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.