CNBC's Becky Quick details daughter's rare disease journey

Kaylie is simply a beautiful, happy, loving girl. Those who cognize america accidental she's a mini-me. But I cognize she's amended than I've ever been. She is afloat of airy and beingness and love. And she works harder each time than anyone I know.

Kaylie has SYNGAP1, which means she lone produces fractional of the SynGAP macromolecule needed for encephalon development. Like the different 1,700 oregon truthful radical astir the globe with the aforesaid diagnosis, that means she has seizures, developmental delays and intelligence disabilities. And similar astir different Syngapians, she has autism. Kaylie's autism is severe.

Having SYNGAP1 and apraxia means that Kaylie often can't power her body. It won't bash what she wants it to do, which, arsenic you tin imagine, is incredibly frustrating for her. Sometimes she acts out, but she's been moving with behavioral therapists for galore years. She's getting amended astatine dealing with that.

A person whose lad had encephalon crab took 1 look astatine the representation of a Syngapian's encephalon and said it looked conscionable similar the encephalon of a kid who had received radiation for encephalon tumors. In a neurotypical brain, dendrites — the neural connections that transmit electrical impulses successful a encephalon — look similar neatly pruned trees, with clear, defined branches stemming retired from a cardinal trunk. People with SYNGAP1 person dendrites with fatter trunks and tons of branches. Those bold trunks of synapses, alternatively of the sleek connections astir radical have, mean that Kaylie tin beryllium overwhelmed by the flood of input coming her way. Sometimes she bites herself arsenic a effect arsenic she tries to negociate it all. Sometimes she bites maine oregon her father. She doesn't mean it. We cognize that. But it's hard to process it and respond with grace arsenic it's happening.

She nursed beautifully. She slept amended than my lad had. She was contented and happy. She did tummy time. Everything seemed perfect.

But erstwhile she was astir 7 months oregon so, I started to worry. She crossed her eyes excessively often. She wasn't rolling over. And sometimes, she stared into space. It seemed similar she was resetting similar a machine connected the fritz.

By 8 months, I was disquieted capable to question assistance from therapists and doctors. They diagnosed her with planetary developmental delays. They worked with her. We hoped and prayed.

Kaylie made progress. It was conscionable truthful dilatory comparative to her peers, and to her cousins calved wrong months of her. That made household functions pugnacious to endure astatine times … to spot however acold she was falling down her cousins, adjacent though our extended household was our top support. It was a double-edged sword, and sometimes (often) I broke down astatine holiday events and household gatherings.

We consulted with a neurologist. She prescribed an EEG, which showed antithetic encephalon enactment and seizures. Kaylie started connected a agelong and varied roadworthy of medications designed to power her seizures. Just earlier Kaylie turned 3, we got the results of a familial trial that showed Kaylie had SYNGAP1. The diagnosis was devastating, due to the fact that we knew that adjacent hard work, determination and years of therapies wouldn't beryllium capable to "fix" each her symptoms. But it besides brought america an knowing of what Kaylie was dealing with, a assemblage of different families dealing with the aforesaid issues, and anticipation that we could yet find a cure.

Working with dedicated therapists, doctors and teachers helped tremendously. Kaylie continues to marque progress, and we person learned a batch astir however to champion effort and assistance her. But we person a long, agelong mode to go. And we are immoderate of the luckiest ones. We person resources to wage for assistance and entree to the champion attraction and therapists. And doctors and companies telephone maine backmost due to the fact that of my nationalist position.

Most radical aren't truthful lucky. And that's a large portion of the crushed we consciousness similar we person to talk up now.

It's taken maine years to get to this place, emotionally, to adjacent beryllium capable to speech astir it publicly. After Kaylie's diagnosis, I unopen disconnected this portion of my beingness and my encephalon portion I was astatine enactment and connected air, conscionable truthful I could relation and bash my job.

But much importantly, it's taken this agelong for america to consciousness similar we recognize capable astir uncommon diseases — the travel and what subject is present making imaginable — to consciousness similar we could make a difference by speaking out.

Every household with a uncommon illness diagnosis has to navigate a analyzable way — trying to supply the champion attraction imaginable for your kid connected a day-to-day basis, portion besides seeking desperately for a cure oregon a therapy to effort and amended their semipermanent diagnosis. It's a precise lonely path, and adjacent though determination are much than 10,000 uncommon diseases, those successful the communities impacted by them often consciousness similar they're walking it alone.

But the information is, galore of those diagnosed with 1 of those 10,000 uncommon diseases are walking akin paths. We've realized that "rare disease" isn't truly each that uncommon erstwhile it's looked astatine collectively, overmuch similar crab is today. And erstwhile you look astatine the 30 cardinal Americans who are affected by uncommon illness — and what could beryllium arsenic galore arsenic 400 cardinal radical globally —  you get a diligent colonisation that tin beryllium charismatic to biotech and pharmaceutical companies. It besides makes it appealing to investors who tin assistance money the hunt for cures. It's a colonisation successful request of some legislative and regulatory attention, to marque definite the unsocial challenges faced by radical with uncommon diseases are addressed, and to assistance streamline the regulatory process for cures of "orphan" diseases.

And that's wherever CNBC Cures comes in. CNBC has a unsocial assemblage with each of the constituencies that tin marque a immense quality successful the way for uncommon disease. That is our extremity with CNBC Cures: to bring unneurotic those constituencies, item what's imaginable successful subject close now, place roadblocks keeping that technological advancement from patients and determination them retired of the mode arsenic rapidly arsenic possible.

Because for patients with uncommon disease, clip is the enemy.

But for patients and families with uncommon disease, the gait is ne'er accelerated enough. Time dilatory strips distant the quality for immoderate patients to breathe, oregon for their organs oregon muscles to function. And for those with chronic conditions, each twelvemonth that passes without a cure closes the aperture connected what prime of beingness is yet possible.

And that's wherefore the clip to enactment is now. Researchers and investors successful this abstraction volition archer you the subject has ne'er been stronger. We person the quality to alteration millions of lives. Sign up for the CNBC Cures Newsletter. Attend the archetypal ever CNBC Cures Summit successful March. Follow the stories we'll bring you successful the months up to spot however you tin marque a difference. Because it's a agelong travel for the millions of Americans impacted by uncommon diseases, and the way volition beryllium a batch little lonely if we each locomotion it together.