Rare Disease = Real Community: Turning Social Media Connections Into Research Partnerships That Drive Precision Medicine Solutions

Rare Disease = Real Community: Turning Social Media Connections Into Research Partnerships That Drive Precision Medicine Solutions

In this episode Kasey Walsh explains how simple social media connections grew into formal research collaborations, a nonprofit, and a patient‑owned data platform, all motivated by her determination to help her daughter Robbie, who was born with an AP-4 hereditary spastic paraplegia (AP‑4 HSP). She has partnered with institutions like Boston Children's Hospital, the Broad Institute, and the University of Cambridge to move AP‑4 from case reports to research action. Kasey co‑founded Cure AP‑4 and created WinSights [https://winsights.life/] to turn caregiver stories into research data that supports precision medicine. Her work helped find biomarkers, reclassify patients once thought to have cerebral palsy, and start drug‑repurposing studies that identified existing FDA‑approved medicines that showed activity in AP‑4 models. She candidly shares their diagnostic journey to a diagnosis, tips for working with clinicians, and how families can help shape translational research. Listeners who face a rare disease diagnosis will learn how to turn lived experience into real‑world evidence and join a community that helps accelerate precision medicine therapies for children and adults. Key takeaways: - Build community: online groups can lead to treatment opportunities and practical information to make daily life better for a family managing a rare disease. - Own your data: patient‑stewarded health information powers precision medicine studies. - Practical steps: seek genetic testing, connect with specialty centers, and link with advocacy groups (NORD, Global Genes). META DESCRIPTION Looking for hope after a rare disease diagnosis? Hear Kasey Walsh share how her daughter Robbie inspired partnerships with Boston Children's and the University of Cambridge to find treatment for AP-4 hereditary spastic paraplegia (AP-4 HSP). Learn how social media groups became real research teams, and practical steps families can take to find community, resources, and next actions to improve care for rare diseases. We help you learn the language and build confidence to advocate for a precision medicine approach to your health and wellbeing.

INEQUITY KILLS: Access Without Equal Care Drives Preventable Cancer Deaths

EPISODE SUMMARY Rome experienced a career high talking with Dr. Otis W. Brawley, a globally recognized Medical Oncologist and Epidemiologist at the Johns Hopkins Kimmel Cancer Center, about his work to reduce healthcare disparities. Dr Bawley is a former Chief Medical and Scientific Officer of the American Cancer Society, and an author on the recent Report on the Status of Disparities in the United States 2025 [https://pubmed.ncbi.nlm.nih.gov/41400551/]. Rome gets to the heart of why his work has shown that people do not always get the same care inside the health system. Dr Brawley says giving people access to care is not enough. Many patients still get later diagnoses, slower follow‑up, weaker or older treatments, and fewer chances to join clinical trials. These are real, measurable differences caused by provider choices and are at the root of cancer disparities. Key takeaways from this in-depth conversation about disparities: * Care that causes disparities differs in clear ways, including delays in diagnosis and treatment inequity. * Why systemic changes to protocols and measuring clinician adherence beats simple training to deter differential treatment. * Practical solutions like patient navigation and equity metrics to reduce preventable deaths. META DESCRIPTION What if a doctor’s choice—more than the cancer—decides who lives? Dr. Otis W. Brawley, a globally respected voice from the Johns Hopkins Kimmel Cancer Center, showed that black and brown patients often get worse care because doctors make different choices for them: fewer tests, slower follow‑up, less aggressive treatment, or no offer to join clinical trials. These choices come from wrong assumptions about what patients want, limits at busy or underfunded clinics, and they lead to later diagnoses and more deaths in communities of color. We need clear care rules, better tracking of who gets which treatments, and supports like patient navigation so decisions on the quality of care are fair for everyone.

Guardians of the Genome: p53 and the Impact of Li-Fraumeni Syndrome

Journalist Larry Ingrassia [http://www.larryingrassia.com/] speaks candidly with Rome about the years his family spent facing unexplained, early‑onset cancer diagnoses before anyone knew Li‑Fraumeni syndrome existed. He recounts the shock of watching relatives fall ill, the delays in diagnosis, and the sense of powerlessness that followed when no one connected the dots. The lost opportunities for earlier detection and prevention, still weighs heavily in Larry’s work today. As an advocate, he champions routine germline TP53 testing for families with suspicious cancer patterns, pushes for access to specialized surveillance programs, and partners with clinicians to translate genetic results into concrete prevention plans. Larry seeks to spare other families the years of uncertainty his endured and to make early detection and prevention the norm rather than the exception. Listen for these key takeaways from this conversation: * Learn how p53 normally guards the genome, and why inherited p53 mutations dramatically raise cancer risk. * Why unrecognized Li‑Fraumeni syndrome can lead to preventable delays in cancer detection and treatment across generations. * How genetic testing and tailored surveillance can turn a family mystery into a cancer prevention and early‑detection plan. A Fatal Inheritance was named to the 2024 Best Non-Fiction Book list on Amazon! [https://www.amazon.com/b/ref=s9_bw_cg_BOTY23BC_3d1_w?node=17296234011&pf_rd_m=ATVPDKIKX0DER&pf_rd_s=merchandised-search-10&pf_rd_r=SNJ345NGVYRVTTC2EQ8K&pf_rd_t=101&pf_rd_p=b3893904-df7d-4c33-b684-acefc75dc39d&pf_rd_i=17276804011] Learn more from the Li-Fraumeni Syndrome Association [https://www.lfsassociation.org/] META DESCRIPTION What if your family kept getting strange, early cancers and no one could explain why? In this episode, author and journalist Larry Ingrassia tells how Li‑Fraumeni syndrome, a rare inherited change in the TP53 gene, was the missing answer for his family. TP53 makes a protein called p53 that helps fix damaged DNA or tells broken cells to die. When TP53 does not work as it should, people can get many kinds of cancer at a young age. Larry shares how years of confusion and missed chances to find cancer early cost his family time and peace of mind. He explains, in plain words, how a simple genetic test can find the TP53 change and how regular, careful medical checks can help prevent or catch cancer sooner. Our hope is that other families will learn, get tested, and use prevention so fewer people go through what his family did. Learn the language and build the confidence to be an effective advocate for a precision medicine approach to your health!

Precision Medicine Saves Dollars & Makes Sense: How Population Health Screening Can Save Lives for Less

Where did you grow up and what attracted you to a career in medicine? What is precision medicine? This phrase has been used primarily to describe a different approach to cancer care. * tumor profiling – molecular characterization of a person’s cancer cells what drives it * but your POV is prevention, and implementing an pathway to integrate genetics and genomic information into the healthcare ecosystem to be acted upon at different points of care along a patient’s journey When you started to build the program at The Christ Hospital in Cincinnati, how did you decide what you were going to go after? [HerCan testing + PGx] * early detection -- St I-II * prevention – prophylactic surgery * avoid side-effects or drug interactions [adverse events] You must compete for resources. What motivated the hospital to want to invest in this kind of program which does not yield ROI immediately? * Was there pushback? * Who needs to champion this vision and work? What were the results? * # patients tested * people in high-risk programs * money saved on unnecessary procedures or therapy BOD of MADP Alliance for Disease Prevention- Forgot to mention: MADP has rebranded from "Microbiome Alliance for Disease Prevention" to simply "MADP Alliance for Disease Prevention." Founders wanted to focus on Microbiome, but we've dramatically expanded scope :) CDC Chronic Disease fast facts [https://www.cdc.gov/chronic-disease/data-research/facts-stats/index.html] Addressing Chronic Disease Medicare—93% & Medicaid—82% in 2022 – chronic disease spending People with chronic disease use a disproportionate share of health care resources 90% prescription drugs = $4.5 trillion 3-of-every 4 (75%) healthcare dollars spent on people with chronic conditions * Diabetes [https://www.google.com/search?q=Diabetes&rlz=1C5CHFA_enUS608US608&oq=recent+numbers+on+healthcare+spending+on+top+10+chronic+diesases+in+the+US&gs_lcrp=EgZjaHJvbWUyBggAEEUYOTIGCAEQIRgKMgcIAhAhGI8C0gEJNDcxNzhqMGo0qAIAsAIA&sourceid=chrome&ie=UTF-8&mstk=AUtExfDnf-ha8zisHuMdKkVY44nNZfBhYN09uCXhc_0fu62voyA82wONLW_JufNc61we4xSDU9DF7198ZWlqgLNFODVC7tC14Mz3lu8gNDzHBFI9U00vkqJxAwwZEn5EJaCVkCDUUGIXutBYm_9CxfR2wLegJy_9k33hqw4IQxgnJVRvn2U&csui=3&ved=2ahUKEwjMnLH1mdWTAxW1lmoFHbxqHrUQgK4QegQIAxAB]: ~$413 billion (2022) in medical costs and lost productivity. * 38M have diabetes + 98M pre-diabetes * CKD $96 billion * Heart Disease & Stroke $234 Billion/yr 🡺 $2 trillion by 2025 * kills more American than anything (1-in-4 deaths) * HBP $79 billion Employers loss of productivity – people w/top 10 chronic conditions absent/person ea yr = 164M work days lost = $184 billion in lost productivity * Depression – 25.6 days * Cancer 17 days * Respiratory – 15 * Asthma – 12 * Migraines – 11 * Allergies – 8 * Heart Disease – 6 * Arthritis – 6 * Diabetes – 2 * HBP – 1

If a Doctor Can Be Denied Genetic Testing, It Can Happen to Anyone!

In this gripping episode of Genetics for Healthcare, we sit down with Dr. Alexea Gaffney-Adams [https://www.dralexea.com/], an infectious disease specialist and internist who found herself on the wrong side of the medical system she serves. Despite knowing and sharing her family history, as well as her insistence on her own high-risk status, Dr. Alexea was repeatedly denied genetic testing by her own colleagues—a decision that transformed her from a potential "pre-vivor" into a late-stage cancer survivor. This conversation reveals an uncomfortable reality of cancer disparities, illustrating how these gaps in care are created when high-risk patients, particularly Black women, are not offered the genomic tools necessary to prevent disease. It was only after being diagnosed with cancer in both breasts that she finally received the testing that identified her as a PALB2 gene mutation carrier. According to FORCE (Facing Our Risk of Cancer Empowered), a PALB2 mutation significantly increases the lifetime risk for breast cancer—estimated between 33% and 58% by age 70. Furthermore, this variant is linked to increased risks for pancreatic and ovarian cancers, and potentially male breast cancer. Listen for these uber critical learnings: * Don't Let Doctors Be Financial Gatekeepers: Providers often wrongly deny tests based on assumed costs; always demand to know the actual price and consult a certified genetic counselor to determine your true eligibility. * Ask for the data: armed with your family history, ask your doctors “what are the guidelines for testing (or treatment)?” or “what do studies say someone in my condition should do, and why is it better than other options?” You may find they’re not qualified to answer these questions. * Exercise your right to a 2nd opinion: even if you are seeing "top-tier" specialists, you should never feel that questioning them is an act of disrespect. It’s your life! If they’re offended, that should tell you something about them, because they should want what you want in this process. Dr. Alexea’s story is a chilling reminder that even a medical degree cannot always protect a patient from systemic bias and clinical misinformation. Subscribe to the podcast and become your own best advocate for your health! META DESCRIPTION What if your doctor told you "NO" to a test that could have saved you from cancer? Listen as Dr. Alexea, a Black woman and a doctor herself, shares her shocking story. She was wrongly denied genetic testing for breast cancer by her colleagues and eventually was diagnosed with advanced cancer in both breast! This episode explains how this kind of medical mistreatment creates cancer disparities for Black women. Learn about the PALB2 gene mutation she carries and how it increases breast cancer risk. We talk about the critical importance of patient advocacy, learning the language of precision medicine, and having the confidence to push back to get the care you need and deserve. We help you learn the language of precision medicine, and build the confidence you need to be an effective advocate for your health through genetics. LINKS FORCE website: PALB2 Gene Mutations and Cancer Risk [https://www.facingourrisk.org/hereditary-cancer-genes-and-risk/PALB2-risks-prevention-treatment] Dr Alexea on Facebook [https://www.facebook.com/DrAlexea/] Dr Alexea on Instagram [https://www.instagram.com/dralexea/]