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.

The Power of Story--When We Truly Listen

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

The Power of Story--When We Truly Listen 

 By Jenny Geurts, MS 

 

Jenny Geurts, who is the inaugural program director of the Master of Science in Genetic Counseling (MSGC) training program at MCW, reflects on her community engagement experiences and the impact volunteer work has on learners.  

This year, our genetic counseling program had the pleasure of engaging with the Sisters Network SE WI Chapter which is doing amazing work in the Black/African American community to increase access to resources and information, advocate for change, and provide supportive sisterhood.  While the invitation was for us to provide information about genetics to their group of cancer survivors and thrivers, I found myself on the receiving end of the knowledge….   

So many of our community members reported stories of never being told about genetic counseling for hereditary cancer prevention and early detection.  And worse, several were told they couldn’t have genetic testing, even when they were asking for it, never being referred to genetic counseling to assess their risk.  What use is all our advances in genetic technology, when it is being kept from those in our community who need it the most?   

The persisting health disparities in hereditary cancer faced by the Black/African-American population is the topic of a recent review article by Ambreen Khan, et al published in the Oncologist.   

Our community members have so much to teach us, if only we are willing to listen.  

The topic of my presentation at the 2022 Wisconsin Cancer Summit this year “Genetic Risk and Family History: How Sharing Stories Can Save Lives”, where it was heartwarming to see many members of the Sisters Network in person.  The Summit theme this year was “The Power of Story,” and brought together patients, advocates, care providers, public health workers, scientists, administrators and more. I can attest that the mission of the Summit was met: Together, we learned how storytelling can be used to improve cancer health outcomes, empower patients and providers, and help us connect, transform, learn, and heal. 

Sherri’s Story 

Due to the generous spirit of one our clinic patients, I was able to tell Sherri's story at this year’s Summit.  

A story where listening meant life or death….   

For years her doctors didn’t listen, which resulted in Sherri being faced with death.  

“...my father he was only 26 when he was diagnosed, his mother, brother, sister and my cousin, they all had it young…” 

 “I know this is not my normal — waking up tired, all day tired,” 

“…no, it’s not just about me getting older, it’s more than that…” 

The power of family history for cancer prevention was lost on Sherri, she would become a statistic in the widening health disparities seen in genetics and cancer care. 

However, because of her resolve, determination, and faith, she persisted…. until finally someone did listen.   

And this time listening resulted in the power of additional life to live, importantly a ~quality~ of life. 

Sherri graciously allows us to amplify her voice, how her life was saved when someone listened, because of genetic testing and immunotherapy.   

If your curiosity is peaked and you’d like to learn more, I’d encourage you to check out the Summit Recap to access recorded presentations, view slide content and learn more about the Cancer Stories Performance, which is a powerful stage production from the Wisconsin Story Project that honors the personal stories of people affected by cancer.  The end result is profound, candid, and deeply human. 

Narrative Reflection Exercises  

We ended the two-day Summit event with a narrative medicine activity, led by Dr. Toby Campbell from the University of Wisconsin/Madison, where we attempted to capture the feelings about our experiences during the Summit with a six-word narrative.  I’d like to share my reflection with the Transformational Times readers: 

“Witnessed stories heal them….and me?” 

This experience allowed me to deepen the impact of the Summit experience and forge the patient stories into my consciousness, helping me make meaning of the toll cancer takes on so many families. I hope that the Transformational Times readers will consider the situations where their patients have been generous with them, in the stories they shared, and trust they instilled.  If only we are compassionate and humble enough to truly listen. 

As part of our Genetic Counseling Seminar course in the MSGC program, learners participate in community engagement volunteering to promote a deeper understanding of the patient experience.  Having just learned about another narrative exercise (the 55-word essay) at the Summit, I thought asking the students to try this activity might also help them further process their experiences in the community.  In this exercise the writer must choose exactly 55 words for their narrative, resulting in the need to be extremely intentional about their word choice. The power of the 55-word essay was not only impactful for them, but also for me, as it was a whole new way for me to have a transcendent vicarious experience through reading their reflections.  Several of my learners wrote 55 word reflections after participation in volunteer community events, and are highlighted within the Poetry Corner of this Transformational Times issue. 

Creating a MSGC Mission Statement 

When our program development started in early 2020, we were asked to create a mission statement, it was something we were obligated to do and at first felt very “corporate.”  I certainly couldn’t recall the mission statement of the school I attended, and I didn’t understand the relevance of it, other than “checking the box” of requirements.  But when we brought the team together to start working on it, that is when it really came alive to me. 

The several months of developing the mission statement were painstaking. However, the considerations we took, and process we went through to land on these twenty-one intentional words, was so rewarding to us.  We are delighted with our mission statement as we feel it truly represents what we are here to do.   

Words matter.   

This narrative exercise of creating a mission statement also really helped me understand the power of our words.  

We hope this mission statement resonates with you as well, as either a provider, an educator, a learner, and/or a member of the community.  

Acknowledgements 

Special shout out to the dedicated work of Dr. Sandra Underwood, Debra Nevels, Raul Romo, Sharon Brown, Stephanie Newsome, Gigi Sanchez, Dr. Melinda Stolley, Dr. Charles Rogers, and others who cultivate relationships to ensure the success of community outreach activities. 

Jenny Geurts is an Assistant Professor in the Institute of Health & Equity and serves as the Associate Director of Genetic Counseling in the Genomic Science and Precision Medicine Center at MCW. She has been in practice for over fifteen years and has specialized in a variety of genetic conditions including oncology, cardiology, neurology, gastroenterology, and endocrinology.  She most recently has provided clinical care with an emphasis on inherited cancer conditions at Froedtert and the Medical College of Wisconsin Clinical Cancer Center. She is board certified by the American Board of Genetic Counseling. 

Bike vs. Auto

 From the October 21, 2022 issue of the Transformational Times

Guest Director’s Corner 

Bike vs. Auto 

 By Cassie Ferguson, MD 

Dr. Ferguson discusses how empathy can lead to a deeper connection with patients… 

Two weeks ago, I got a call that no parent is truly ever prepared to get, even those of us who spend much of our lives “dress rehearsing tragedy” (Brené Brown, Dare to Lead). I was driving home from a shift in the Children’s emergency department (ED) when an unfamiliar number popped up on my phone. I immediately got a sinking feeling in my gut and answered quickly. It was my oldest son, Ben. 

“Mom, I got hit by a car but I’m okay. I just kind of hurt my leg.” 

Breathless, I paused and tried to find the next right thing to say. 

“Where are you, Benny? Who is with you?” 

“The police are here. Do you want to talk to them?” 

The police?? Suddenly the image I had in my mind of a minor accident was replaced by one that included lights, sirens, and caution tape and I could feel myself getting pulled into the mode I naturally revert to when I’m running a code: gather information quickly, prepare for the worstcase scenario, plan the next steps. I cleared my throat and spoke with the officer who explained what had happened in far more detail than my brain—now fully in flight or fight mode—was ready to hear. 

When I think back to that day, it is that retelling of exactly how my son was hit, how he rolled up onto the hood of the car, and how he was thrown back down to the ground, that still undoes me. It is hearing from Ben that he was riding his bike home from school and decided to turn to get a chocolate chip cookie from the neighborhood bakery just before he was hit that brings me to my knees. 

That night as my son and I sat in my own ED getting films and waiting to hear about the next steps, I thought about all the mothers whose injured children I’d cared for—children far more seriously injured than Ben. Children whose lives were forever changed by their injuries. Children who had died. I thought of all the exquisitely painful details those mothers had to hear and then live with for the days, weeks, and years that followed. And it struck me how little we do to prepare them for what it will feel like to live with those details. How little we prepare them for the searing anger that will suddenly take hold of you when you see your child wince in pain; for the welling up of sadness when you’re reminded of what your child will miss out on because of their injury; for the intense terror that will grab you when you drive by the scene of the accident. 

We have had so many people reach out to us since Ben was hurt, and the love that has surrounded him and our family has been incredible. I’ve observed that in these encounters the two words I hear the most from those intending to comfort and lift up are “at least.” At least he was wearing his helmet. At least he was not more badly injured. At least the driver stopped. At least… And that is all true. I am extraordinarily grateful that Ben is okay, and that his leg will heal. And I say those same words frequently in the ED intending to support my patients’ families after close calls with tragedy. I believe that while it is not necessarily in our nature, our culture prompts us to seek and point out the positive. As caregivers we are taught to be useful and provide hope—as a profession, we value optimism, grit, and resilience and these values are passed onto our patients. 

With some reflection, however, I can see that this approach is also a way to create separation between me and the person for whom I am caring; a way to put a safe distance between myself or my children and a similar, imagined tragedy. And yet empathy requires we get up close. It requires that we connect with something inside of ourselves that knows what it feels like to be them. This is not a knowing that comes from our own experiences or imagining what it would feel like to “walk in their shoes.” This is a deeper knowing that arises from vulnerability; from a willingness to be open to our own suffering, and to know our own darkness such that our care arises not from pity but from a shared sense of what it really is to be human. 

Up close we can just sit and let our presence be a signal that we are there and that we are paying attention. Up close we can use the sacred gift of touch to heal. Up close we can ask questions like, “What does it feel like to experience this as a mother?” If you asked me that question right now, I would tell you that I feel angry and sad and afraid. I would tell you that during the last two weeks I’ve experienced guilt, overwhelm, and anxiety. 

And we might notice, the two of us, that just by asking and answering that question, we can find some kind of relief, some sense of rest in the knowledge that we are not alone. 

Cassie Ferguson, MD, is an Associate Professor of Pediatrics (Emergency Medicine) at MCW and the Associate Director of the Robert D. and Patricia E. Kern Institute for the Transformation of Medical Education.

Mentorship is a Partnership

December 1, 2022

From the December 2, 2022 Global Health Issue of the Transformational Times

Perspective/Opinion 

Mentorship is a Partnership 

By Laura D. Cassidy, MS, PhD  

Dr. Cassidy, the Associate Dean of Global Health, has been a long-term mentor for the Dr. Elaine Kohler Summer Academy of Global Health Research program.   

Being flexible and resilient are important and unexpected skills that medical students develop as they embark upon global health research. Unlike a highly structured medical school experience, students learn to adapt when things do not go according to plans. They pause, engage in the culture, and practice patience and kindness. 

I learned as much from my medical students as they did from me—if not more.  I have enjoyed mentoring many PhD students and, in 2018, I had the wonderful opportunity to mentor my first medical students in the Dr. Elaine Kohler Summer Academy of Global Health Research Program. We traveled to Kigali, Rwanda to meet with my partners and then to Kampala, Uganda where Sarah Benett (M1) and Brittany Fickau (M1) participated in a research project with my colleagues at the Child and Family Youth Foundation. They learned many important and expected research skills, from how to design an international study, to working with clinicians, to administering the Malawi Developmental Assessment Tool (MDAT) in young children, to analyzing data, and to preparing a manuscript. 

I learned about the pressure that medical students impose upon themselves—their perception of needing to work twelve-hour days to being highly productive—and it was difficult for them to slow down and engage at African speed. An important unexpected skill that they developed was to pause and observe the culture.  In this crowded city in a low- to middle-income country (LMIC), being “punctual” takes on a new meaning. Someone can plan to be early for a meeting or clinic but if there is a bad traffic jam, they may sit for hours in traffic. The meeting may happen three hours later or not at all.  

At first, there was stress because of their internal pressure to be productive and, yet, they were dependent on a system and culture that they could not control. They learned to work with women and children in a clinic that served residents of informal settlements.  They did not speak the same language.  They were dependent on clinic staff and interpreters.  They learned to form meaningful relationships and to network.  There were reflections on how to be efficient with very limited resources and the importance of listening…even when you don’t speak the same language. One of the most import skills we all cultivated was flexibility. When things don’t go according to plan- pivot and be resilient. 

All these experiences became even more important in 2020 when the pandemic hit.  The next two M1 mentees, Lauren Tostrud and Hannah Racicot, were planning to do their summer research program in Rwanda. We did the best we could to zoom there frequently, and they worked diligently with our partners on important literature reviews about the effects of the Hutu genocide against the Tutsis. We stayed in our homes and watched movies about sub-Saharan Africa and the culture and discussed them.  Throughout the pandemic, they never complained, they remained excited about their work, and I learned about the ways they implemented the skills they acquired into their medical school training. 

I am honored to serve as a mentor to these bright and dedicated students and this role does not end after a semester or graduation. Together we learn, we support each other, and we thrive. 

Laura D. Cassidy, MS, PhD, is the Associate Dean of Global Health, Professor and Director of the Epidemiology & Social Sciences Division, and Founding Director of the Master of Science Program in Global Health Equity at MCW.