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The Rare Disorder Podcast

The Rare Disorder Podcast

By Shivani Vyas
The Rare Disorder Podcast is a podcast created by Shivani Vyas, a high school senior, young changemaker, and rare disease advocate, dedicated to spreading awareness for rare diseases.

This podcast is divided into 2 main series. In the "Meet a Fighter," Shivani interviews patients and those affected by rare diseases allowing them to share their inspirational stories. In "Meet An Expert/Partner," Shivani interviews public health experts, rare disease organization leaders, rare advocacy leaders, and more!

Check out my other initiatives and platforms:
linktr.ee/theraredisorderpodcast
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20. Meet a Partner: The Rare Disorder Podcast X AllStripes ft. Erin Smith

The Rare Disorder Podcast

20. Meet a Partner: The Rare Disorder Podcast X AllStripes ft. Erin Smith

The Rare Disorder Podcast

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29. Meet a Partner: The Rare Disorder Podcast X YARR ft. Courtney Felle
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/
28:02
October 18, 2021
28. Meet an Expert: The Rare Disorder Podcast X Georgia Bio ft. CEO Maria Thacker-Goethe
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.
18:39
October 7, 2021
27. Meet an Expert: The Rare Disorder Podcast X Dr. Sarah McCool
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. ----- 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☺
16:45
October 3, 2021
26. Meet an Expert: The Rare Disorder Podcast X Dr. Monkol Lek
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/ ----- 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 ☺
52:15
September 15, 2021
25. Meet an Expert: The Rare Disorder Podcast X Rare Disease Innovation Institute ft. CEO Tara Britt
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/
26:00
September 11, 2021
24. Meet a Partner: The Rare Disorder Podcast X R is for Rare ft. Annie Watson
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
50:55
September 10, 2021
23. Meet a Partner: The Rare Disorder Podcast X Our Odyssey ft. Anna Laurent
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_/
35:12
September 8, 2021
22. Meet a Partner: The Rare Disorder Podcast X Emory University JScreen ft. Melanie Hardy
In this episode, I chat with Ms. Hardy, a licensed, certified genetic counselor at JScreen, which is a national-nonprofit offering genetic testing and education. JScreen is a national non-profit public health initiative, based out of the Department of Human Genetics at Emory University, is now offering cancer genetic testing for BRCA and 60 other cancer susceptibility genes. These genes are associated with many types of cancer including breast, ovarian, colorectal, prostate, pancreatic and 30+ others.  The test is accessible 24/7 to all 50 states via an at-home, saliva testing with telehealth genetic counseling. They also do education and screening around reproductive carrier testing for over 200 genetic diseases. Learn more about JScreen and its services! Website: https://jscreen.org/ Instagram: https://instagram.com/getjscreened
47:28
September 6, 2021
21. Meet a Fighter: Freidreich's Ataxia ft. Hasitha Illa
In this episode, I interview Hasitha Illa, who is a fighter of Freidreich's Ataxia. Hasitha was diagnosed with a super rare disease called Friedreich's Ataxia. This is a genetic, progressive, neurodegenerative movement disorder, characterized by unsteady posture, frequent falling, and progressive difficulty of walking due to impaired ability to coordinate voluntary movements. This traumatic experience has made her into a stronger and a positive person. She loves to write and she is pretty confident on camera. So, she started a blog and a YouTube channel in order to spread awareness on disability related issues and rights! In addition, she has given multiple motivational speeches on stage as well, and hopes to continue to progress and grow in her advocacy journey!  Follow along with her advocacy journey! Instagram: https://www.instagram.com/lifewithhasi/
19:20
August 20, 2021
20. Meet a Partner: The Rare Disorder Podcast X AllStripes ft. Erin Smith
In this episode, I chat with Erin Smith, who is the Senior Patient Engagement Manager at AllStripes. Erin is responsible for running the ambassador program at AllStripes. She discusses what AllStripes does and its mission, ways patients can get involved and advocate for themselves through the ambassador program which she runs, her personal story with rare disease advocacy, and so much more!  AllStripes’ mission is to unlock new treatments for people with rare disease. They are a medical data science company that empowers patients and communities to generate regulatory-ready evidence for drug research in rare disease. About 1 in 10 people have a rare disease, and half are children. As the first and only research platform dedicated to rare diseases, AllStripes makes it easy for patients to contribute to new treatment studies from home. We do the work to collect and analyze your de-identified medical records to help power faster, better drug development for your condition. The name AllStripes was inspired by the official symbol for the rare disease community, the zebra. When we come together and learn from each other’s experiences we can push for better treatments across all rare conditions. Learn more about AllStripes and get involved! Website: https://www.allstripes.com/ Instagram: https://www.instagram.com/allstripes/
19:14
August 17, 2021
19. Meet a Fighter: SLC6A1 ft. Amber & Maxwell Freed
In this episode, I interview Amber, mom of Maxwell, a child with SLC6A1. Amber Freed's 2 year-old son, Maxwell, has a rare genetic neurological disease called SLC6A1. Amber is on a mission to raise $4,000,000 to advance a clinical trial that will cure every child with this disorder and give Maxwell a chance at life. To date, she has raised close to $3,000,000. SLC6A1 is the 10th cause of autism, 6th cause of epilepsy, and plays a major role in psychiatric conditions. She wants to create an impact on a multitude of children. She has started Milestones for Maxwell to raise money towards this cause. SLC6A1 Connect is a patient organization that was formed out of necessity. Her goal is for her organization not to disappear in 5 years, just because a cure is in place. By that time, they will have moved on to curing the next rare disease. SLC6A1's research mindset was formed with that philosophy in mind; They are now in search of novel IP solutions to advance research quickly for their impatient patient group! Learn more about Maxwell's battle with SLC6A1, and about this phenomenal organization! Website: https://slc6a1connect.org/ Instagram: https://www.instagram.com/milestones_for_maxwell/
22:16
July 29, 2021
18. Meet a Fighter: Ehlers-Danlos Syndrome ft. Laura Romano
In this podcast, I interview Laura Romano, who is a fighter of multiple rare diseases! Laura is a 23-year-old recent graduate from Simmons University where they majored in Neuroscience. They are currently working as an assistant teacher in a preschool classroom and will begin a Master’s of Education in Early Childhood Education in January. Laura lives with Classical-like Ehlers Danlos Syndrome, Mast Cell Activation Syndrome, and Small Fiber Neuropathy. Laura has previously volunteered with the Ehlers Danlos Society and the Marfan Foundation. They are a member of the Young Adult Representatives of RDLA and a YARR Leadership Academy graduate. Keep up with her advocacy journey! Linkedin: www.linkedin.com/in/laura-romano-1522ba20a Instagram: https://www.instagram.com/sharingmystripes
20:33
July 26, 2021
17. Meet a Partner: The Rare Disorder Podcast X The Disorder Channel ft. Daniel DeFabio
In this episode, I chat with Daniel DeFabio, a co-founder and co-producer of this film festival and rare awareness event, The Rare Disease Film Festival and The Disorder Channel which features speakers from industry, medical research centers and patient advocates. He also arranged for several private and public screening events around the world of selected films from our festival, often with speakers from our films. At the age of 12 months Daniel’s first child Lucas was diagnosed with the rare disease Menkes Syndrome. After adjusting his expectations of what raising a child might look like Daniel began to tell Lucas’ story with a short documentary. That film led to Daniel co-founding DISORDER: The Rare Disease Film Festival and later The Disorder Channel, both dedicated to spreading awareness for patient families facing any of the more than 7,000 rare diseases. One of Daniel’s stories about Lucas won the 2015 Rare Patient Story Award from Global Genes. His award-winning 12 minute documentary on Menkes Syndrome is narrated by Oscar nominee Mary McDonnell. In 2008 he founded the Ballston Spa Film Festival. He was a pioneer of original content online (now called web series) and co-wrote and co-produced the internet’s first animated series. He has created videos and marketing materials for American Cinematographer, PBS, RightRice, bio-techs, hospitals, most major movies, and more. He is also the Associate Director of Community Engagement at Global Genes, an organization which 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. He leads the implementation of a new social network for those affected by and concerned with rare disease to connect, empower and inspire each. He focuses on teaching others to better communicate their rare disease stories.  Learn more about The Disorder Channel, The Rare Disease Film Festival, and Global Genes, and get involved! Check out their website:  https://www.thedisordercollection.com/ https://www.rarediseasefilmfestival.com/ https://globalgenes.org/ Follow them on Instagram:  https://www.instagram.com/disorderrarediseasefilms/
21:31
July 16, 2021
16. Meet a Fighter: Batten Disease ft. Ali & Joshua Glover
In this episode, I interview Ali, whose son, Joshua, is a young fighter of Batten Disease. Ali Glover is mum to Joshua who was diagnosed with Batten Disease CLN6 in 2020. Every day is a challenge to her family, with a child fighting this horrendous disease - she finds his courage and perseverance through everything particularly amazing and inspiring. Now, Ali has started a Facebook group for those who would like to follow along on Joshua's journey. Here, she shares, the ups, downs, raises awareness, and collects funds. Follow along on her and Joshua's advocacy journey!  Facebook group: https://www.facebook.com/groups/305346063468953
13:37
July 16, 2021
15. Meet a Fighter: Urea Cycle Disorder ft. Lynzi Russell
In this episode, I interview Lynzi, who is a fighter of Urea Cycle Disorder. Lindsey Kizer is a Carolina native from Belmont NC that loves to bake, listen to live music, spend time in her garden and with her husband and rescue pup. She was diagnosed with Narcolepsy at 29 after living with many of the symptoms for over 15 years. After being diagnosed she also was diagnosed with Fibromyalgia and Dysautonomi. She is now sharing her story to help raise awareness so that others do not have to go through the struggles she did. Keep up with her advocacy journey! Instagram: https://www.instagram.com/onceuponad.r.e.m/ Twitter: https://www.twitter.com/onceuponad.r.e.m/
10:50
July 14, 2021
14. Meet a Fighter: Thyroid Cancer ft. Carly Flumer
In this episode, I interview Carly, who is a fighter of Thyroid Cancer. Carly Flumer was diagnosed with stage I papillary thyroid cancer at the age of 27 and then with refractory disease at the age of 31. She received her Master’s degree from Boston University in Health Communication and Bachelor’s from George Mason University in Health Administration and Policy. While being diagnosed with the “C” word at such a young age was a surprise, as it would be to anyone, she found strength, support, and inspiration in sharing her cancer journey on social media. As a result of her health outcome, she looks to advocate for other cancer patients through education, research, and health literacy. Thyroid Cancer is one of the rarest cancers, and affects the thyroid gland which is a butterfly-shaped structure located at the base of the neck. Learn more about this rare cancer, and hear Carly's story! Keep up with her advocacy journey!  Instagram: https://www.instagram.com/carlyflumer/ Twitter: https://www.twitter.com/carlyflumer/
14:07
July 12, 2021
13. Meet a Fighter: Leber Congenital Amaurosis ft. Melissa & Timothy Gagyi
In this Podcast, I interview Melissa, whose son, Timothy, is a young fighter of Leber Congenital Amaurosis. Learn about this rare condition, and hear his story!
11:36
July 12, 2021
12. Meet a Fighter: A Different Narcolepsy Story ft. Lindsey Kizer
In this episode, I interview Lindsey Kizer, a fighter of Narcolepsy. Lindsey Kizer is a Carolina native from Belmont NC that loves to bake, listen to live music, spend time in her garden and with her husband and rescue pup. She was diagnosed with Narcolepsy at 29 after living with many of the symptoms for over 15 years. After being diagnosed she also was diagnosed with Fibromyalgia and Dysautonomi. She is now sharing her story to help raise awareness so that others do not have to go through the struggles she did. Follow along on her advocacy journey! Instagram: https://www.instagram.com/onceuponad.r.e.m/ Twitter: https://www.twitter.com/onceuponadrem
16:28
July 10, 2021
11. Meet a Fighter: "Polygenic Mutational Syndrome of Methylations" ft. Robin Powers
In this Podcast, I interview Robin, who is a fighter of a rare Polygenic Disease, "Polygenic Mutational Syndrome of Methylations." Learn about this rare condition, and hear her story!
26:08
July 10, 2021
10. Meet a Fighter: Generalized Lymphatic Anomaly ft. Leeya Alperin
In this episode, I interview Leeya, who is a fighter of Generalized Lymphatic Anomaly. Leeya is a honest person who at 20 years old, has been through a lot in 5 years. At 15 years old, she went down the path to find out what was wrong. Leeya was diagnosed with Generalized Lymphatic Anomaly (GLA) during the first semester of sophomore year of high school. Since then, her family and her have been on a crazy but incredibly rewarding journey. Rewarding in the fact that they love advocating and Leeya, herself, has found a deep passion for wanting to pursue a career in hospital administration. Follow along on her advocacy journey!  Instagram: https://www.instagram.com/leeyas.story/ TikTok: https://www.tiktok.com/leeyas.story/
15:53
July 6, 2021
9. Meet a Fighter: Short Bowel Syndrome + Intestinal Transplant (Medical PTSD BONUS) ft. Emily Parks
In this episode, I interview Emily, who is a fighter of Short Bowel Syndrome and Intestinal Transplant. Emily Parks is a chronically ill young professional based out of the Washington D.C. area working in behavioral health and patient advocacy. Having been diagnosed with short bowel syndrome in infancy and unable to absorb nutrition orally, she was dependent on Parenteral Nutrition until receiving an isolated small bowel transplant from MedStar Georgetown University Hospital. Combining her expertise in behavioral health with her lived experience of navigating multiple tertiary hospitals firsthand has led her down the path of studying the impact of medical trauma and medical PTSD on patients and their treatment outcomes as well In preparation for a PhD in medical trauma, Emily founded the organization POP!, where she hosts patient lead discussion groups on all things medical PTSD related in an effort to learn what providers need to know about the mental health side of the patient experience. Keep up with her advocacy journey!  Website: popmedicalptsd.org  Instagram: https://www.instagram.com/pop_medicalptsd/
17:27
July 4, 2021
8. Meet a Fighter: Multiple Hereditary Exostoses ft. Marie Dagenais Lewis
In this episode, I interview Marie, who is a fighter of Multiple Hereditary Exostoses. ​Marie D.L. is an artist, motivational speaker, journalist, digital creator, and Patient Advocate Leader that has been in the media for almost a decade, and uses her skills and expertise to help others grow their advocacy or organizations. She is the founder of R.A.R.E. by Marie D.L. and the creator of The R.A.R.E. Community. Through R.A.R.E. and The R.A.R.E. Community, she seeks to empower and spread visual representation of medical conditions. The R.A.R.E. Community is a social networking site she created that is separate from all other social media platforms, and is meant to connect warriors with a chronic, invisible, mental, or rare disease. She made The R.A.R.E. Community to be a safe place for patient advocate leaders who want to meet others with similar conditions in a positive environment, while keeping divisive and harmful topics not related to accessibility out. She offers graphic and other creative services,  AV production, as well as professional collaborations as a way to put a name and face on disability. Her personal advocacy work focuses on sharing the experiences of a disabled woman in the media.   Keep up with her advocacy journey! Instagram: https://www.instagram.com/r.a.r.e.advoc8/ Website: www.rareadvocatesrepresentingeveryone.com
16:01
June 30, 2021
7. Meet a Fighter: Dysgraphia ft. Rifa Rafiq Juvale
In this Podcast, I interview Rifa, who is a fighter of Dysgraphia. Learn about this rare condition, and hear her story!
10:50
June 28, 2021
6. Meet a Fighter: CLOVES Syndrome ft. Lindsey Johnson Edwards
In this episode, I interview Lindsey, who is a fighter of CLOVES Syndrome. Lindsey is a 26 year old CLOVES patient that was initially diagnosed with Klippel Trenaunay Syndrome, another PROS condition. She currently lives in Dallas and is finishing up her Master’s degree in theology. Her interest in theology of suffering and flourishing is rooted in her journey as rare disease patient with recurrent health complications and challenges. She’s an AllStripes ambassador and CLOVES Family Advisory Council member who loves serving the rare disease community. CLOVES Syndrome is an ultrarare condition that is a recently described rare disorder characterized by tissue overgrowth and complex vascular abnormalities. It is extremely rare, only affecting 150 people worldwide. Keep up with her advocacy journey!  Instagram: https://www.instagram.com/edwards_linds/ Twitter: https://www.twitter.com/edwards_linds/ Blog: https://growinginthegroaning.com/
20:39
June 25, 2021
5. Meet a Fighter: Cowden Syndrome ft. David Ross
In this episode, I interview David, who is a fighter of Cowden Syndrome. David Ross is a patient advocate and rare disease male mental mental health collaborator. David's activism began in 2017 when he was diagnosed with a rare disease called Cowden Syndrome due to being given a letter from his mother about getting tested before she passed away due to having the same condition. After a period of coming to terms with this he became committed to raising awareness and supporting others impacted by this condition by helping set up a support group and also applying to join the Pten Foundation International Family Council which looks to helping my rare disease community by raising awareness about Cowden Syndrome. In 2020 he attended 3 virtual Eurordis rare disease schools and is currently on the Findacure mentoring program. His latest project has been to set up rare disease male mental mental health International zoom calls for patients and caregivers and has set up an online support group on facebook for males in 2021.  Some of David's honors have been the following: Find a Cure Mentoring Program (2021-22), Find a Cure Mentoring Program (2020-21), Male Mental Health International Zoom Calls (2020-Present), Eurordis Digital School (2020), Eurordis Summer School (2020), Eurordis Winter School (2020), and Clinical Trail Boston Children's Hospital (2018-19). Follow along on his advocacy journey! Email: mensrarediseasemh@gmail.com Facebook: https://www.facebook.com/groups/991558431661517/
12:08
June 24, 2021
4. Meet a Fighter: Hyperacusis ft. Jemma Rosewater
In this episode, I interview Jemma, who is a fighter of Hyperacusis. Jemma is 17. She has lived with hyperacusis since she was six years old. Jemma also has several other medical conditions, including being legally blind. Growing up, Jemma’s childhood has been very different from most kids. She has been unable to attend social events, go to the store or most public places, listen to music, wash dishes, go on vacation, or even take showers because the noise causes her extreme physical pain and lingering migraines. Her goal is to help raise awareness about my rare condition, hyperacusis and other rare disorders/chronic pain conditions, put in place laws to accommodate those with hyperacusis, and push for more research to be done on hyperacusis. She has started her own organization to bring awareness to Hyperacusis. In addition to advocacy work, she enjoys writing and plans to become a full-time writer/author as a career. Keep up with her advocacy journey! Blog: https://hyperacusisawareness.wordpress.com/ Linktree: https://linktr.ee/Jemma_Rosewater Instagram: https://www.instagram.com/hyperacusis_awareness/
17:19
June 22, 2021
3. Meet a Fighter: 2q37 Deletion Syndrome ft. Megan Freeman
In this episode, I interview Megan, who is a fighter of 2q37 Deletion Syndrome. Megan Freeman started her rare disease journey when she was diagnosed with one at 16, dealing with all of the emotions that come along with having a rare disease and trying to come to terms with it to the best that she can. A little over two years ago, she got introduced to rare disease advocacy when she met some people near and dear to her in the rare disease world. She has designed blank greeting cards with onions, to raise awareness about her condition, as suggested by one of her friends who is an artist. Since then, she has also been on a few podcasts to raise awareness about her very rare disease and to help break stigmas that are associated with having a rare disease along the way.  Keep up with her advocacy journey!  Instagram: https://www.instagram.com/cardc.urator/ Card Website: https://megancardcurator.squarespace.com/
23:04
June 13, 2021
2. Meet a Fighter: Narcolepsy ft. Tara O' Connor
In this episode, I interview Tara, who is a fighter of Narcolepsy Type 2. Tara O'Connor is a volunteer EMT and a firefighter. She is also a full time student in the electroneurodiagnostic technology program. Tara is an auntie and a dog mama as well. She lives with Narcolepsy Type 2 - she was officially diagnosed in 2019, but had many symptoms for 20 years before she was diagnosed. Follow along on her advocacy journey! Instagram: https://www.instagram.com/sleepygal_96/ Facebook: https://www.facebook.com/tara.ann.9699
11:44
June 4, 2021
1. Meet a Fighter: Idiopathic Intracranial Hypertension ft. Jen Roman
In this episode, I chat with Jen Roman, who is a fighter of Idiopathic Intracranial Hypertension. Jen Roman is a 27 year old living with Idiopathic Intracranial Hypertension & Behçets Disease. Instilled with a classic sense of Jersey-grit and a passion for helping others, she was a firefighter/EMT prior to her diagnosis and subsequent disability. After enduring ten brain procedures, Jen utilized her medical knowledge to become an expert, not only on the conditions that impact her, but also the technology that provides critical relief and management to her daily life. She spends most of her time fighting for legislation as a patient advocate, freelance writing, volunteering for multiple organizations, appearing on podcasts, and helping anyone who requires assistance on their medical journey. Jen is also a professional rock vocalist who aspires to bring her unique style and love of performance into her advocacy. Follow along on her advocacy journey! Instagram: https://www.instagram.com/kylo_jen_94/
15:53
May 22, 2021
Welcome to The Rare Disorder Podcast!
Some background of what this Podcast will be about! If you have any questions or concerns, please do not hesitate to reach out to me through theraredisorderpodcast@gmail.com or my Instagram @therdpodcast :)
00:60
June 9, 2020