It Happened To Me: A Rare Disease and Medical Challenges Podcast

#57 APOL1-Mediated FSGS: What Families Need to Know, from Diagnosis to Advocacy

Jaime Albright Henighan shares her family’s journey after two of her sons, Joshua and Jorden, were diagnosed with a rare genetic kidney disease called APOL1-mediated FSGS (Focal Segmental Glomerulosclerosis).
 
Jaime’s story highlights the importance of early detection, education, and advocacy for families navigating this challenging condition. She discusses her partnership with Nephcure, a patient advocacy organization, and her mission to raise awareness about FSGS, especially among individuals of West African descent, who are at higher risk due to the APOL1 gene mutation.
 
Topics Covered:
What is FSGS?: Understanding APOL1-mediated FSGS and its impact on kidney health.
The Family’s Journey: How high blood pressure led to Joshua’s diagnosis, and the shock of discovering Jorden had the same condition.
The Role of Genetics: Why individuals of West African descent are at greater risk and the importance of genetic awareness.
Early Detection: How identifying symptoms early has helped Jaime’s sons manage their health.
Advocacy and Education: Jaime’s work with Nephcure and her efforts to raise awareness globally, including in Ghana.
Parenting Through Challenges: Jaime’s emotional journey as a mother and her advice for other parents navigating rare diseases.
 
Key Moments:
Jaime explains how her family discovered FSGS and the challenges they faced in obtaining a diagnosis.
Insights into the genetic factors behind APOL1-mediated FSGS and its prevalence in specific populations.
Advocacy efforts to educate families and healthcare providers about the disease.
 
Guest Bio:
Jaime is a wife and mother of six. Her family resides in Alpharetta, GA. She is also a Forensic Interviewer and Podcast Producer at Tenderfoot TV. In 2021, her seemingly healthy 17 year old son, Joshua, was randomly diagnosed with high blood pressure. This led to additional testing and a diagnosis of Focal Segmental Glomerulosclerosis (FSGS), a rare genetic kidney disease. Later that year, her 25 year old son, Jorden, was also diagnosed with FSGS. This was shocking to the Albright Henighan family. How could they be at high risk of a disease that they had never heard of? They connected with Nephcure, a patient advocacy organization, for support and resources. They learned that 1 in 8 people of West African descent are at risk of APOL1 mediated FSGS due to a genetic mutation. Thanks to early detection, her sons are stable today but this is a rare outcome for FSGS patients due to a lack of education and barriers in the medical community. They decided to share their story across the United States and even in Ghana. Their goal is to educate and empower others. If caught early, there are medical interventions and clinical research trials that can save native kidneys and lives. There is hope for FSGS patients.
 
Resources Mentioned:
Nephcure Kidney International: Advocacy and support for families affected by kidney diseases.
Information on APOL1-mediated FSGS and genetic testing.
Tips for recognizing early symptoms of kidney disease.
 
Connect with Us: 
Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. 
 
“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

#56 Navigating Dual Diagnoses: Amy Raskin Shares Parenting Strategies for Diabetes and Celiac

Guest Amy Raskin shares her experience parenting a child living with type 1 diabetes (T1D) and celiac disease. Amy shares her personal experiences, the challenges her family has faced, and the strategies they’ve developed to support her son Andrew’s health and well-being.
 
Amy Raskin is a pioneer in global thematic investing and widely respected as a bold thought leader. As the Chief Investment Officer of Chevy Chase Trust since February 1, 2014, she has propelled the firm to a leadership position in thematic investing, a small, but rapidly growing approach to investing that MSCI recently added to its universe of style categories. Under her leadership, Chevy Chase Trust has outperformed its global benchmark in each of the last nine years; it is in the top decile of managers for the last 10 years. Amy is also a monthly guest on CNBC.
 
Prior to joining Chevy Chase Trust, Amy was Senior Vice President at AllianceBernstein in New York, serving as Director of Research for Thematic Portfolios, Director of Research on Strategic Change, head of U.S. & Global Growth Equity Research and Chief Investment Officer of AB Venture Capital Fund. The Research on Strategic Change team published in-depth research papers on a wide range of thematic investment topics, such as broadband, China, hybrid vehicles, climate change and molecular medicine.
 
Earlier, she worked as an investment banker at Lehman Brothers and as a research analyst at Donaldson, Lufkin & Jenrette. Amy graduated from the University of Pennsylvania’s School of Engineering and Applied Science with a Bachelor of Science in Engineering. She currently serves on the Boards of UPenn’s Engineering School and of the T1D Fund, which is a venture capital fund focused on finding a cure to Type 1 diabetes.
 
Topics Covered:
Understanding Type 1 Diabetes: What T1D is, how it differs from adult-onset diabetes, and the symptoms to look for.
A Family’s Journey: Andrew’s diagnosis, the path to confirmation, and how the family adapted to his needs.
Living with Celiac Disease: The symptoms, diagnosis, and how it intersects with managing T1D.
Daily Life Adjustments: Modifying the home, navigating school and friendships, and encouraging independence.
Sibling Dynamics: How Andrew’s older brother, Jason, has adjusted to the care and attention Andrew requires.
Advice for Parents: Amy’s wisdom for families facing T1D, celiac, or other chronic conditions.
Key Moments:
Amy discusses the emotional and practical aspects of explaining T1D to her children.
Insights into managing dual diagnoses of T1D and celiac disease.
Strategies for balancing a demanding career with the complexities of parenting a child with chronic health conditions.
Resources Mentioned:
T1D Fund
Camp Sweeney
Break Through T1D 
Findmeglutenfree.com
Hole In The Wall Gang Camp
 
Connect with Us:
Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. 
 
“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

#55 Growing Up with a Childhood Autoimmune Disease with Beth Glassman

Co-host Cathy Gildenhorn takes on the interviewer role to explore the personal story of her co-host, Beth Glassman. Beth shares her journey of living with a childhood autoimmune disease, offering insights into her diagnosis, its impact on her early life, and how it shaped her perspective as an adult.
 
On Episode #54, Beth interviewed Cathy about her journey to parenthood through infertility and adoption. Now, the roles are reversed as Cathy delves into Beth’s experiences, highlighting the challenges, lessons, and resilience that come from growing up with an autoimmune condition called uveitis. 
 
Topics Covered:
Diagnosis and Early Understanding: Beth’s initial diagnosis, symptoms, and how her healthcare providers and family explained the condition.
Family and Social Dynamics: How her family responded to the diagnosis and whether Beth discussed her condition with friends, teachers, or counselors.
Navigating Childhood and Adolescence: The impact of the disease on her education, sports, and ability to drive.
Living with an Autoimmune Disease: Beth’s thoughts on the potential for passing the condition to her children and how her vision has changed over time.
A Healthy Lifestyle: How her childhood experience influences her approach to health and wellness today.
Advice for Parents: Beth’s guidance for parents raising children with health challenges.
 
Key Moments:
Beth describes how her autoimmune disease affected her vision and how she explains it to others.
The importance of open communication with family, friends, and educators about living with a chronic condition.
Reflections on resilience and the power of support systems during childhood.
 
Connect with Us:
Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. 
 
“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

#54 Family Planning Challenges: Cathy Gildenhorn on Miscarriages and The Miracle of Adoption

In this heartfelt episode of It Happened To Me, we’re turning the microphone inward as co-host Beth Glassman interviews her co-host and dear friend, Cathy Gildenhorn. Cathy shares her deeply personal journey through family planning, recurrent miscarriages, and adoption, offering hope and guidance to listeners navigating similar challenges.
Cathy’s story is one of resilience, love, and the transformative power of creating a family through adoption. From the emotional toll of miscarriages and ectopic pregnancies to the joy of welcoming her children into her life, Cathy provides an honest and inspiring look at her path to motherhood.
Topics Covered:
The emotional and physical challenges of recurrent pregnancy loss (miscarriages) 
Understanding ectopic pregnancies and the medical procedures involved
The role of hormones in fertility treatments and their potential health risks
Deciding to pursue adoption: expectations, processes, and challenges
Choosing an adoption agency and navigating the legal requirements
Sharing adoption stories with children and discussing birth parents
Reflections on the adoption experience and advice for others
Cathy’s openness and compassion shine through as she discusses how her experiences have shaped her perspective on family and advocacy. Whether you’re considering adoption, struggling with infertility, or simply looking for an inspiring story, this episode is a must-listen.
Resources Mentioned:
Gladney Center for Adoption 
National Council for Adoption
The Barker Adoption Foundation 
It Happened To Me’s Episode #41 Colleen Gioffreda also shares her experience adopting children and helping other kids be placed with families. 
Connect with Us:
Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. 
 
“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

#53 From Journalist to Advocate: Laura Bonnell’s Mission to Support Cystic Fibrosis Families

In this episode of It Happened To Me, co-hosts Beth Glassman and Cathy Gildenhorn sit down with Laura Bonnell, a seasoned journalist with 25 years of experience in Detroit, founded The Bonnell Foundation in 2010 after her daughters, Molly and Emily, were born with cystic fibrosis (CF). Despite having ten siblings between them, Laura and her husband, Joe, had no idea they were carriers of the disease, as no one else in either family had been diagnosed with CF.
Driven by her personal experience and professional expertise, Laura used her platform as a reporter to raise awareness about CF. Before establishing The Bonnell Foundation, she actively raised funds for the Cystic Fibrosis Foundation, participating in the Great Strides Walk fundraisers and speaking at CFF events. Bonnell also organized events like the first Celebrity Softball game with the Detroit Tigers’ wives and launching the "Portraits of Cystic Fibrosis" calendars in 2003—both of which are integral to The Bonnell Foundation's fundraising efforts today. 
Through her foundation, Laura continues to advocate tirelessly for those affected by CF, leveraging her journalistic skills to amplify the cause and support the CF community.
Topics Covered:
Understanding Cystic Fibrosis: What it is, how it affects the body, and the daily medical routines required to manage it.
Personal Journey: Laura’s experience with her daughters’ diagnoses and the challenges her family faced.
Advocacy Through Journalism: How Laura’s skills as a journalist influenced her podcast, Living With Cystic Fibrosis, and her advocacy work.
The Bonnell Foundation: From organizing the first Celebrity Softball game with the Detroit Tigers’ wives to producing the "Portraits of Cystic Fibrosis" calendars, Laura discusses her foundation’s mission and impact.
Challenges and Progress: The evolving landscape of CF treatment, including the life-changing potential of medications like Trikafta.
Community Support: How The Bonnell Foundation helps families navigate life with CF and fosters a sense of connection.
Resources Mentioned:
The Bonnell Foundation
The Bonnell Foundation Facebook
The Bonnell Foundation X
The Bonnell Foundation Instagram
Living With Cystic Fibrosis Podcast
Connect with Us:
 Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. 
 
“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 
 

#52 Adaptive Toys for Kids with Disabilities: Inspiration from Daughter with Rett Syndrome

In this episode of It Happened To Me, we’re honored to welcome Sam Ahlstrom, father to Zoey, a remarkable young girl living with Rett syndrome. Sam shares his family’s journey from diagnosis to advocacy, offering an inspiring look into how they’ve transformed challenges into opportunities for connection and innovation.
Rett syndrome is a rare neurological disorder that impacts nearly every aspect of life, from mobility to communication. Sam recounts his family’s experience navigating this complex condition, from recognizing the early signs to adapting their daily routines. He also discusses the emotional and practical hurdles they faced as parents and how they found strength through community and creativity.
Highlights from the Episode:
What is Rett syndrome? Sam explains the condition and its impact on individuals like Zoey.
The diagnostic journey: How Sam and his wife Sarah discovered Zoey’s condition and adapted to the new challenges it brought.
Creating connection during isolation: The inspiration behind the pRETTy happy. podcast, which became a lifeline for their family and others during the pandemic.
Innovative solutions for complex needs: Sam shares the mission of pRETTy happy. place, the company he and Sarah founded to develop adaptive equipment and toys that bring joy and independence to individuals with complex medical needs.
Building a community: Sam reflects on the importance of connection and support for families navigating rare diseases like Rett syndrome.
Key Takeaways:
The power of resilience: How Sam’s family turned challenges into opportunities for advocacy and innovation.
The importance of community: Building connections with others who understand the journey can make all the difference.
Creativity in action: How pRETTy happy. place is making life easier and more joyful for families like theirs.
Resources:
Listen to the pRETTy happy podcast
Check out pRETTy happy place’s shop
pRetty happy place’s Ep 23 and Ep 24 with Colleen English 
 
Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. 
 
“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

#51 Niemann-Pick Type C: Understanding Symptoms, Genetics, and New Treatments

In this episode of It Happened To Me, we dive into the world of Niemann-Pick Type C (NPC), a rare genetic condition that affects fewer than 1,000 people in the United States. NPC is a progressive disorder impacting the brain, nerves, and major organs, often referred to as "childhood Alzheimer’s" due to its neurological effects.
Our guests bring both personal and professional expertise to the conversation:
Barbara Lazarus is the mother of two adult sons (now in their 30s), who have Niemann-Pick Type C disease.  David is taking Myplyffa, through an expanded access program.  Both David and her brother Daniel have been seen at UCSF Benioff Oakland Children’s Hospital in the Bay Area of California.  She is a knowledgeable patient advocate of NPC. 
Dr. Caroline Hastings is a Pediatric Hematologist Oncologist and Professor of Pediatrics at UCSF Benioff Children's Hospital Oakland. In addition to her specialization in pediatric cancer and blood diseases, including a focus on tumors of the brain and spinal cord, her clinical and academic interests have focused on children and adults with rare lysosomal storage diseases. Her particular area of expertise and interest is in Niemann-Pick Type C disease, a rare debilitating genetic disease that until now has been elusive to a therapeutic intervention. She has been involved in developing new drugs and treatment strategies with the hope to improve quality of life and longevity for these patients.C.
Together, they provide a comprehensive look at NPC, from its symptoms and genetic causes to the challenges of diagnosis and the hope brought by new FDA-approved treatments like Miplyffa.
Topics Discussed:
How Niemann-Pick Type C affects the body.
Early signs, symptoms, and progression of NPC in children and adults.
The genetics of NPC and its inheritance patterns.
The challenges of diagnosing such a rare condition and the role of genetic counseling.
Insights into the newly FDA-approved treatment, Miplyffa, and its impact on patients like Barbara’s son David.
The importance of specialized medical centers for NPC care and the role of advocacy and community support.
Key Takeaways:
NPC is caused by mutations in the NPC1 and NPC2 genes, leading to the buildup of cholesterol and lipids in cells.
Early diagnosis and specialized care are crucial for managing the condition and accessing treatments.
The approval of Miplyffa marks a significant milestone, offering new hope for families affected by NPC.
Resources Mentioned:
UCSF Benioff Oakland Children’s Hospital Neurology Center
National Niemann Pick Disease Foundation
Information on FDA-approved treatments like Miplyffa
Connect with Us:
Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. 
 
“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 
 

#50 Neuromuscular Neurology Explained: Symptoms, Treatments, and Advances with Dr. Bucelli

To celebrate our 50th episode we are honored to welcome Dr. Robert Bucelli on the show. He is a leading expert in neuromuscular neurology and a dedicated advocate for advancing treatments for neuromuscular disorders. 
In this episode, Dr. Bucelli shares his wealth of knowledge on neuromuscular neurology, exploring topics such as:
What neuromuscular neurology entails and who is affected.
The role of genetics in diagnosing and treating neuromuscular disorders.
Common symptoms, risk factors, and diagnostic approaches.
How therapies like physical and occupational therapy play a role in management.
Lifestyle modifications, including diet and exercise, to minimize risk.
The latest advancements in research and treatment, including ASO therapy.
Strategies for coping with the challenges of living with neuromuscular conditions.
Dr. Bucelli has been a practicing neurologist at the ALS Clinic since 2011. He is an Associate Professor of Neurology at the Washington University School of Medicine in St. Louis where he serves as the Site Principal Investigator on several clinical studies relating to ALS.
 
After graduating summa cum laude from Canisius College in Buffalo, New York with a degree in biology, Dr. Bucelli went on to receive his medical degree and PhD from the State University of New York at Buffalo as part of the Medical Scientist Training Program. He then completed an internship in internal medicine and postgraduate residency in neurology at Barnes-Jewish Hospital and the Washington University School of Medicine, followed by a postgraduate Clinical Fellowship Training Program in the Department of Neurology’s Neuromuscular Section, also at Barnes-Jewish and Washington University. He is also a graduate of the Washington University and Barnes-Jewish Hospital Academic Medical Leadership Program for Physicians and Scientists.
 
Dr. Bucelli is expert in diagnosing and treating neuromuscular disorders including amyotrophic lateral sclerosis. He also reads and interprets muscle and nerve biopsies to aid in the diagnostic evaluations of patients seen at Washington University and many additional outside institutions. Dr. Bucelli’s clinical expertise guides exemplary multidisciplinary ALS care in the neuromuscular clinic. His skill in delivering drugs to the fluid surrounding the spinal cord has enabled Dr. Bucelli’s and Washington University’s leadership in trials using to turn off the production of harmful genes that cause ALS.
 
Dr. Bucelli has received numerous awards for excellence in teaching and clinical work at Washington University. He is a five-time recipient of the Eliasson Award for Teaching Excellence and has authored over 40 peer-reviewed manuscripts. He is a frequently invited guest lecturer and presenter at regional and national conferences.
 
Stay tuned for the next new episode of “It Happened To Me” in the New Year on January 6th, 2025! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. 
 
“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 
 

#49 Living with NMOSD: Alex Brito's Journey of Resilience and Advocacy

In this inspiring episode of It Happened To Me, hosts Cathy and Beth sit down with Alex Brito, a remarkable advocate in the rare disease community and one of the first 100 individuals diagnosed with neuromyelitis optica spectrum disorder (NMOSD). NMOSD is a rare neurological disease that affects an estimated 6,000 Americans, causing severe and unpredictable relapses that can lead to vision loss, chronic pain, and paralysis.
Alex shares her journey, from the challenges of misdiagnosis and temporary paralysis to her empowering outlook on life with NMOSD—she affectionately refers to the condition as “her bestie.” Alex’s dedication to advocating for individuals with disabilities is evident in her work teaching adaptive technology to those with vision loss. Her incredible resilience is matched by her active lifestyle, which includes powerlifting and earning the distinction of being the first blind woman to achieve a yellow belt in Krav Maga.
Listeners will also learn about Alexion's short film, Rare Connections in NMOSD (Accessible Version), which highlights Alex’s story and helps raise awareness about this rare disease.
Key Takeaways:
What is NMOSD, its symptoms, and the challenges in diagnosing this rare condition.
Alex’s personal journey with NMOSD, including vision loss, paralysis, and finding strength in adversity.
The importance of adaptive technology and how Alex empowers individuals with vision loss.
Alex’s inspiring accomplishments as a powerlifter and martial artist.
Insights into Alexion’s short film Rare Connections in NMOSD and its impact on awareness and advocacy.
Resources Mentioned in This Episode:
Watch Alexion's short film, Rare Connections in NMOSD here
Alex mentioned using JAWS, a screen reading program for those with vision difficulties
Support organizations for NMOSD that Alex recommends in the episode are The Guthy-Jackson Foundation and The Sumaria Foundation
Learn more about NMOSD through the organization NMOSD Won’t Stop Me 
Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. 
 
“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

#48 Sudden Cardiac Death with The Dressmaker’s Mirror’s Dr. Susan Liebman

In this episode of It Happened To Me, we are honored to speak with Dr. Susan W. Liebman, a trailblazing molecular geneticist whose work has revolutionized our understanding of protein misfolding diseases such as ALS and Alzheimer’s. Dr. Liebman has spent her career using yeast as a model organism to uncover the mechanisms behind these diseases, advancing the field of molecular genetics.  With over 100 publications in leading journals, including Nature, Science, and Cell, and more than $13 million in research funding, her contributions to the field are substantial. Susan began her scientific journey as one of MIT’s early female undergraduates (B.S. 1968) and went on to earn advanced degrees from Harvard (M.S. 1969) and the University of Rochester (Ph.D. 1974) medical schools. In addition to her research, she taught genetics to undergraduate and graduate students for more than 35 years.
 
Dr. Liebman joins us to discuss her newly released book, “The Dressmaker’s Mirror: Sudden Death, Genetics, and a Jewish Family’s Secret”. The book delves into her family’s journey of uncovering a previously unknown heart disease gene, blending scientific discovery with a deeply personal narrative of love, loss, and resilience.  
 
Key Topics Discussed in This Episode:
- The Discovery of a Genetic Mutation: Dr. Liebman shares how the sudden passing of her niece led to the identification of a deadly mutation in her family and how this discovery has impacted their lives.  
- Understanding Genetic Risks: Insights into the FLNC gene, its role in cardiomyopathy, and how carriers can manage their health.  
- The Role of Genetic Testing and Counseling: How family history and genetic counselors play pivotal roles in guiding families through difficult medical decisions.  
- Barriers to Genetic Testing: Challenges in accessing cardiomyopathy genetic testing and how healthcare systems can address these issues.  
- Balancing Science and Faith: Navigating religious beliefs and social stigmas while providing potentially life-saving medical care.  
- Population-Wide Screening: Ethical and medical implications of screening for genetic mutations prevalent in specific populations, such as Ashkenazi Jews.  
- Inspiring Women in Science: Dr. Liebman reflects on her groundbreaking career as a woman in molecular genetics during an era when the field was male-dominated.  
 
Dr. Liebman’s story is a testament to the power of science, family, and resilience. Through her research and advocacy, she has brought attention to the FLNC gene, which is now recognized by the American College of Medical Genetics (ACMG) as actionable, paving the way for improved cardiac care and genetic testing protocols.  
It Happened To Me Podcast Episodes Referenced:  
#24 Neuro-Ophthalmic Disorders with Dr. Andrew Carey
#27 Prevention of Blindness Society
 
Additional Resources:
The American College of Medical Genetics Actionable Genes List including the FLNC Gene
Dr. Liebman urges families to bank family’s DNA, so it’s available for genetic testing in the future. She specifically recommends Securigene during the interview. 
 
You can win a free copy of “The Dressmaker’s Mirror”! Head over to our Executive Producer’s Kira Dineen’s podcast’s Instagram, X and LinkedIn posts to enter the giveaway. You can also enter the Goodreads giveaway for additional opportunities. Can’t wait to see if you won? Buy a copy of the book through the publisher (with code RLFANDF30) or on Amazon. 
 
You can learn more about the author Dr. Susan Liebman, on her website here. If you are interested in booking her as a speaker check out her Media Kit here, you can reach out to our host Kira Dineen (info@DNAtoday.com) as she is also her Book Launch Agent! 
 
Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. 
 
“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.