Focus on Genetics: Lessons from Uncle Dave

 From the December 9, 2022 Genetic Counseling Issue of the Transformational Times  

Focus on Genetics:  Lessons from Uncle Dave

By Wendy Peltier, MD

Dr. Peltier shares the candid story of how her uncle brought early inspiration to pursue a career in Medicine, and also opened her eyes to the personal challenges and opportunities of genetic testing as he faced a rare, progressive lung disease …

 

My uncle, Dr. David Pogue, worked as a cardiologist for twenty-nine years in the small community of Wichita Falls, Texas.  He inspired me very early on, to pursue a career in Medicine.  As “Yankees” from Illinois, my family lived far away from Texas, and holiday time together with the Pogue clan was truly a gift. I have wonderful memories of my brother and I connecting with our three cousins, all of similar age, and giggling together around the big table at family meals as our parents had spirited discussions.  At one of these memorable visits, my uncle took me on hospital rounds, where I observed his kindness and generosity with his patients and staff.  There were no Hospitalist services in those days, so “checking in” on his patients was common practice, even on a holiday weekend.  I can bring in my mind’s eye his long white coat, gentle smile, and patience as he carefully listed to heart sounds and reviewed care plans with his patients.  

He answered all my questions, sparked my interest in science, and empowered me that being a doctor was not just far away dream, but in reach if I was willing to put in the hard work.

Fast forward a decade or so, when I was in medical school, we got the news that he was ill.  After exhaustive testing for shortness of breath with exercise, he was found to have a rare form of emphysema, alpha-1 antitrypsin deficiency, a progressive and incurable genetic disorder.  This condition, which is expressed most severely in patients carrying two recessive alleles, causes a spectrum of lung disease that can manifest as progressive emphysema, chronic bronchitis or asthma, and can also affect the liver, pancreas and gallbladder.  Carriers of this gene can pass on risk to their children.  What a bitter irony that Uncle Dave would have emphysema after spending so much of his time trying to convince others to stop smoking!  I had just started learning about genetics and DNA in school, our bodies’ “phone book.”  I was particularly fascinated by how science allowed us to track these missing “addresses” that tied so eloquently to understanding of a disease process.  Genetic discoveries were just starting to have clinical impact, and the thought of gene therapy still a far away dream. 

 It seemed quite unbelievable that a genetic disorder could be in my family.  Could I be a carrier? Would I want to know? Would it impact major decisions in my life?

As was his brave and humble nature, my uncle learned everything he could about his condition, what to expect, and opportunities to contribute to research.  Pre-symptomatic genetic testing was not readily available at the time, but he sought resources for anonymous testing for his siblings.  I keenly remember what it was like to wait for my Mom’s results.  My uncle deeply believed in science and the power of research.  He knew that having this type of information could mean receiving early preventative treatments, once they were developed.  He also actively sought information about his prognosis, so he could make plans for his family to be supported, and to make his own careful decisions about future therapies with a lung transplant or other interventions.  He became very involved in the Alpha-1 Foundation.

As his disease slowly progressed, he made the necessary changes to his medical practice and sought continued opportunities to serve.  Using his background in cardiac rehab, he took a very diligent approach to his own health and was able to far outlive his prognosis, despite declining a lung transplant.  During this time, I was starting my career as a neuromuscular neurologist (despite his multiple attempts to convince me that Cardiology was a superior discipline!) and found myself often in the position of counseling families about genetic testing for muscular dystrophies and other progressive neurologic conditions. 

It was my good fortune to do this shoulder-to-shoulder with exceptionally talented genetic counselors.  Their knowledge, wisdom, and kindness in approach to all our patients and families, regardless of their health literacy, was a true inspiration.  

I knew, first-hand, how challenging decisions about testing could be, and the emotional impact to affected individuals in navigating this, sometimes with complex family relationships.  I did my best to provide balanced options, educate about the cautions of asymptomatic testing, and link families to important resources through the Muscular Dystrophy Association (MDA).  Incredible scientific progress was being made at this time in understanding the molecular biology and genetics of muscular dystrophies, previously named by the famous neurologists who described the syndromes (Becker’s, Duchenne’s, Emery-Dreifuss, etc.) now re-labeled by the specific type of gene defect or “address.”  Genetic testing became more available and allowed diagnostic accuracy without necessarily having patients go through painful muscle biopsies.  Gene therapy seemed closer in reach.

I will never forget attending my Uncle Dave’s funeral.  All of his family members had been carefully prepared for the event.  His favorite band, The Mad Medics, were playing Dixieland music as folks entered the church.  As my Uncle Don stood to give his eulogy he remarked, “I was given very strict instructions as to how this event will be, short and happy.”  And it was. So many people from the community attended to pay respects.  My aunt had a video camera in the church library, where attendees could sit and share a story in remembrance of the beloved Dr. Pogue.  One of my favorites was from one of his former nurses, who was a smoker.  She and her colleagues would occasionally sneak down to the smoking room during breaks.  She recalls seeing little paper airplanes floating down through the ceiling vent, and retrieving them only to see anonymous, hand-written random facts, about the health risks of tobacco use.  There was no electronic record back then, so of course she recognized his handwriting!  She described this as a true act of caring, without being judgmental.

He was remembered by his community and colleagues for his tireless service, a mission trip to Africa with the Peace Corps, starting the first cardiac rehab unit at the Clinics of North Texas, a Distinguished Service Award from the Wichita County Medical Society, and for being a proud charter member of the Wichita Runner’s Club. 

My Uncle Dave remains a steady presence and source of inspiration to me at challenging times, despite the many years that have passed since his death.  

For me, it’s not as much the professional accolades, as the memory of his kind, humble, and funny spirit, and ability to make “good trouble” in his work as a physician.  As a patient, he was always looking for opportunities to help others despite his own personal challenges. 

I recently connected with my aunt Georgia about these memories.  She was touched by this tribute and shared that one of the things she most admired about Dave as a doctor was how deeply he cared for his patients as people and recognized the importance of giving time to them during visits, something that she sees as a rarity now in medial encounters.  

There has been miraculous progress in science since my days in medical school to make gene therapy a reality.  Uncle Dave would be proud.

Wendy Peltier, MD, is a Professor of Medicine in the Division of Geriatric and Palliative Medicine at MCW.  She serves on the Faculty Pillar for the Robert D. and Patricia E. Kern Institute for the Transformation of Medical Education and on the editorial board of the Kern Transformational Times.