CNBC's Becky Quick details her daughter's journey into rare diseases

I've spent the last 25 years in front of the camera here at CNBC and people have come to know a lot about me.

However, 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 daughter Kaylie, 9, our youngest child, has a rare genetic disease. Your journey and your battles have changed me in many ways, all for the better.

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 me. It 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 other 1,700 people around the world with the same diagnosis, that means he has seizures, developmental delays and intellectual disabilities. And like most of Syngap's inhabitants, he has autism. Kaylie's autism is severe.

He has apraxia, which means that although he has trouble speaking, he has very receptive language and, I believe, understands most of what is going on around him. Sometimes people assume that just because Kaylie can't talk that she doesn't understand what they're saying. Sometimes they talk about Kaylie right in front of her. Sometimes it's cruel. I've heard people call her retarded, spoiled, or undisciplined. They have said that she is too old to ride in a stroller, which is where she can feel safest when we are in the community. Or they've looked at us disapprovingly and said he shouldn't be allowed so much screen time when we let him use an iPad at a restaurant or at his brother's basketball games. I've heard all that. And so does she.

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

A friend whose son had brain cancer took a look at a picture of a Syngap citizen's brain and said it looked 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 the brain) look like carefully pruned trees, with clear, defined branches radiating from a central trunk. People with SYNGAP1 have dendrites with thicker trunks and many branches. Those bold trunks of synapses, rather than the elegant connections most people have, mean Kaylie can feel overwhelmed by the avalanche of information coming at her. Sometimes, as a result, she bites herself as she tries to handle it all. Sometimes he bites me or his father. She doesn't mean it. We know it. But it's hard to process it and react with grace while it's happening.

Moving forward after a diagnosis

When Kaylie was born, everything seemed perfect. She came to term, with no pregnancy problems. He had 10 fingers and 10 toes. She was happy all the time. She smiled when she was less than a month old. Some people said it must be gas, but it wasn't. I took pictures with my cell phone when I held her smiling in my arms because I couldn't believe it myself.

She breastfed wonderfully. She slept better than my son. I was content and happy. She spent tummy time. Everything seemed perfect.

But when he was about 7 months old, I started to worry. He crossed his eyes too often. She wasn't turning around. And sometimes he looked into space. It seemed like it was rebooting like a crashed computer.

At 8 months, he was worried enough to seek help from therapists and doctors. He was diagnosed with global developmental delays. They worked with her. We waited and prayed.

Kaylie made progress. She was very slow in relation to her peers and her cousins ​​born a few months after her. That made family functions difficult to endure at times…seeing how far he was falling behind his cousins, even though our extended family was our biggest support. It was a double-edged sword, and I would sometimes (often) break down at holiday events and family gatherings.

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

Working with dedicated therapists, doctors, and teachers was extremely helpful. Kaylie continues to make progress and we have learned a lot about how to best try to help her. But we still have a long way to go. And we are one of the luckiest. We have the 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 are not so lucky. And that's a big part of why we feel like we have to talk 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 turned off this part of my life and my brain while at work and on the air, just so I could function and do my job.

But most importantly, it has taken us so long to feel like we understand enough about rare diseases – the journey and what science is now making possible – to feel like we can make a difference by speaking out.

Every family with a rare disease diagnosis has to navigate a complex path: trying to provide the best care possible for their child on a day-to-day basis, while desperately searching for a cure or therapy to try to improve their diagnosis in the long term. It is a very lonely path and, although there are more than 10,000 rare diseases, those in the communities affected by them often feel like they are walking it alone.

But the truth is that many of those diagnosed with one of those 10,000 rare diseases are traveling similar paths. We have realized that “rare diseases” are actually not that rare when looked at together, like cancer is today. And when you look at the 30 million Americans affected by rare diseases (and what could be up to 400 million people worldwide), you have a patient population that may be attractive to biotech and pharmaceutical companies. It also makes it attractive to investors who can help fund the search for cures. It 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 “orphan” disease cures.

And that's where CNBC Cures comes in. CNBC has a unique audience with all the groups that can make a big difference in the path of rare diseases. That's our goal with CNBC Cures: to bring those groups together, highlight what's possible in science right now, identify obstacles that prevent scientific progress from reaching patients, and get them out of the way as quickly as possible.

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

Technological advances 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 thought possible just a couple of years ago.

But for patients and their families with rare diseases, the pace is never fast enough. Time slowly strips some patients of the ability to breathe or their organs or muscles to function. And for those with chronic illnesses, each year that passes without a cure closes the door on the quality of life that will eventually be possible.

And that is why now is the time to act. Researchers and investors in this space will tell you that the science has never been stronger. We have the ability to change millions of lives. Subscribe to the CNBC Cures newsletter. Attend the first CNBC Cures Summit in March. Follow the stories we'll be bringing you in the coming months to see how you can make a difference. Because it's a long journey for millions of Americans affected by rare diseases, and the road will be much less lonely if we all travel it together.