One Rare Heart

A complex open heart surgery is an undertaking full of inherent risks, during which many things hang in the balance. But, what if some of that unforeseen risk could be mitigated?  What if the surgeon could hold your heart in their hands, study every detail, visualize every structure, even practice their operation on your heart before they ever made an actual cut, or even entered the operating room?  What if?Recent state-of-the-art developments in 3D imaging and 3D printing have been making this a reality in many hospitals, and have been changing the world of pediatric medicine - especially for children with congenital heart disease.From realistic, patient-specific heart models used in surgery planning and patient education, to medical devices specific to the smallest babies - this incredibly flexible and affordable technology has the potential to innovate care for many of the smallest patients and their families. At the same time, like many emerging technologies, the laws and regulations that govern 3D printing in the medical space have been outpaced by the speed of innovation. Dr. Justin Ryan of the Helen & Will Webster Foundation 3D Innovation Lab at Rady Children's Hospital, in San Diego, CA says that sometimes this phenomenon makes working in this field feel a little bit like the "Wild West." However, he and others are actively helping to bring guidelines up to speed in order to make this technology as safe as it can be, while also leveraging that same flexibility in order to maximize his creativity in finding solutions for the hospital's patients. When it comes to that creativity, Dr. Ryan also draws upon his background as a classically trained artist, and surprisingly, he sees many similarities between his work as a biomedical engineer and the artistic process. Join me as we talk with the team from the 3D Innovation Print Lab, and explore this exciting and rapidly growing technology and its increasingly significant impact on the world of medicine.EPISODE GUESTSDr. Justin Ryan – Dr. Ryan is a research scientist and Director of the Helen & Will Webster Foundation 3D Innovations Lab at Rady Children's Hospital in San Diego, CA. With a background both in art and biomedical engineering, Dr. Ryan brings a unique skill set to his work with the 3D Innovations Lab.Dr. Sanjeet Hegde - Dr. Hegde is a pediatric cardiologist, research scientist, and the Director of Research at the Heart Institute at Rady Children's Hospital in San Diego, CA. He was a founding member of the 3D Innovations Lab, and helped pioneer Rady Children's Hospital's first 3D printing program.Kathryn Matthews - Kathryn is a parent of a child with complex congenital heart disease (CHD), and she is an active CHD advocate through her work and leadership with a family advisory council at her local children's hospital. Her advocacy, and courage to ask her medical team for what she thought her child needed, were a major catalyst in the integration of 3D printing into the medical care at Rady Children's Hospital.SUPPORTPlease consider supporting the important and innovative work of the Helen & Will Webster Foundation 3D Innovations Lab - you can find more information about how to do that HERE.*Episode Note - since initially producing this episode, the roles/titles of both Dr. Ryan and Dr. Hegde have changed. As a result, there is some discrepancy between their guest bios and how they are introduced in the episode. The titles included on this page are the most current.Also, the audio clip at 1:46 is Frank Muller performing the opening lines from "A Tale of Two Cities" by Charles Dickens.

It has long been thought that the root causes of intellectual disability cannot be treated or cured. However, a growing body of research suggests that a rare genetic condition known as Kabuki syndrome (which we explored in the previous episode) might offer a path forward in being able to treat, and partially reverse the effects of some types of intellectual disability.On this episode of One Rare Heart we speak with a physician/scientist at the forefront of this research, Dr. Hans Bjornsson, and hear about how his search for answers is also calling into question the medical establishment's long-held dogma surrounding intellectual disability.As Dr. Bjornsson seeks to provide therapeutic options that could help bolster intellect in the neurodivergent community, the ramifications of his work could be immense, especially for individuals with Kabuki syndrome and related disorders. Take this opportunity to engage with Dr. Bjornnson's exciting research as he shares about his work and as we learn more about the needs of this at-risk and unique community that he seeks to serve.EPISODE GUESTDr. Hans Bjornsson – Dr. Bjornsson is a physician/scientist who runs research laboratories at the University of Iceland and at Johns Hopkins University. Both of his labs focus on identifying the causes of intellectual disability in Kabuki Syndrome, and on the development of therapeutic treatments that could potentially help ameliorate the effects of intellectual disability in individuals with Kabuki, and related disorders. At Johns Hopkins he is Associate Professor of Genetics and Pediatrics, as well as Associate Director of the Epigenetics & Chromatin Clinic. He is also a Full Professor of Translational Medicine and Pediatrics at the University of Iceland, and is Director of Clinical Genetics at the University of Iceland Hospital.SUPPORT BJORNSSON LABSPlease consider supporting Dr. Bjornsson and his groudbreaking research. You can find more information about his work, his laboratories and how to support this research HERE.KABUKI SYNDROME - CLINICAL TRIALSIf you or someone you know is interested in taking part in the HOPE clinical trial mentioned in this episode (which is a collaboration between Johns Hopkins University and Oryzon), or other related studies, you can find more information by visiting the research page of the Kabuki Syndrome Foundation.NEURO-DIVERSITYClick HERE to learn more about intellectual disability as a form of neuro-diversity, and how you can better support individuals who are neuro-divergent.

Kabuki syndrome is a very rare and unique genetic condition whose wide-ranging effects can touch almost every organ system in an affected person's body. Remarkably, it shows up differently in every person, and the ramifications can spin seemingly endless and often mysterious medical challenges for individuals and their families.On this episode of One Rare Heart, we hear about the profound ways this disease has affected one family and their daughter. We also talk with a geneticist at Boston Children's Hospital about what makes this disease so unique, and the challenges it presents to medical teams trying to coordinate care. A celebrated theater scholar at Brooklyn College, of the City University of New York also helps us explore the connection between Kabuki syndrome and the Japanese art form after which it was named, Kabuki theater.On a personal note, this episode is deeply meaningful to me, as our daughter Grace was diagnosed with Kabuki syndrome. The way this disease manifested itself in her, led to a long and complicated medical journey, which included the first 18 months of her life being spent in the Cardiovascular Intensive Care Unit. In spite of that, she was always unapologetically herself, and shared with us the joy and love of connection that is a staple of individuals with Kabuki syndrome.EPISODE GUESTS:Rene King – Founder of All Things Kabuki (non-profit, and the only US patient advocacy group focused on Kabuki syndrome), and parent of Rikki, who has been diagnosed with Kabuki syndrome.Dr. Olaf Bodamer – Assistant Chief of Genetics & Genomics, and Director of the Roya Kabuki Program at Boston Children's Hospital, in Boston, MA.  Also, head of Bodamer Labs, which has a research focus in Kabuki syndrome.Dr. Samuel Leiter – Distinguished Professor Emeritus of Theater at Brooklyn College, of the City University of New York. He is also an expert on Kabuki theater, and author of over 10 books on the subject. He also actively reviews current theater productions on his blog Theater's Leiter Side and his Kabuki-focused Kabuki Woogie.Episode Title Note: This episode's title is a reference to Walt Whitman's poem I Sing the Body Electric, which celebrates the human body, and lifts up all different types of bodies and people as beautifully equal. I love the implications for people and bodies that are different, complex, and often overlooked and undervalued as a result. He writes, "no matter who it is, [the body] is sacred. . . Each belongs here or anywhere just as much as the well-off, just as much as you. Each has his or her place in the procession."

What happens when someone is born with only half of a working heart?  Remarkably, this is what happens in babies born with a rare congenital heart defect called Hypoplastic Left Heart Syndrome (HLHS). Physician/scientist Dr. Paul Grossfeld studies HLHS at his laboratory at the University of California San Diego, and his team has made some amazing, paradigm-shifting discoveries.  As you'll hear, these breakthroughs may very well lead to changes in the way this disease is treated, and potentially, eventually help prevent it altogether.  Full of beautiful personal stories and fascinating science, this episode of One Rare Heart will engage and illuminate.

The heart is a remarkable thing. At 21 days after conception, it's the first organ in the body to develop and function, and 99% of the time, everything in its development goes perfectly.  However, for 1% of babies, something in this process goes wrong, and the effects can be devastating. Join host Derren Raser as he explores what late author Brian Doyle calls "the wet engine." He also speaks with physicians in order to examine what it means for a child to have congenital heart disease (CHD), and recalls, with his wife, their own personal family story of receiving a CHD diagnosis for their daughter.  Woven with narrative, human stories, and a wealth of fascinating information, this episode of One Rare Heart will immerse and inspire.