A Solution to Sickle Cell: New Gene Editing Therapy Could Lead to a Pain Free Life

Innovations and techniques to enhance spinal surgical care, and support patient- centric outcomes, have made big strides in the last decade. Technology like surgical robots, 3D printed models customized to the patient, and a new procedure called vertebral body tethering are just a few examples of the many incredible advancements.   Two leading experts on scoliosis surgery at Children’s Hospital Colorado join us to discuss these impressive changes and how they are impacting patient care. Mark Erickson, MD, is the medical director of the Children’s Hospital Colorado Spine Program, as well as a specialist in orthopedic surgery. He’s also a professor of pediatrics at the University of Colorado School of Medicine. Sumeet Garg, MD, a pediatric orthopedic specialist, is the quality and safety director for the Spine Program, as well an associate professor at the University of Colorado School of Medicine.  Some highlights from this episode include:    An orthopedic surgeon’s approach to spinal surgery and how it’s evolved over time  How surgery can improve a patient’s quality of life   A look at new, customized patient approaches  How the use of robotics is advancing treatment  What’s on the horizon in spine surgery innovation  For more information on Children’s Colorado, visit: childrenscolorado.org.    

  When babies enter the world, there’s a plethora of diagnoses providers need to look out for. Some are simple fixes, while others are a bit more complicated. When parents take their kids home, how should they know what to keep an eye out for? In this episode, we explore one potential diagnosis for an infant: tongue ties. How can you tell if a baby has one, and if they do, when should it be fixed? Looking at the concerns and consequences of tongue ties is important in making a decision on how to treat it.  To provide guidance in making these decisions, Soham Roy, MD, is our guest for this episode. Dr. Roy specializes in pediatric otolaryngology at Children’s Hospital Colorado, and he’s a visiting professor of otolaryngology at the University of Colorado School of Medicine.  Some highlights from this episode include:    How to identify a tongue tie and variability in diagnoses   Why tongue ties are controversial    Identifying fact versus fiction in understanding tongue ties   The upsides and downsides of the tongue tie procedure   How providers can learn more  For more information on Children’s Colorado, visit: childrenscolorado.org.    

The care of children with cleft lip and palate spans an entire lifetime. It requires methodical care with a multidisciplinary team, and a special emphasis on the family. Integration with a child’s pediatrician, medical home and their loved ones is key. While the oral cleft is the most common craniofacial malformation in a newborn, the three main types differ vastly.   We are in for a treat with the guest for this episode. We are joined by a gifted plastic surgeon who has traveled the world to perform these life-changing surgeries and bring smiles to everyone involved. Phuong Nguyen, MD, specializes in plastic and reconstructive surgery here at Children’s Hospital Colorado. In addition, he is the associate vice chair of global surgery, chief of plastic surgery, co-director of the cleft lip and palate program and a professor of surgery at the University of Colorado School of Medicine.  Some highlights from this episode include:  Prevalence and diagnosis of cleft lip and palate  The role of the pediatrician or PCP throughout the lifespan of these patients  Understanding if treatment is unique per patient  Global impact of specialists, like Dr. Nguyen, traveling to treat patients  For more information on Children’s Colorado, visit: childrenscolorado.org   

You’ve likely heard of CRISPR, the comprehensive gene editing technology that emerged in the 2010s and has since revolutionized biological research. Additionally, the medical community has long been using the concept of gene therapy. What’s new is that both approaches have now successfully been harnessed for the treatment of human disease. In December 2023, the FDA approved two therapies for the treatment of sickle cell disease; one utilizing CRISPR technology and the other using a gene transfer therapy approach. These therapies now have the opportunity to change the life course of this terrible disease.   Our guest for this episode is Christopher McKinney, MD, who specializes in pediatric hematology here at Children’s Hospital Colorado. Dr. McKinney has been the hospital’s site principal investigator in some of the clinical trials that are contributing to these new sickle cell therapies, and he is an assistant professor of pediatrics at the University of Colorado School of Medicine.   Some highlights from this episode include:  How these treatments work for diseases like sickle cell  What we know about the effectiveness of these therapies thus far  Important side effects and risks to take into consideration  Regardless of FDA approval, what barriers are in place  Powerful patient examples  For more information on Children’s Colorado, visit: childrenscolorado.org   

In its 7th season, Charting Pediatrics has hit 2 million lifetime downloads! What an accomplishment. Our podcast team wants to thank each of you, our listeners, for tuning in each week to learn about the latest and greatest in pediatric healthcare. This accomplishment would not be possible without each of you, and we are thrilled to have you on this journey. 2024 has a lot of unique opportunities in store. Get ready for more content, new ideas, and further educational opportunities.  In this special episode, our hosts, David Brumbaugh, MD, Alison Brent, MD, and Dan Nicklas, MD, reflect on the growth of this podcast and the advancements that have happened since its inception. “And I am 100% convinced that we are, right now, in what will eventually be referred to as a golden era of pediatric medicine in terms of developing new treatments,” Dr. Brumbaugh says.  Here’s to 2 million more lifetime downloads, with listeners who are changing the realm of pediatric medicine every day. Thank you for all that you do!  For more information on Children’s Colorado, visit: childrenscolorado.org    

Children and their families need a healthcare system that serves them wholeheartedly. Having their unique needs prioritized creates an important opportunity for lifelong health and wellbeing. However, the current health system in our country and globally has massive gaps to fill, especially as it pertains to children of color. The medical community is focusing on preventative measures and connections between children, families, communities and the systems they interact with regularly. While large efforts are being made across the child healthcare field, there is strong agreement that child health transformation, with a focus on family -centered pediatric care, needs to be accelerated.  At the forefront of this work is Hala Durrah, MTA, a patient-family engagement consultant and advocate. Joining us virtually from San Marcos California, she discusses her role on the advisory group of national experts in the pediatric field of accelerating child health transformation initiative. She also has professional experience as a national speaker who has served on a number of national committees. Beyond her professional accomplishments, this topic resonates with her much more personally. Her current work in patient-family-centered care stems from her experiences as a mother of a child who has undergone two liver transplants and a bone marrow transplant. “What I realized when I first knew my daughter was sick, was that this was going to be a journey that required me to be as fully knowledgeable and as fully engaged as possible to advocate for her,” Durrah says.  Some highlights from this episode include:  How providers and practices can partake in this work  The importance of acknowledging patient-family engagement to best care for kids  What gaps exist and how this method helps to fill them  This episode is underwritten by Aegon Transamerica Foundation, a proud supporter of Charting Pediatrics and Children's Hospital Colorado. The Aegon Transamerica Foundation helps build a better world by committing to the improvement of wellness throughout their communities. Their partnership with Children's Colorado addresses the youth mental health crisis to help create a better mental health future for children. Thank you to Aegon Transamerica Foundation for investing in Children's Colorado.   For more information on Children’s Colorado, visit: childrenscolorado.org    

Facts and fiction can overlap in movies and television. That’s especially prevalent in medical dramas where the details seem so real but often don’t portray the full picture. While the intention may be to create powerful entertainment, sometimes a storyline can misinform the viewer. Unrealistic circumstances, overexaggerated outcomes and the bending of scientific truth, create confusion. When it comes to food allergies, how a situation is handled can be the difference between a routine medical occurrence and a lifesaving episode. “This is where we see some really dramatic portrayals because you generate that emotional kind of connection and we see it both from how reactions are portrayed inappropriately or very severe consequences or frankly people make fun of food allergies a lot,” David Stukus, MD, says.   In this episode, we dig into how portrayals in the media landscape can impact patient families in the medical community. We are joined by Dr. Stukus, who is otherwise known as the allergy kids doc on social media. Dr. Stukus is the director of the Food Allergy Treatment Center at Nationwide Children’s Hospital, as well as a professor of clinical pediatrics in the division of allergy and immunology. In addition, we have Vivian Hernandez-Trujillo, MD, with us. Dr. Hernandez-Trujillo is the director of the Division of Allergy and Immunology at Nicklaus Children’s Hospital, as well as a clinical professor of pediatrics at Florida International University Herbert Wertheim College of Medicine. These two doctors are at the forefront of important conversations for change. “I honestly think education is just important. Once we’re armed with accurate information, that’s powerful. I can speak as a patient, as a mom of two girls with food allergies, and as someone who is a physician for patients with food allergies, my cup is always half full,” Dr. Hernandez-Trujillo says.  This episode was recorded at the 2023 American Academy of Pediatrics National Conference and Exhibition. Some highlights from this episode include:  Common examples of allergy inaccuracies within media  The narrative around nut allergies  How we remove the stigma around allergies and change how they are portrayed  Undoing outdated practices and updating our information   For more information on Children’s Colorado, visit: childrenscolorado.org    

  As doctors, curiosity can be the driving factor to a long, successful, and fulfilling career. It can be the difference between daily repetition and years of practicing evolved education. For Barton Schmitt, MD, curiosity has been a transformative force for over 50 years, influencing his approach to teaching residents, patient encounters and career development. Otherwise known as a true icon of pediatrics, Dr. Schmitt’s humble, down-to-earth nature helped create one of the most prestigious pediatric guidelines in our industry. “Feedback from a variety of sources is really the life blood of all of this. At least 100 to 150 of the protocols are updated every year,” Dr. Schmitt says.   For more than five decades, Dr. Schmitt has elevated the Children’s Hospital Colorado name while creating an honorable legacy of his own. Many of you know him as the author of the ‘Pediatric Telephone Triage Guidelines’ used in our Pediatric Call Center. Those decision-support tools are now used worldwide and have been translated into multiple languages. Throughout his career he’s had numerous other titles such as the Faculty Attending for the Child Health Clinic and the medical director of the Child Protection Team. Now on the brink of his next chapter, we reflect on his incredible legacy and find out what’s next.  “I’m hoping to retire when I’m 90. I’ve got to because I have other things I want to do, including some books I want to write about teaching residents,” Dr. Schmitt says.  Some highlights from this episode include:  Details about the creation and expansion of the Pediatric Telephone Triage Guidelines  The impact that curiosity has had on his career  His hopes for the future  Advice for doctors, nurses and medical professionals  “Continual quality improvement is a team sport," Dr. Schmitt says. Dr. Schmitt wants to thank the many health care professionals who help him keep the pediatric telehealth guidelines, parent handouts and symptom checker up-to-date. Most of all, his dedicated pediatric editorial team: Medical editors: Sam Wang, MD, and Julia Bruckner, MD. Nurse editors: Kelli Massaro, RN and Lisa Swerczek, RN. Specialists at Children’s Colorado, who provide expert reviews of new topics. The many triage nurses who have worked in the Children's Colorado call center since 1988 and made observations that led to change. David Thompson, MD FACEP and the Adult Editorial Team The nurse leadership at over 40 other U.S. and Canadian call centers who provide the annual user feedback that keep the guidelines reality-based and evolving. For more information on Children’s Colorado, visit: childrenscolorado.org    

Digital content is at the center of our society and its prevalence continues to grow. Storytelling on digital platforms allows the medical community to showcase groundbreaking research and connect with audiences, who otherwise may not be privy to this information. Experts like Joshua Williams, MD, are at the forefront of some of this innovation. In October 2023, he received the Advancement in Research Award at the American Academy of Pediatrics National Conference.  Dr. Williams is an assistant professor of pediatrics at the University of Colorado School of Medicine, as well as a practicing primary care pediatrician with Denver Health. He is the principal investigator on a National Institutes of Health grant to examine the impact of digital storytelling on influenza vaccination equity. In addition, he is a co-investigator at the Denver Health for the Centers for Disease Control and Prevention Vaccine Safety DataLink Project. “And what I hope comes from it is improvement in equity, improvement in the rate of influenza vaccination uptake in groups that historically haven’t had high uptake,” says Dr. Williams  Some highlights from the episode include:  The larger goals of these data- and digital-based projects  How to merge medicine and storytelling  Advice for young doctors and medical professionals  Finding success from rejection  Dr. Williams will be presenting on this very topic at the PAS 2024 meeting in Toronto, Canda.  For more information on Children’s Colorado, visit: childrenscolorado.org    

Pediatricians, families, and pharmacists are faced with increasing drug costs and a vast array of complex biologic therapies. Up-to-date knowledge on prescribing practice is constantly a need, specifically regarding generics and the availability of biosimilar and interchangeable biosimilar agents. According to a report from the Association for Accessible Medicines, the U.S. healthcare system saved $408 billion from using generic and biosimilar drugs in 2022, a huge jump from the $195 billion in savings accumulated in 2013. In today’s episode, we have a rare opportunity to learn critical knowledge about this topic from renowned experts in the field.  We are joined by John Routt Reigart, MD, and Dr. Siu. Dr. Reigart is professor emeritus at the Medical University of South Carolina as well as the chairperson for the American Academy of Pediatrics’ (AAP) Committee on Drugs. “I have been recognized in my state, and to some extent nationally, as being an advocate for improved health for children. I feel that it’s very important that pediatricians be advocates for effective regulations for their patients,” Dr. Reigart says.  Dr. Siu is a clinical professor, the vice chair for teaching and learning, and the director of faculty mentoring at the Ernest Mario School of Pharmacy at Rutgers University. She is a pediatric pharmacy clinical coordinator and practices at the K. Hovnanian Children’s Hospital and Jersey Shore University Medical Center. She has also been appointed to the board of directors of the Board of Pharmacy Specialties and the Pediatric Pharmacy Association liaison for the AAP Section on Clinical Pharmacology and Therapeutics executive committee. “We want to make sure that medications are easily accessible to families and we also want to make sure that they are also cost effective,” Anita Sui, PharmD, says.  This episode was recorded at the 2023 American Academy of Pediatrics National Conference and Exhibition. Some highlights from this episode include:  The difference between biologics and generics  What the orange and purple books are and their roles in the industry  What an interchangeable product is  Patents and exclusivity  What savings could look like with an uptick of biologics and generics    For more information on Children’s Colorado, visit: childrenscolorado.org