luckiest. We have the resources to fund help and access to the best care and therapists. And doctors and companies are calling me back because of my public position.
Most people aren’t that lucky. And that’s one of the main reasons why we feel like we need to speak up now.
It took me years to get to this point emotionally and even be able to talk about it publicly. After Kaylie’s diagnosis, I shut down that part of my life and my brain while I was at work and on TV just so I could function and do my job.
But more importantly, it took us so long to feel like we understood enough about rare diseases – the journey and what science is now making possible – to feel like we could make a difference by speaking up.
Kaylie with her sisters Natalie (center) and Kimi (right).
Becky Quick
Walk the path together
Every family diagnosed with a rare disease must navigate a complex journey – trying to provide the best possible care for their child in everyday life, while simultaneously desperately searching for a cure or therapy to improve their long-term diagnosis. It is a very lonely journey, and although there are more than 10,000 rare diseases, people in affected communities often feel like they are walking it alone.
But the truth is that many of those diagnosed with one of these 10,000 rare diseases follow a similar path. We have recognized that, when viewed collectively, “rare diseases” are not as rare as cancer is today. And when you look at the 30 million Americans affected by rare diseases — and there could be as many as 400 million people worldwide — it’s a patient population that can be attractive to biotech and pharmaceutical companies. This also makes it attractive to investors who can finance the search for cures. It is a population that requires 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 curing “rare” diseases.
And this is where CNBC Cures comes into play. CNBC has a unique audience with all stakeholders who can make a big difference in the path to treating rare diseases. That’s our goal with CNBC Cures: to bring these audiences together, highlight what’s currently possible in science, identify barriers that are holding back scientific progress for patients, and remove them as quickly as possible.
Because for patients with rare diseases, time is the enemy.
Technological progress is occurring at breakneck speed. Artificial intelligence is accelerating progress, and advances in gene therapy and ASO therapies are happening much faster than I would have thought possible just a few years ago.
Kaylie loves playing at the water park in the summer.
Becky Quick
But for rare disease patients and families, the pace is never fast enough. Over time, some patients slowly lose the ability to breathe or their organs or muscles stop functioning. And for people with chronic illnesses, every year that goes by without healing closes the chance of ultimately achieving a possible quality of life.
And that’s why now is the time to act. Researchers and investors in the field will tell you that science has never been stronger. We have the ability to change millions of lives. Sign up for the CNBC Cures newsletter. Join us in March for the first-ever CNBC Cures Summit. Follow the stories we’ll bring to you in the coming months to learn how you can make a difference. Because it’s a long road for the millions of Americans affected by rare diseases, and the road will be much less lonely if we all walk it together.
