All Access DNA

Tortured Hope: What is it like growing up at risk for Huntington’s Disease?

Lori Jones shares her personal journey with Huntington's disease, exploring its symptoms, family impact, and the importance of community and research. Lori shares with us insights into living with risk, making decisions about testing, and advocating for better understanding and treatment.
 
Keywords: Huntington's disease, genetics, neurodegenerative, family impact, genetic testing, community support, research, memoir, advocacy
 
Key Topics:
Genetic inheritance and risk of Huntington's disease
Family impact and personal stories of living with HD
The importance of community, support, and advocacy in HD
Current research, clinical trials, and future hope for HD treatments
 
Guest Bio:
Lori Jones has personally experienced the effects of Huntington’s Disease (HD) in her family and was instrumental in starting a Team Hope annual event in her area to raise awareness and support for research and community programs. She has been published in the Wisconsin HDSA Update Newsletter, and spoken in the public schools about HD, genetics, and presymptomatic testing. She has contributed short stories for Women in High Def by Diane Markins. A storyteller at heart, she regularly writes and speaks about her experiences with HD and many other topics to groups of all ages. Lori has three adult children and lives with her husband Chris in Wisconsin, when they aren’t escaping north to the Upper Peninsula of Michigan. “Spared: A Memoir of Risk and Resolve” is her first book.
 
Resources:
Lori Jones’ Website
Spared: A Memoir of Risk and Resolve
Help 4 HD International
International Huntington Association
Huntington’s Disease Society of America
Information on uniQure
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Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com
Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com
 
Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.
 
The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

What does this genetic diagnosis mean? Living well with uncertainty

In the realm of genetic counseling, understanding and support are crucial for families facing daunting medical news. When I sat down with Anna Chassevent, a seasoned genetic counselor, she shared valuable insights about the importance of walking alongside families during their journeys through uncertain medical terrain. In this post, we’ll explore her thoughts on meaningful communication, the role of personal experience in counseling, and how to foster a supportive environment for families in need.
Key words: genetic counseling, living well, meaning, resilience, uncertainty, patient experience, psychosocial support, healthcare, mental health, genetic diagnosis
 
Key Takeaways:
The importance of walking alongside families through unknowns
Integrating personal lived experience into clinical practice
Making meaning of challenging news and decisions
The role of hope, resilience, and living well
 
Guest Bio:
Anna is a board certified genetic counselor at the Kennedy Krieger Institute, specializing in pediatric neurogenetics. She graduated from The Johns Hopkins/National Institutes of Health Genetic Counseling Training program. She is also an associate professor, guest lecturer, student mentor, and published research author.
She is passionate about supporting families in living well no matter their or their child’s diagnosis through uncovering what is meaningful to them, holding onto their strengths, and recognising their freedom and responsibility amidst life’s unexpected challenges.
Anna has received training in a range of counseling methods and frequently incorporates logotherapy into her practice. In 2020, Anna was nominated by a patient for the esteemed Heart of Genetic Counseling Award.
She is also a cancer survivor and parent to a child with developmental and behavioral delays, which has profoundly shaped how she cares for the families she sees.
 
Resources:
“Man’s Search for Meaning” book by Viktor Frankl
What is logotherapy?
Findageneticcounselor.org to search for a genetic counselor near you
 
Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com
 
Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com
 
Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.
 
The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Therapeutic Abortion Explained: Heartbeat Laws, Genetic Testing, and Hard Decisions

In this conversation, Kate talks to Shannon Wieloch about the complexities surrounding therapeutic abortions, particularly in the context of heartbeat laws and genetic counseling. They explore the emotional and medical implications of these decisions, the role of genetic testing, and the impact of legislation on patient care. Shannon shares her experiences working with patients facing difficult choices in wanted pregnancies, emphasizing the need for compassion and understanding in these situations. 
Keywords: abortion, therapeutic abortion, heartbeat laws, genetic counseling, patient care, emotional support, healthcare legislation, prenatal care, reproductive rights
 
Key Takeaways:
The emotional weight of decisions surrounding pregnancy choices is profound.
Heartbeat laws often prioritize legal definitions over medical realities.
Genetic testing can provide crucial information but is not always necessary.
Patients often face significant emotional and financial burdens when seeking care.
Legislation can complicate access to necessary medical procedures.
Many patients feel isolated in their experiences of making pregnancy decisions.
 
Guest Bio: Shannon M. Wieloch, MS, CGC, is a board-certified genetic counselor with more than 24 years of clinical and industry experience across reproductive, prenatal, infertility, and genomic medicine. She currently serves as Director of Genetic Counseling at Fairfax Cryobank and is the founder of Stork Genetics, LLC, where she provides patient-centered genetic counseling.
Shannon has served in senior clinical, product, and program management roles at Genome Medical, Mayo Clinic, CooperGenomics, and major academic medical centers. She has authored numerous peer-reviewed and professional publications, blog posts, and educational resources, and has regularly contributed to national conferences, podcasts, and professional committees within the National Society of Genetic Counselors.
Here are more resources related to today’s topic:
Links to Shannon’s pages:
https://www.facebook.com/storkgenetic/
https://www.instagram.com/storkgenetics/
https://www.linkedin.com/company/stork-genetics
“What You Need to Know About ‘Fetal Heartbeat’ Bills” by Madison Feller, Elle, published May 7, 2019
“Doctors’ organization: calling abortion bans ‘fetal heartbeat bills’ is misleading” from The Guardian
Center for Reproductive Rights
National Network of Abortion Funds
Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com
 
Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com
 
Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.
 
The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Bonus-Rare Disease & Treatment Delays: Hope for Sanfilippo syndrome

In this heartfelt interview, Abby Milburn shares her journey as a mother of a child with Down syndrome and Sanfilippo syndrome, a rare neurodegenerative disease. She discusses diagnosis challenges, advocacy efforts, and the importance of research and policy changes to support children with rare diseases. 
Sanfilippo syndrome, Down syndrome, rare diseases, medical advocacy, genetic testing, FDA approval, gene therapy, medical research, advocacy, rare pediatric treatments
 
Key Topics:
Sanfilippo syndrome diagnosis and symptoms
Challenges in medical advocacy and policy
The role of genetic testing and family history
Impact of FDA approval process on treatments
Importance of awareness and community support
 
Abby Milburn is a wife and stay at home mom to four children 5 years old and under. Her oldest daughter, Lottie, is extremely unique as she has both Down syndrome and Sanfilippo Syndrome.
Lottie’s Cure Sanfilippo Foundation Page: https://give.curesanfilippofoundation.org/campaign/lottie-milburn-or-fighting-to-cure-sanfilippo/c716615
Instagram and Facebook handle: @letssavelottie
 
Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com
 
Here are more resources related to today’s topic:
Lottie’s Cure Sanfilippo Foundation Page: https://give.curesanfilippofoundation.org/campaign/lottie-milburn-or-fighting-to-cure-sanfilippo/c716615
Cure Sanfilippo Foundation: https://curesanfilippofoundation.org/
Senate Hearing Special Committee on Aging: From Regulator to Roadblock: How FDA Bureaucracy Stifles Innovation
UX111 Gene Therapy for Sanfilippo syndrome type A
Ask Congress to urge the FDA to take swift action on rare disease treatments
 
Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com
 
Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.
 
The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Living with Sickle Cell Disease: Turning Pain into Advocacy

Chronic pain, invisible illness, Black health. In this conversation, Wunmi Bakare shares her profound journey living with sickle cell disease, detailing the challenges and triumphs she faced from childhood through adulthood. She discusses her experience with a stem cell transplant, the impact it had on her life, and the ongoing challenges she navigates post-transplant. Wunmi emphasizes the importance of patient advocacy, the need for compassionate healthcare, and the creation of Sickle Cell Prodigy, an organization aimed at supporting individuals with sickle cell disease and their families. The conversation highlights the resilience of patients and the importance of community support in managing chronic illnesses.
 
Key Takeaways:
Living with sickle cell involves navigating stigma and misunderstanding.
A stem cell transplant can significantly change a patient's life.
Post-transplant, patients still face challenges and pain management.
Advocacy is crucial for patients with invisible illnesses.
Compassionate care from providers can improve patient experiences.
Sickle Cell Prodigy aims to support patients and caregivers alike including Pre=Therapy Warriors and Post-Therapy Survivors.
 
Wunmi Bakare is a multicultural citizen and pioneering advocate in the sickle cell and rare disease community, known for her commitment to inclusion and stigma eradication. With a fervent dedication to advancing awareness and understanding, Bakare leverages both proactive and reactive media engagement to transform perceptions of sickle cell disease. Her lived experience fuels her advocacy and informs her leadership roles on the advisory boards for the National Health, Lung & Blood Institute, the American Board of Medical Specialties, Beam Therapeutics, Vertex Pharmaceuticals, Pfizer, Fulcrum, and Healthful Data as well as her board memberships with the Sickle Cell Knowledge & Information Network, Sickle Cell Disease Partnership, and The Gift of Adoption Fund. 
Diagnosed with the severe HbSS form of sickle cell disease at just 18 months old, Bakare's grueling journey led her to participate in a groundbreaking clinical trial at the NIH, culminating in a successful allogeneic stem cell transplant in 2019. Bakare thrives as the Founder of WBPR Agency working across diverse corporate disciplines and providing strategic media counsel to top brands. In 2020, she launched #SickleCellProdigy, a patient-driven nonprofit organization dedicated to redefining survivorship for individuals living with sickle cell disease who are exploring or recovering from transformative therapies, including bone marrow transplant and gene therapy.
 
Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com
 
Here are more resources related to today’s topic:
Sickle Cell Prodigy website
Though The Genes Podcast
 
Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com
 
Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.
 
The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Should Genetics Be a Routine Part of Primary Care?

Primary Care and Genetics: Bringing DNA Into Everyday Healthcare. Primary care is often the first stop in healthcare—but where does genetics fit in? We unpack what’s realistic, what’s hype, and what patients and clinicians should actually expect. This conversation explores the integration of genetics into primary care, highlighting the importance of genetic testing and counseling in improving patient outcomes. The speakers discuss the evolving role of primary care physicians in addressing genetic health, the need for collaboration with genetic counselors, and the growing awareness among patients regarding genetic testing. They emphasize the necessity of ongoing education and advocacy for genetic professionals within the healthcare system.
 
Key Takeaways:
Genetic testing can aid in preventative care and early diagnosis.
Patients often bring their own genetic testing results to primary care.
Genetic counseling can support primary care physicians in managing genetic concerns.
Integration of genetics into primary care can improve patient outcomes.
Genetic testing is not a one-time event; it may require re-evaluation.
Patients are becoming more informed and proactive about genetic health.
Collaboration between genetic counselors and primary care is essential.
 
Mylynda B. Massart, M.D., Ph.D., is a board-certified Family Medicine physician at UPMC, and associate professor at the University of Pittsburgh.  She currently serves as the founder and Medical Director of the UPMC Primary Care Precision Medicine clinic and as the Associate Director of Clinical Services for the Institute for Precision Medicine.  Dr. Massart is co-director of the HUB Core over Research Inclusivity and Community Partners Core at the Clinical and Translational Science Institute (CSTI).  Her research interests are in developing education in genetics and precision medicine for primary care providers and trainees and being a research catalyst facilitating the inclusion of underrepresented populations in biomedical research.  She teaches residents and medical students in her clinic and at the hospital and serves as medical director for Bethany Hospice.  Currently, Dr. Massart is one of the co-investigators for the All of Us Pennsylvania research project working on community education and engagement. In addition, she is working as a co-investigator to create the local Discovery Biobank at the University of Pittsburgh and developing systems to return precision medicine results to providers and patients.  Dr. Massart leads the Community Engagement Alliance Consultative Resource (CEACR), a partnership between the University of Pittsburgh CTSI and Community-Campus Partnerships for Health.
 
Natasha Berman (she/her) MA, MS, MPH, CGC is a clinical genetic counselor at the UPMC Department of Family Medicine who works within the primary care precision medicine clinic. She provides direct patient care to patients for a variety of indications. She has coauthored multiple textbook chapters covering family medicine genetic topics. Her primary areas of research include improving equitable genetics care.
 
Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com
 
Here are more resources related to today’s topic:
Findageneticcounselor.org to search for a genetic counselor near you
Access to Genetic Counselor Services Act
 
Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com
 
Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.
 
The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Creating Community for Rare Disease Parents

Building support, navigating the emotional journey of having a medically complex child. In this conversation, Madeline Cheney discusses her journey as a parent of a child with a rare genetic condition and the creation of her podcast, The Rare Life. She emphasizes the importance of building a community for parents facing similar challenges, the emotional impact of being a carrier of a genetic condition, and the role of advocacy in medical care. Madeline shares her experiences with grief, resilience, and the need for self-care, while also outlining the future goals of her nonprofit organization to support families in the NICU and beyond.
 
Key Takeaways:
The Rare Life podcast was created to build a community for parents of children with disabilities.
Navigating a rare diagnosis can be overwhelming, but support from others is vital.
Advocacy is essential in medical care for children with disabilities.
Building resilience is a gradual process for parents facing challenges.
 
Madeline is the host and founder of The Rare Life, a nonprofit podcast and community for parents of people with medical complexities and disabilities. She is mom to 10 year old Wendy and 7 year old Kimball who has a rare syndrome. Her experiences navigating medical complexities with zero community inspired the creation of The Rare Life. When she isn't hanging out with her family or working, she loves soaking in a hot bath with a good book or watching an old episode of Murder She Wrote.
 
Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com
 
Here are more resources related to today’s topic:
The Rare Life website and podcast
Remember the Girls - advocating for females impacted by X-linked conditions
 
Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com
 
Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.
 
The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

What's my biological age again? Latest on longevity

Aging, genetics, and lifestyle. In this conversation, Daniel Tausan discusses the concept of longevity, focusing on biological age, biomarkers, and the interplay between genetics and lifestyle. He emphasizes the importance of understanding biological age as a measure of health rather than just chronological age. The discussion covers various biomarkers, the significance of blood tests, and how lifestyle choices impact aging. Daniel also touches on the role of telomeres, lifestyle habits for longevity, and the latest breakthroughs in longevity science. Philosophical perspectives on aging and the future of longevity research are explored, highlighting the importance of quality of life and the need for a cultural shift in how we view aging and death.
 
Key Takeaways:
Biological age is a measure of health, not just chronological age.
Understanding biomarkers can help assess health and aging.
Genetics and lifestyle both play crucial roles in aging.
Telomeres are important but not the sole factor in aging.
Quality of life is essential in discussions about aging.
 
Daniel Tausan holds a graduate degree from the University of British Columbia in Stem Cell Biology with a Bachelor of Science in General Biology. He worked in research in the molecular profiling of exercise, looking into comprehensive blood panels in search of biomarkers for predictive health analytics with Molecular You and UBC’s School of Kinesiology to develop methods for biological age calculation.
 
He spent his early 20s with the Canadian National Waterpolo Team and coached the next generations of athletes to participate in the youth Pan-American games and World Championships. He personally trained clients for general fitness goals and athletic performance and continued to share the biological knowledge of the molecular world from his scientific pursuits.
 
Asthma, allergies and gastrointestinal challenges throughout his early years kept him eager to explore regenerative principles and the healthcare systems. Although the academic and industry surrounding the molecular biological revolution were exploding few professionals were present to help the public interact and integrate with the newfound biological knowledge. With a love for education and working directly with people he stepped away from academics. He launched Timeline Sciences to put “you” on the timeline aligned with your unique genome and goals.
 
Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com
 
Here are more resources related to today’s topic:
Daniel’s website, Timeline Sciences
“Achieving health human longevity: A global grand challenge” Science Translational Medicine journal
“Healthy lifestyle in late-life, longevity genes, and life expectancy among older adults: a 20-year, population-based, prospective cohort study” The Lancet
“The validity of Blue Zones demography: a response to critiques” The Gerontologist
Ageing and health - an article from the World Health Organization
 
Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com
 
Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.
 
The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Replay- A patient and a physician: How is hEDS diagnosed?

Flexibility, pain, and fatigue are part of hypermobility EDS. In this conversation, Dr. Taylor Kerrins discusses Ehlers-Danlos Syndrome (EDS), particularly hypermobile EDS, covering its definition, symptoms, diagnosis, and management strategies. He shares personal experiences with the condition, the challenges of obtaining a diagnosis, and the importance of physical therapy and exercise. The discussion also touches on genetic testing and available support resources for patients. Taylor emphasizes the need for ongoing research and understanding of EDS, highlighting the complexities of the condition and the importance of community support.
 
Key Takeaways:
EDS is a connective tissue disease with various types.
Joint dislocations are common in individuals with hypermobile EDS.
There is no specific genetic test for hypermobile EDS.
Exercise is extremely helpful but must be tailored to the individual..
Support groups provide valuable resources and community for EDS patients.
Ongoing research is essential for understanding EDS better.
 
Dr. Taylor Kerrins is a Clinical Assistant Professor of Medical Genetics & Genomics at the Medical University of South Carolina.
 
Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com
 
Here are more resources related to today’s topic:
The Ehlers Danlos Society
Information on hEDS from the Marfan Society
American Academy of Family Physicians handout from 2021
The Norris Lab at MUSC
 
Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com
 
Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.
 
The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

How do I know if something is safe during pregnancy?

Teratogens. Medications. Infections. Safe in Pregnancy. In this conversation, we explore the safety of exposure to certain things during pregnancy such as alcohol, beauty products, and yes even Tylenol. We learn more about how an agent or exposure is evaluated as being teratogenic as well as resources for pregnant individuals with questions.
 
Key Takeaways:
Teratogens refers to an exposure (drug, chemical, infection, radiation, or substance) that can interfere with growth or development of an embryo or fetus. 
Every pregnancy has a background risk of 3% for birth defects, unrelated to exposures or family history.
The timing, dosage, and other risk factors play a role in the impact of a potential teratogen.
It’s crucial to differentiate between correlation and causation in studies.
Pregnant individuals should consult healthcare providers about medication use.
 
Nevena is a board certified genetic counselor and an assistant professor at the University of South Florida (USF), division of Maternal Fetal Medicine and serves as the Program Coordinator and Teratogen Information Specialist at MotherToBaby Florida. In addition to providing exposure counseling at MTB Florida and USF Exposures Clinic, she provides prenatal and preconception genetic counseling in various clinics across the Tampa Bay area. Nevena is the Associated Program Director and provides both clinical supervision and coursework instruction for students form the USF Genetic Counseling Program. Nevena earned her MS in Genetic Counseling from the University of Texas Health Science Center in Houston in 2012. She is the president elect of Organization of Teratogen Information Services (OTS). The views and opinions shared on the podcast are her own and do not represent those of her employer.
 
Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com
 
Here are more resources related to today’s topic:
Findageneticcounselor.org to search for a genetic counselor near you
Birth Defects Registry & Prevention
Mother to Baby website
Human Teratogens course 
 
Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com
 
Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.
 
The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.