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 […]
Ep. 4 – Kabuki Syndrome | Pt. 2 – A Treatable Cause of Intellectual Disability
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 […]
Ep. 3 – Kabuki Syndrome – “I Sing The Body Eclectic”
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 […]
Ep. 2 Half of My Heart
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 […]
Ep1. The Wet Engine
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 […]