CNBC’s Becky Quezek details her daughter’s journey with a rare illness

I’ve spent the last 25 years in front of the camera at CNBC and people have learned a lot about me.

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

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

Kaylee is a beautiful, happy, loving girl. Those who know us call him mini-man. But I know it’s better than ever. It is full of light and life and love. And he works harder every day than anyone I know.

Caylee has SYNGAP1, which means she only makes half of the SynGAP protein needed for brain development. Like nearly 1,700 people worldwide with the same diagnosis, it means he suffers from seizures, developmental delays and mental retardation. Like other Singaporeans, he is autistic. Kaylee has severe autism.

He has apraxia, which means that even though he struggles to speak, his receptive language is very high and I think he understands most of what is going on around him. Sometimes people think Kaylee doesn’t understand what they’re saying because she can’t speak. Sometimes they talk about Kaylee in front of him. Sometimes it’s cruel. I’ve heard it called retarded, broken, or unruly. They said he was too old to be in a wheelchair so he could feel safe when we were out in the community. Or they pretended not to like us and told us not to allow him too much screen time when we let him use the iPad at a restaurant or at his brother’s basketball games. I’ve heard it all. So is he.

Having SYNGAP1 and apraxia means Kaylee often has a loss of control over her body. It doesn’t do what he wants, which, as you can imagine, makes him very upset. Sometimes he acts out, but he has been working with behavioral therapists for years. It makes it better to deal with it.

A friend whose child had brain cancer took one look at the image of the Singaporean brain and said it looked like the brain of a child who had received radiation for a brain tumor. In a neurotypical brain, dendrites—neuron connections that carry electrical impulses in the brain—look like neatly trimmed trees with clear, distinct branches radiating from a central trunk. People with SYNGAP1 have dendrites with fat trunks and many branches. Those bold shafts of synapses mean that instead of the graceful connections that most people have, Caylee can be overwhelmed by the flood of input that comes her way. Sometimes he bites himself trying to manage it all. Sometimes he bites me or his father. He doesn’t mean it. We know that. But it’s hard to process it and act with grace while it’s happening.

Moving forward after diagnosis

When Kaylee was born, everything seemed perfect. She came to full term, there are no problems with the pregnancy. He had 10 fingers and 10 toes. He was always happy. He smiled in less than a month. Some have said it must be gas, but it isn’t. I couldn’t believe it myself, so I took a picture of him smiling in his arms on my cell phone.

She nursed beautifully. He slept better than my son. He was satisfied and happy. He did stomach time. Everything seemed perfect.

But when he was about seven months old, I started to worry. He crossed his eyes too often. It is not rotating. Sometimes he looked into space. It looked like it was recovering 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 delay. They worked with him. We hoped and prayed.

Kaylee moved forward. It was very slow relative to his peers and cousins ​​born within a few months of him. It makes family functions difficult to cope with sometimes… to see how far behind her cousins ​​are, even though our extended family is our biggest support. It was a double-edged sword, sometimes (often) I broke down at festive events and family gatherings.

We consulted a neurologist. He ordered an EEG, which showed abnormal brain activity and seizures. Caylee began a long and varied journey of medication to control her seizures. Before Kaylee turned 3, we received genetic test results that showed Kaylee had SYNGAP1. The diagnosis was painful because we knew that even hard work, persistence and years of treatment would not be enough to “fix” all of her symptoms. But it gave us an idea of ​​what Kaylee was dealing with, a community of other families dealing with the same issues, and hopefully we can eventually find a cure.

Working with special therapists, doctors, and teachers helped a lot. Kaylee continues to make progress and we have learned a lot about how we can help her. But we have a long, long way to go. And we are among the happiest people. We have the resources to pay for care and access the best care and therapists. And doctors and companies call me back because of my government position.

Most people are not so lucky. That’s a big part of why we feel like we need to speak up now.

It took me years to get to this place emotionally, to even be able to talk about it publicly. After Kaylee’s diagnosis, I turned that part of my life and my brain off when I was at work and on the air so I could work and do my job.

But more importantly, it took a long time for us to feel like we understood enough about rare diseases—travel and what science now makes possible. make a difference by telling.

Every family diagnosed with a rare disease must navigate a difficult path – trying to provide the best day-to-day care for their child while seeking treatment or therapy to improve the long-term prognosis. It’s a very lonely road, and even though there are over 10,000 rare diseases, the communities affected by them often feel like they’re walking it alone.

But the truth is, most people diagnosed with one of those 10,000 rare diseases follow a similar path. We have come to realize that a “rare disease” is generally not as rare as cancer is today. When you look at the 30 million Americans who suffer from a rare disease — and possibly as many as 400 million worldwide — you get a patient population that could be attractive to biotech and pharmaceutical companies. It also attracts investors who help fund the search for a cure. This is a population that requires legislative and regulatory attention to help address the unique challenges of people with rare diseases and to streamline the regulatory process for the treatment of “orphan” diseases.

And that’s where CNBC Cures comes in. CNBC has a unique audience with all constituencies that can make a big difference on the path to rare diseases. That’s our goal at CNBC Cures: to bring those constituencies together, to show what’s possible in science right now, to identify the barriers that keep this scientific progress from patients, and to remove them as soon as possible.

Because time is not good for patients with rare diseases.

The pace of technological progress is high. Artificial intelligence is accelerating progress, and advances in gene therapy and ASO therapy are happening much faster than I thought possible just a few years ago.

But for rare disease patients and families, the pace is never fast enough. Time slowly robs some patients of their ability to breathe or function of their organs and muscles. For people with chronic diseases, each year without treatment closes the picture of what quality of life can be like.

That’s why it’s time to act. Researchers and investors in this space will tell you the science has never been stronger. We have the power to change millions of lives. register for CNBC Cres Newsletter. Attend the first one CNBC Healing Summit in March. Keep an eye on the stories we bring to you in the coming months to see 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 a lot lonelier if we all walk it together.