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.

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.

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.

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.

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.

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.

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.

Transgender and gender diverse cancer care, privacy, community safety. On this episode of All Access DNA, we talk to Dr. Mittendorf about hereditary cancer considerations for people who are transgender and gender diverse. We discuss management guidelines, cancer risks and how knowing hereditary cancer risk may inform medical decisions. The conversation also delves into the significant concerns surrounding the privacy of medical data for transgender individuals. It highlights the fear of being identified as trans in medical records and the potential repercussions of such identification, especially in light of recent legal actions involving healthcare providers.

On This Episode We Discuss:

• The ways gender affirming care can be impacted by hereditary cancer risk.
• The effect of gender dysphoria in making medical decisions.
• Hormone therapy (HRT) and cancer risk
• Privacy concerns are heightened for the transgender community.
• Recent instances have raised alarms about data security in healthcare.
• Community safety is a significant concern related to medical data.
• There is a need for better protections for sensitive health information.

Dr. Mittendorf is an interdisciplinary scientist whose current research focuses on translational genomics and cancer care delivery, especially as it impacts populations with reduced access to care. They have extensive experience in genomic evidence synthesis, data modeling, web application development, community-driven research design, implementation science, and genomic applications in care delivery. They have cross-disciplinary training that covers epidemiology, qualitative research, bioethics, and informatics. Their PhD in biochemistry, with a focus on molecular biophysics, gives them a unique foundation to understand the molecular mechanisms at play in the setting of clinical genomics.

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:

• Dr. Mittendorf’s website that includes links to research and resources
• CHESTcare website- CHESTcare stands for Cancer & Hereditary Risk Education & Support for Transgender & Nonbinary Individuals. CHESTcare is a resource for people who have had or are planning “top” surgery (gender-affirming mastectomy) or are taking or planning to take testosterone. Our goal is to empower you to make informed decisions about your health and cancer risk.
• YouTube video on Screening, prevention and gender affirming care for transgender people with mutations
• Hereditary cancer care for transgender and nonbinary people from FORCE
• Episode 6- How accessible is genetic testing? With Deanna Darnes
• Episode 19- Is cancer genetic? With Barry Tong
• Episode 26- Does genetics influence sex and gender? With Kim Zayhowski

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.