CNBC launches initiative to help 30 million Americans with rare diseases

Thirty million. It's a big number. Maybe not in the context of business news, where we typically talk about company valuations running into billions or even trillions. But when we talk about people, 30 million is a very large number.

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

Defining a rare disease can be complicated. In the United States, a disease is considered rare if fewer than 200,000 Americans are diagnosed. The Centers for Disease Control and Prevention says that equates to fewer than 7 in every 10,000 people. In the European Union, a disease is classified as rare if it does not affect more than 5 in 10,000 people. In China, it is 1 in 10,000. Any way you define it, patient populations within the rare disease community are smaller than those diagnosed with better-known diseases like Alzheimer's, which the Alzheimer's Association estimates numbered more than 7 million in the U.S. last year. But when you consider that there are more than 10,000 rare diseases and up to 400 million people suffer from them worldwide, you begin to realize.

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

Kaylie's Diagnostic Odyssey

Quick's youngest daughter, Kaylie, was just 7 months old when Becky first suspected something was wrong.

“She wasn't meeting some of her developmental milestones and that worried me,” Quick said.

Kaylie visited several doctors, and at first, none of them seemed worried. But after several months, a developmental-behavioral pediatrician diagnosed Kaylie with global developmental delay, a broad term for a child who is significantly delayed in reaching developmental milestones, such as walking and talking. But the diagnosis did not point to a cause.

Her family was left searching for answers until just before Kaylie's third birthday, when genetic testing revealed the root cause of Kaylie's problems. He had SYNGAP1, a rare genetic disease that has only been diagnosed in about 1,700 people worldwide.

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

“We ran to Google and started looking for things,” Quick explained. “There were researchers who were already working, and thank God they had. That's why we knew so much about SYNGAP1.”

SynGAP is a protein crucial for brain development. It helps with learning and memory, and also with the regulation of 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 of the SynGAP protein it should. That makes it difficult for the neurons in your brain to communicate effectively with each other.

Despite SYNGAP1's small patient population, it is believed to be much more prevalent than before. Mutations in the SYNGAP1 gene are surprisingly common and are estimated to account for 1% to 2% of all intellectual disabilities. An article published by CURE SYNGAP1 indicates that the number could reach 76,000 in the United States alone. But because most doctors are not aware of the symptoms of SYNGAP1 and the vast majority of newborns are not screened for genetic diseases at birth, it is believed that most cases of SYNGAP1, like many rare diseases, go undiagnosed.

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

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

“We have all the doors closed all the time so she doesn't come out. She doesn't know to call if she needs help,” Quick said. “She used to fall and hurt herself and she wouldn't even notice 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 child. “She can do all these things that people thought maybe she couldn't. She doesn't just walk. She runs. She runs everywhere, around the house, 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, although none have yet advanced beyond clinical trials.

Progress has been made in identifying more people with SYNGAP1. A 2019 census found only 484 patients worldwide. Shortly after Kaylie's diagnosis, that number jumped to 1,000. It now stands at more than 1,700 worldwide.

Expanded access to newborn genetic screening, a cause supported by nearly all members of the rare disease community, could help better identify more patients with SYNGAP1. This is key when it comes to rare diseases because a larger group of patients can attract more research and funding for treatments. It also helps regulators better understand the scope of a disease, which can ultimately allow those treatments to reach the market more quickly.

While there is no treatment Kaylie can take to reverse her disorder, her parents have established a routine based on her therapists, her family, and a strong support system to help her overcome the many challenges she faces.

“She works very hard every day. Every day, Kaylie works harder than any of us, and that's who she is,” Quick said.

“She loves her sisters and her brother. She loves her cousins ​​and she loves her family. She has friends at school…she's just happy every day and I'm grateful for that.”

Why CNBC?

“I've been surprised to see 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 got the wheels turning for us.”

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

Rare diseases are often overlooked by investors and pharmaceutical companies. As a result, patients diagnosed with a rare disease often do not receive adequate care from the medical community. Smaller diagnosed patient populations make it difficult to attract funding for research into rare disease treatments. And when there is promising research, those smaller patient populations make it more difficult for potentially life-saving treatments to overcome regulatory hurdles and reach the patients who need them.

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

“We thought, you know, CNBC has a pretty unique audience. It has an influential audience. It's an audience of people who know how to get things done. Why not take advantage of what they can bring to the table as well?” she said.

CNBC Cures is partnering with some of the country's leading researchers, physicians, regulators and patient advocacy groups.

The goal of the initiative 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 will work to identify the most innovative scientific developments in the rare disease space and highlight the obstacles preventing them from reaching patients in need.

We will bring you moving and inspiring stories about the people who are changing the way we think about rare diseases and offer you 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 sector, highlighting where they see opportunities to realize healthy returns and transform healthcare as we know it.

This is how we will do it:

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

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

These are just some of the topics we want to explore with CNBC Cures next year. It is a journey we take together and together we can make a difference.

More information about SYNGAP1 can be found at SYNGAP1 CURE, CUT, NORTHand Global genes.