The Rare Disorder Podcast

In this episode, I chat with Terry Wilcox, the Founder and Executive Director of Patients Rising and Patients Rising Now. 

Formed in 2015 as a 501(c)3, Patients Rising has developed a significant following of over 110,000 patients and caregivers and has guided more than 25,000 of them on their journeys to advocate for themselves and their loved ones to get the care and treatments they need to live a fulfilling life. Patients Rising Now is a national nonprofit organization dedicated to advocating for the rights of patients with chronic and life-threatening illnesses. We work at community, state and federal levels to activate patients in support of reforms and legislation aimed at advancing patient access to and affordability of healthcare.

A passionate advocate for patients with cancer and other serious diseases, Terry Wilcox is Executive Director of Patients Rising, a non-profit patient education and advocacy organization that helps patients get access to essential diagnostics and the treatments they need.

Inspired by Selma Schimmel, considered by many as the “original” young adult survivor advocate, Terry left a career in Los Angeles in the entertainment industry to join Vital Options International (VOI), a cancer communication, education and advocacy organization Selma launched in 1983 to facilitate a global dialogue on cancer. From 2008 to Selma’s death in May 2014, Terry worked alongside her mentor as creative director of VOI and the supervising producer of a video program called The Group Room that featured discussions with the world’s leading oncologists and cancer researchers.

After Selma’s death, Terry continued to advance Selma’s legacy as VOI’s ExecutiveDirector until August 2015, when she moved to Washington, DC and co-founded Patients Rising with her husband. Now Terry and her team engage the patient community, along with physicians, health policy experts and allied healthcare professions, to develop realistic, solution-oriented discussions so those with life-threatening and chronic diseases will have a voice in shaping policies that will improve access to quality care.

Learn more about Patients Rising and Patients Rising Now and how to get involved!

Websites: https://www.patientsrising.org/ & https://patientsrisingnow.org/ 

Instagram: https://www.instagram.com/patientsrising/ & https://www.instagram.com/patientsrisenow/

In this episode, I interview Jenny Jones, a fighter of Familial Adenomatous Polyposis and Short Bowel Syndrome.

Jenny was diagnosed with the rare, hereditary colon cancer syndrome Familial Adenomatous Polyposis at age 8 and had her first surgery to remove her colon at age 9. After experiencing life-threatening complications, Jenny required 4 more surgeries that year and developed another rare disease - Short Bowel Syndrome as a result. She lived with an ileostomy for 6 years before having it reversed into a Straight Pull Thru and again experienced life-threatening complications. Jenny has been able to surpass all the odds though and went on to earn a Master's Degree and maintains full time employment in addition to her rare disease awareness and advocacy efforts through her blog, Life's a Polyp.

Keep up with her advocacy journey!

Blog: www.LifesaPolyp.com

Youtube: www.Youtube.com/LifesaPolyp

Merch Website: www.CafePress.com/LifesaPolyp

Social Media Handle: LifesaPolyp

In this episode, I chat with Parvathy Krishnan, a rare mom and the Foundation Alliance Manager at Global Genes. Global Genes provides hope for the more than 400 million people affected by rare disease around the globe. They fulfill their mission by helping patients find and build communities, gain access to information and resources, connect to researchers, clinicians, industry, government, and other stakeholders, share data and experiences, stand up, stand out, and become effective advocates on their own behalf.

Parvathy Krishnan earned her MS from Rutgers University, NJ and her clinical training from Mayo Clinic of Health Sciences, Rochester, MN. She has worked as a clinical dietitian at Duke University Medical Center and has gained experience in the nonprofit world from her role as a Patient Engagemen and Advocate in NC.

Parvathy is a speaker, panelist and often serves on national and international efforts to promote patient and caregiver experience. As a mom to two medically complex children, Yash and Ira, Parvathy is passionate in helping others find their voice and message. She loves sunshine, gardening and traveling.

Learn more about Global Genes and how to get involved!

Website: https://globalgenes.org/

Instagram: https://www.instagram.com/globalgenes/

In this episode, I chat with Courtney Felle, a Patient Engagement Fellow at EveryLife Foundation for Rare Diseases.

The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures.

The Young Adult Representatives of RDLA (YARR) are a highly motivated group of rare disease community members between 16 and 30 years old, including patient advocates, siblings, caregivers, and loved ones. The main purpose of YARR is to instill confidence in the next generation of rare disease advocates. We want to ensure that young adults have a growing impact on public policy in the rare space, offer skill-building opportunities to foster growth in each individual’s advocacy journey, and have diverse young adult representation across each state.

YARR members will have opportunities to improve their advocacy skills no matter what level they are at and meet other like-minded young adults who want to make their voices heard.

Courtney Felle (she/they) recently graduated from Kenyon College, where she concentrated in Health, Illness, and Disability Studies. As a person living with multiple chronic conditions and disabilities, including hypermobile Ehlers-Danlos syndrome, they are passionate about patient-advocate organizing, health equity, diagnostic processes, and disability justice. Previously, they interned with the American Association for People with Disabilities, the Administration for Community Living in HHS, and the Anthem, Inc. Disability Policy Engagement Team, and they co-organized student initiatives around accessibility, LGBTQ+ rights, and student workers’ justice. In their free time, they enjoy crocheting, drinking too much tea, and taking long road trips.

Follow YARR on Instagram: https://www.instagram.com/hearusyarr/

Become a YARR Member: https://everylifefoundation.org/young-adult-representatives/

In this episode, I chat with Maria Thacker-Goethe, the CEO of Georgia Bio. 

Maria Thacker-Goethe has more than 13 years of experience in non-profit management and development. She was appointed president and CEO for Georgia Bio and the Georgia BioEd Institute in February 2019. Maria has helped build the organization into one of the top state bioscience and medtech associations through her community outreach and engagement, member development, and leadership on various special projects and programs to increase community connections and resources. Additionally, she had been responsible for conceiving, developing and executing a comprehensive internal and external communications strategy.

In addition to her work with Georgia Bio, Maria is Executive Director of the Georgia Global Health Alliance which strives to advance global health equity by promoting and facilitating collaboration amongst business, academia, non-profits and government organizations within Georgia and linking them with partners in the US and other countries. Officially launched in late 2016, GGHA is working with the global health community in Georgia, local community business leaders, and national partners to develop strategy and organize the sector to embrace collaboration and speak with a collective voice. GGHA is a lead partner along with the Metro Atlanta Chamber and Deloitte for the Global Health ATL campaign. GGHA is housed within Georgia Bio.

Maria has a diverse background including environmental health, women’s health and health communications and marketing. Prior to joining Georgia Bio, Maria participated in a fellowship at Centers for Disease Control & Prevention/Agency for Toxic Substances and Disease Registry in environmental investigations, working closely with the National Center of Environmental Health in Chemical Demilitarization.

Maria serves as a board member of the CJD Foundation, the Southeast Life Sciences Association, the Council of State Bioscience Associations, the Coalition of State Bioscience Institutes, and the Kennesaw State University Research and Service Foundation. She is a 2019 recipient of the Atlanta Business Chronicle’s 40 Under 40 Award for career achievements and having demonstrated social responsibility; 2019 recipient of the Metro Atlanta Chamber Phoenix Award for her role as an ambassador for life sciences and global health in the state of Georgia; and 2009 recipient of the Power 30 Under 30 Award for professional and community excellence.

Maria received her Master in Public Health in health education/communication, and maternal and child health from Tulane School of Public Health and Tropical Medicine, and her Bachelor of Arts in Environmental Studies from Sweet Briar College. Additionally, Maria has volunteered for over 10 years with the Junior League of Atlanta/La Amistad Estrellitas program which works to empower Latina teens. When she is not busy working or volunteering, she spends her time with her daughter Cecilia and husband Patrick.

In this episode, I chat with Dr. Sarah McCool, who is a Clinical Associate Professor and Director of Undergraduate Programs at the School of Public Health at Georgia State University. In this podcast, Dr. McCool discusses various projects she has completed, causes she is passionate about, her extensive background and experience, and much more! 

Dr. McCool has worked in global health in various capacities since 2010. She most recently worked to support a United States Agency for International Development (USAID)- funded child protection/anti-trafficking project in Haiti. She has worked extensively in the area of tuberculosis surveillance and prevention in Asia. She completed a USAID Research & Development fellowship in Indonesia and consulted for a Fortune 500 company on methods for reducing tuberculosis incidence among garment factory workers in South Asia. Dr. McCool was previously the Executive Director of a Haiti-based NGO that provides primary care to the rural southwest population. She has lived in Singapore, Indonesia and Haiti and has studied and learned—to varying degrees—French, Haitian Creole, Bahasa Indonesia and BCS (Bosnian, Croatian and Serbian) as a U.S. Department of State Critical Languages Scholar.

She continues to work with the Good Birth Network, a global network of birthing homes in more than 30 countries. She also initiated and currently facilitates the partnership between Georgia State University and the United Nations Population Fund (UNFPA).

Her research interests include collective action among global health stakeholders and maternal health. She is currently researching collective action between global health organizational stakeholders during the 2014-2016 West Africa Ebola epidemic.

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Hope you all enjoyed this one; See you on Wednesday for a new episode!

In the meantime, keep up to date with my podcast and involvement (Lately, I've been speaking at conferences!): https://linktr.ee/theraredisorderpodcast

Shivani Vyas☺

In this episode, I chat with Dr. Monkol Lek, who is an assistant professor of genetics at Yale University, and an avid researcher with his own established lab, the Lek Lab, at Yale Medical School. He is also part of the research team at Cure Rare Disease, an organization with a mission to develop custom therapeutics that are as unique to the individuals they are meant to treat. In this podcast, Dr. Lek discusses what piqued his interest in rare disease research, his extensive background and experience, topics of interest, and much more!

Dr. Lek received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3. Dr. Lek then did his post-doctoral training in Daniel MacArthur’s lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute.

He was the lead author/analyst for the Exome Aggregation Consortium (ExAC) project that was published in Nature 2016. Dr. Lek then went on to lead the NIH funded Broad Center for Mendelian Genomics (CMG) analysis team. As lead analyst, he oversaw the analysis strategy for all major CMG collaborations and organized monthly meetings to foster sharing of new methods and analysis amongst the rare disease community. He also coordinated the data processing and preliminary analysis of NIH Gabriella Miller Kids First (GMKF) cohorts sequenced or reprocessed at the Broad Institute.

Dr. Lek has a strong passion for rare muscle disease research as a patient with Limb Girdle Muscular dystrophy (LGMD2G). During his time in the Broad Institute, he led the exome/genome analysis of MYOSEQ (European cohort of >1000 LGMD patients) and SeqNMD (an international consortium of undiagnosed rare muscle diseases) which has resulted in novel disease gene discovery.

Now, Dr. Lek has his own established lab, the Lek Lab. The Lek lab was established in January 2018 at Yale School of Medicine and is focused on understanding the genetic mechanism of rare diseases that may lead to rational approaches for therapies.

Learn about Cure Rare Disease, an organization Dr. Lek researches for!

Website: https://www.cureraredisease.org/

Instagram: https://www.instagram.com/cureraredisease/

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Hope you all enjoyed this one; See you on Saturday for a new episode! 

In the meantime, keep up to date with my podcast and involvement (Lately, I've been cross-podcasting!): https://linktr.ee/theraredisorderpodcast

Shivani Vyas ☺

In this episode, I chat with Tara Britt, who is the Associate Chair of the North Carolina Rare Disease Advisory Council and Founder and President of the Rare Disease Innovations Institute. Rare Disease Innovations Institute is a global non-profit focused on educating, engaging and equipping the rare disease community. Through policy, tools and data they achieve a higher quality of life, accelerating diagnosis and enabling access and treatment. Tara currently serves as Associate Chair of the North Carolina Rare Disease Advisory Council and Network.  The council was created as a result of co-authoring legislation with a North Carolina patient advocate to create a Rare Disease Advisory Council signed into law, August 2015.

Tara has created a unique rare disease ecosystem within the state that brings together patients, caregivers, academics, clinicians, foundations, industry and any entity in rare disease. 

Through this non-profit and her rare disease network, RDII has developed exclusive toolkits for other states to build upon the learning and success of North Carolina enabling creation of successful councils and unique rare disease networks. The toolkits are state tailored to the unique rare disease population.  RDII also partners with rare disease advocacy groups, academia, foundations, healthcare systems, state and federal government and industry to build disease specific models to support targeted disease populations and the challenges to accessing care and managing their disease.  These models are currently developed in North Carolina and can be modeled globally by the RDII team.

Learn more about RDII!

Website: https://rdii.org/

Instagram: https://www.instagram.com/rdii__org/

In this episode, I chat with Annie Watson, a high school student, aspiring journalist and podcaster who has a rare sleep disorder called narcolepsy. She was diagnosed at 6 years old, and finally stepped into the rare disease community as a freshman in high school. She has been involved with Narcolepsy Network since 2018, and started her podcast, R is for Rare, in January 2021. She writes for her high school newspaper, works on set construction for her high school musicals, and is hoping to study journalism and political science in college next year.

Listen to her podcast, and follow along on her advocacy journey!

Apple Podcasts: https://podcasts.apple.com/us/podcast/r-is-for-rare/id1547442737

Spotify: https://open.spotify.com/show/1r3U5ahuNCIzPlxqzKvbmS?si=Dh0hsHVWR0SAX8wqD3qqrg&dl_branch=1

Instagram: https://www.instagram.com/risforrarepodcast/?hl=en

In this episode, I chat with Anna Laurent, who is the Head of Programs and Initiatives at Our Odyssey, an organization which aims to connect young adults impacted by a rare or chronic condition with social and emotional support in the hope of improving their quality of life. Our Odyssey's vision is to establish a national organization with a platform that empowers, educates, and connects young adults experiencing health challenges. After becoming involved in numerous patient advocacy organizations, she found a lack of resources supporting young adults and this ignited her passion for uplifting the needs and voices of young adults. Anna has lobbied on Capitol Hill leading a team of Kentuckians advocating for vital rare disease and healthcare legislation. The culmination of this work led to Anna becoming the Head of Programs and Initiatives at Our Odyssey, an organization connecting young adults impacted by rare or chronic conditions with social and emotional support in the hope of improving their quality of life. She is a powerful advocate, educator, and speaker and plans to continue advocating for years to come!

Anna, herself, battles Alagille syndrome, an inherited condition in which bile builds up in the liver because there are too few bile ducts to drain the bile, thus resulting in liver damage. She is deeply involved in advocacy efforts and strives to bring awareness to this rare condition. 

Learn more about Our Odyssey and get involved!

Website: https://ourodyssey.org/

Instagram: https://www.instagram.com/_ourodyssey_/