By Dr. Nick van Terheyden aka Dr. Nick
Twitter: @drnic1
Host of Dr. Nick: The Incrementalist – #TheIncrementalist
On this episode I talked to Geri Landman, MD, MPH a pediatric urgent care physician, and Zach Landman, MD, MPH Interventional Pain Medicine Fellow at Stanford University. Their daughter Lucy (@lucythepgap3goose) has a rare single-gene disorder – she has two bad copies of the PGAP3 gene, one of the many genes involved in cell communication. In Lucy’s case, one tiny amino acid difference in one protein molecule (Phospholipase C).
Episode NOW on Demand
Any parent will recognize the anguish of this and the challenge of finding answers, made especially hard in this case with the parents both physicians and mom a pediatrician. Their journey to a diagnosis was not straightforward and as you will hear involved a degree of luck with one of the neurologists they saw being trained in Neuro-genetics and ordering tests that ultimately confirmed her diagnosis.
Personalized Medicine for Everyone
While this condition is rare it represents a major part of our future of medicine and the next frontier of personalized medicine. Our understanding of the human body has moved from the very granular disease and organ-based approach to a much more individualized, cellular, and personalized breakdown of disease. We classify many or most cancers based on the organ affected in the body but it is becoming clear that cancer cells have their own taxonomy that is perhaps better built on the cell type. As our understanding improves we find ourselves dealing with smaller and smaller subsets of patient groups. From a treatment perspective that can mean that therapies developed may apply to smaller numbers of patients and diseases. Our current economic mechanisms and approach to therapies do not support this new frontier very well creating gaps in the resources necessary to advance research and we are in need of new models and approaches.
Listen in to hear how Geri and Zach describe the various treatment options open to Lucy and others like her and the work they have done to establish research organizations and accelerate the work to create not just a treatment for Lucy but for many other people. They are determined to create a new class of therapies and approval processes that would allow for accelerated development and use of individualized treatments that would expand access and bring down the costs to make it accessible to more people.
Lucy turned one just recently and time is not on her side. They and Lucy need your help in any form – you can email info@moonshotsforunicorns.org and learn more from Moonshots for Unicorns and support Lucy, Geri, and Zach at Lucy’s GoFundMe page.
About the Show
For years Dr. Nick van Terheyden aka Dr. Nick, has served as a voice on the impact of new technologies on healthcare, earning a reputation as a leading authority on where the future of medicine is going. Combining powers of observation and real world experience, Dr. Nick has seen many predictions come true and makes the case that innovations in healthcare can be accomplished incrementally, not just by moonshot events. Tune in to hear Dr. Nick: The Incrementalist and his guests discuss what the future of healthcare looks like, how we will get there, and what it will take to improve healthcare for all.
This article was originally published on the Dr. Nick – The Incrementalist blog and is republished here with permission.