CNBC launches initiative to help 30 million Americans rare diseases

Thirty million. It’s a big number. Maybe not in the context of business news, where we usually talk about company valuations that are in the billions, or even trillions. But when we’re talking about people, 30 million is a very big number. 

Thirty million is the number of people that the National Organization of Rare Disorders estimates are living with a rare disease in the United States.

Defining a rare disease can be tricky. In the U.S., a disease is considered rare if fewer than 200,000 Americans are diagnosed with it. The Centers for Disease Control and Prevention says that works out to be less than 7 in 10,000 people. In the European Union, a disease is classified as rare if it affects no more than 5 in 10,000 people. In China, it’s 1 in 10,000. Any way you define it, patient populations within the rare disease community are smaller than those diagnosed with more well-known diseases like Alzheimer’s, which the Alzheimer’s Association estimates stood at more than 7 million in the U.S. as of last year. But when you consider that there are more than 10,000 rare diseases, and as many as 400 million people suffering from them worldwide, you start to take notice.

That’s why we’re launching CNBC Cures, a new initiative to help raise awareness of rare diseases and improve patient outcomes for people living with them. Led by “Squawk Box ” anchor Becky Quick, the initiative was inspired by her family’s own rare disease journey. 

Kaylie’s diagnostic odyssey

Quick’s youngest daughter, Kaylie, was just 7 months old when Becky first suspected that something wasn’t right. 

“She was not meeting some of her developmental milestones, and I was worried about it,” Quick said.

Kaylie visited several doctors, and at first, none of them seemed concerned. But after several months, a developmental-behavioral pediatrician diagnosed Kaylie with global developmental delay, a broad term given to a child that is significantly delayed in hitting developmental milestones, like walking and talking. But the diagnosis didn’t point to a cause. 

Her family was left grasping for answers until just before Kaylie’s third birthday, when a genetic test revealed the root cause of Kaylie’s struggles. She had SYNGAP1, a rare genetic disease that has only been diagnosed in about 1,700 people in the world.

“Our neurologist didn’t know what it was,” said Quick. “She told us, ‘You’ll probably know more about this by the end of the weekend than I do.’ And we did.”

“We ran to Google and started googling things,” Quick explained. “There were researchers who were already doing work, and thank God they had been. That’s why we knew as much as we did about SYNGAP1.”

SynGAP is a protein crucial to brain development. It helps with learning and memory, and also with regulating communication in the synapses of the brain. Kaylie has a genetic mutation in her SYNGAP1 gene that causes her brain to get only about half the SynGAP protein it should be getting. That makes it difficult for the neurons in her brain to communicate effectively with each other.

Despite SYNGAP1’s small patient population, it is thought to be much more prevalent than it once was. Mutations in the SYNGAP1 gene are surprisingly common and are estimated to account for between 1%-2% of all intellectual disabilities. An article published by CURE SYNGAP1 indicates the figure could be as high as 76,000 in the U.S. alone. But because most doctors don’t know the symptoms of SYNGAP1, and the vast majority of newborns aren’t screened for genetic diseases at birth, it’s believed that most cases of SYNGAP1, like many rare diseases, go undiagnosed.

SYNGAP1 is a spectrum disorder, meaning not all patients are affected the same way or with the same severity. It’s common for SYNGAP1 patients to have seizure disorders, intellectual disabilities, autism, motor skill delays, difficulty forming speech, balance and coordination issues, and high pain thresholds. Kaylie has all these symptoms.

As Kaylie grew and became more mobile, dealing with her symptoms became more difficult.

“We have all the doors locked all the time so that she doesn’t walk out. She doesn’t know to call out if she needs help,” said Quick. “She used to fall and hurt herself and not even realize it or say anything. You’d see the blood, or you’d see the bruise,” Quick added. 

Despite her physical challenges, Quick says Kaylie is still a happy and active kid. “She can do all of these things that people thought maybe she couldn’t. She doesn’t just walk. She runs. She runs everywhere, through the house, through the outside. She jumps. She’s a daredevil. She loves roller coasters … she loves movement,” Quick added.

There is no cure for SYNGAP1. There are several treatments in development, though none have yet progressed beyond clinical trials.

Progress has been made in identifying more individuals with SYNGAP1. A 2019 census found just 484 patients worldwide. Shortly after Kaylie’s diagnosis, that figure jumped to 1,000. It now stands at more than 1,700 globally. 

Expanded access to genetic screening for newborns, a cause nearly everyone in the rare disease community is rallying behind, could help further identify more SYNGAP1 patients. That’s key when dealing with rare diseases because a bigger patient pool can attract more research and funding for treatments. It also helps regulators better understand the scope of a disease, which can ultimately get those treatments to market more quickly.

While there is no treatment that Kaylie can take to reverse her disorder, her parents have put in place a routine anchored by her therapists, her family, and a strong support system to help her battle through the many challenges she faces. 

“She works really hard every day. Every single day Kaylie works harder than any of the rest of us, and that’s just who she is,” Quick said. 

“She loves her sisters and her brother. She loves her cousins and she loves her family. She’s got friends at school … she is just happy every single day, and I am grateful for that.”

Why CNBC?

“I’ve been amazed at how many people are going through something similar,” Quick said. “The idea that this is a universal struggle that so many people are going through … that kind of got the wheels turning for us.”

“We’re the lucky ones. We have resources,” Quick said. She and her family began to think about how they could make a difference for others navigating a rare disease diagnosis.

Rare diseases often go overlooked by investors and pharmaceutical companies. As a result, patients diagnosed with a rare disease usually go underserved by the medical community. Smaller diagnosed patient populations make it difficult to attract funding for research into rare disease treatments. And where promising research does exist, those smaller patient populations make it more difficult for potentially lifesaving treatments to clear regulatory hurdles and get to the patients that need them. 

This is where Quick saw an opportunity to make a difference. 

“We thought, you know, CNBC has a pretty unique audience. It’s got an influential audience. It’s an audience of people who know how to get things done. Why not tap into what they can bring to the table too?” she said.

CNBC Cures is teaming up with some of the nation’s top researchers, doctors, regulators and patient advocacy groups.

The initiative’s goal is to help build a community that can break down barriers that can limit treatment options and isolate those living with a rare disease. Through our storytelling and live events, we’ll work to identify the most innovative scientific developments in the rare disease space and put a spotlight on the bottlenecks preventing them from getting to the patients who need them. 

We’ll bring you moving and inspirational stories about the individuals changing the way we think about rare diseases and offer a space where you can share your own rare disease journey with us. And we’ll share perspectives from the most prominent investors in the space, highlighting where they see opportunities for healthy returns, and for transforming health care as we know it.

Here’s how we’ll do it:

1. A new weekly newsletter bringing insights into the biggest headlines impacting the rare disease community, and the research being done today that will change the way we think about modern medicine forever.
2. Our on-air and digital coverage highlighting the individuals, companies and institutions working to improve the lives of millions of Americans living with a rare disease.
3. Our first-ever CNBC Cures Summit, a landmark event slated for March 3 in New York, bringing together the most influential investors, policymakers and leaders in the biotechnology space.

The truth is that the term rare disease is misleading. The odds are that almost all of us know someone who is impacted by a rare disease, and the millions who make up this community are more connected than we think. Every week scientists are finding new evidence that shows if you can figure out how to effectively treat one rare disease, there are countless others that can be treated using similar mechanisms. And advancements made in rare diseases are offering new hope for breakthroughs in everything from Alzheimer’s, to cancer, and heart disease.

These are just a few of the themes we want to explore with CNBC Cures in the coming year. It’s a journey we’re on together, and together we can make a difference. 

More information about SYNGAP1 can be found at CURE SYNGAP1, CHOP, NORD, and Global Genes.