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 usually talk about company valuations that are in the billions or even trillions. But if we talk about people, 30 million is a very large number.
The National Organization of Rare Disorders estimates that 30 million people in the United States live with a rare disease.
Defining a rare disease can be difficult. In the United States, a disease is considered rare if fewer than 200,000 Americans are diagnosed with it. According to the Centers for Disease Control and Prevention, fewer than 7 in 10,000 people do. In the European Union, a disease is considered rare if it affects no more than 5 in 10,000 people. In China it is 1 in 10,000. However you define it, patient populations within the rare disease community are smaller than those diagnosed with more well-known diseases such as Alzheimer’s. The Alzheimer’s Association estimates there were 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, it becomes obvious.
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 these diseases. Led by “Squawk Box” host Becky Quick, the initiative was inspired by her family’s own journey with rare diseases.
Kaylie’s diagnostic odyssey
Quick’s youngest daughter, Kaylie, was just seven months old when Becky first suspected something was wrong.
“She wasn’t hitting some of her developmental milestones and I was worried about that,” Quick said.
Becky and Kaylie on a carousel.
Becky Quick
Kaylie visited several doctors and at first none of them seemed concerned. But after several months, a developmental behavior 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 speaking. However, the diagnosis revealed no evidence of a cause.
Her family searched for answers until just before Kaylie’s third birthday, a genetic test revealed the cause of Kaylie’s problems. She 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, ‘By the end of the weekend you’ll probably know more about this than I do.’ And that’s what we did.”
“We went to Google and started Googling things,” Quick explained. “There were researchers already working, and thank God they were. So we knew as much about SYNGAP1 as we did.”
SynGAP is a protein that is crucial for brain development. It helps with learning and memory as well as regulating communication in the brain’s synapses. Kaylie has a genetic mutation in her SYNGAP1 gene that causes her brain to only receive about half of the SynGAP protein it should. This makes it difficult for the neurons in their brain to communicate effectively with each other.
Despite the small patient population of SYNGAP1, it is believed to be much more common than before. Mutations in the SYNGAP1 gene are surprisingly common, accounting for an estimated 1-2% of all intellectual disabilities. An article published by CURE SYNGAP1 suggests the number could be as high as 76,000 in the US alone. However, because most doctors are unaware 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, as with many rare diseases, go undiagnosed.
SYNGAP1 is a spectrum disorder, meaning not all patients are affected in the same way or with the same degree of severity. SYNGAP1 patients often experience seizure disorders, intellectual disability, autism, delayed motor skills, difficulty speaking, balance and coordination problems, and a high pain threshold. Kaylie has all of these symptoms.
Kaylie smiled when she was younger.
Becky Quick
As Kaylie grew and became more mobile, managing her symptoms became increasingly difficult.
“We keep locking all the doors so she can’t go out. She doesn’t know how to call when she needs help,” Quick said. “She fell and hurt herself without realizing it or saying anything. You could see the blood or 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 do. She doesn’t just walk. She runs. She runs everywhere, through the house, outside. She jumps. She’s a daredevil. She loves roller coasters… she loves exercise,” Quick added.
Kaylie on a Sesame Place ride.
Becky Quick
There is no cure for SYNGAP1. There are several treatments in development, but none have progressed beyond clinical trials.
Progress has been made in identifying additional individuals with SYNGAP1. A census in 2019 identified only 484 patients worldwide. Shortly after Kaylie’s diagnosis, that number rose to 1,000. There are now more than 1,700 worldwide.
Expanding access to genetic screening for newborns, a cause supported by nearly everyone in the rare disease community, could help identify more SYNGAP1 patients. This is critical in treating rare diseases because a larger patient pool can attract more research and funding for treatments. It also helps regulators better understand the extent of a disease, which can ultimately lead to these treatments coming to market more quickly.
Although there is no treatment available for Kaylie to reverse her disorder, her parents have established a routine anchored by her therapists, family, and a strong support system to help her cope with the many challenges she faces.
“She works really hard every day. Every day Kaylie works harder than any 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 has friends at school…she’s just happy every day, and I’m grateful for that.”
Why CNBC?
“I was amazed at how many people go through something similar,” Quick said. “The idea that this is a universal struggle that so many people are going through … kind of got us going.”
“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 struggling with a rare disease diagnosis.
Rare diseases are often overlooked by investors and pharmaceutical companies. As a result, patients diagnosed with a rare disease are typically underserved by the medical community. Smaller diagnosed patient populations make it difficult to attract funding for research into treatments for rare diseases. And where there is promising research, these smaller patient populations make it harder for potentially life-saving treatments to overcome regulatory hurdles and reach the patients who need them.
Quick saw an opportunity to make a difference here.
“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 leverage what they can bring to the table?” she said.
CNBC Cures works with some of the country’s top researchers, physicians, regulators and patient advocacy groups.
The aim of the initiative is to help build a community that can break down barriers that limit treatment options and isolate people with a rare disease. Through our storytelling and live events, we will work to identify the most innovative scientific developments in rare diseases and highlight the bottlenecks that prevent them from reaching the patients who need them.
Becky Quick with KJ Muldoon. KJ, born with the rare disease CPS1, was the first known person to receive personalized CRISPR-based genome editing therapy.
We tell you moving and inspiring stories about the people who are changing the way we think about rare diseases, and provide a space for you to share your own rare disease journey with us. And we will share the perspectives of the most prominent investors in the space, highlighting where they see opportunities for healthy returns and for transforming healthcare as we know it.
This is how we do it:
- A new weekly newsletter with insights into the biggest headlines impacting the rare disease community and the research being conducted today that will forever change the way we think about modern medicine.
- Our on-air and digital coverage profiles the individuals, companies and institutions working to improve the lives of millions of Americans living with a rare disease.
- Our first-ever CNBC Cures Summit, a groundbreaking event scheduled for March 3 in New York that will bring together the most influential investors, policymakers and executives in biotech.
The truth is that the term “rare disease” is misleading. Chances are, almost all of us know someone 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 that shows that if you can figure out how to effectively treat one rare disease, there are countless others that can be treated using similar mechanisms. And advances in rare diseases offer new hope for breakthroughs in everything from Alzheimer’s to cancer to heart disease.
These are just a few of the topics we plan to explore with CNBC Cures in the coming year. It is a journey we take together and together we can make a difference.
For more information about SYNGAP1, see CURE SYNGAP1, CHOP, NORD and Global Genes.
If you would like to share your story, receive more information or discuss ways to get involved, please email us at: cnbccures@response.cnbc.com. Someone from our team will be in touch with you shortly.
