The Rare Disorder Podcast
By Shivani Vyas
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
The Rare Disorder PodcastSep 15, 2021
40. Meet an Expert: Wes Michael, President at Rare Patient Voice
Show Notes:
In this episode, I chat with Wes Michael, President at Rare Patient Voice.
Wes Michael, President and Founder of Rare Patient Voice, has been involved in rare and orphan diseases since 1998, interviewing and surveying patients, caregivers, physicians, nurses and advocacy leaders. Wes has more than 40 years experience in marketing research, and more than 20 years in healthcare marketing research.
Rare Patient Voice, LLC provides patients and caregivers with rare diseases an opportunity to voice their opinions through surveys and interviews to improve medical products and services.
While Rare Patient Voice started by focusing on rare diseases, they now welcome patients and caregivers with all medical conditions.
Rare Patient Voice takes an active approach to meet patients at conferences and events. Their phone is always open to members. The more they can engage with patients, the more they can advocate for them and help their voices be heard.
Explore more!
Website: https://rarepatientvoice.com/
LinkedIn: https://www.linkedin.com/company/rare-patient-voice/
See you all next week!
- Shivani Vyas ☺
@raredisorderpod on IG, FB, & Twitter, The Rare Disorder Podcast on LinkedIn
https://linktr.ee/theraredisorderpodcast
39. What's to Come + Meet an Expert: Ben LeNail, Healthcare Investor & Consultant
Show Notes:
In this episode, I chat with Ben LeNail, Healthcare Investor & Consultant.
Ben Lenail, based in Palo Alto CA, has consulted with biotech companies such as Minoryx Therapeutics, Autobahn Therapeutics, and Deep Genomics. Ben is an investor in 15 early-stage healthcare companies with HealthTech Capital. He is a mentor with the Chan Zuckerberg Initiative; and serves on the Board of ALD Connect and the Advisory Board of the UCSF Center for Vulnerable Populations.
Ben has worked in high-tech in Silicon Valley for 30+ years. He’s a graduate of the University of Washington in Seattle WA and Sciences-Po in Paris. Ben’s wife Laurie Yoler has been his partner for three decades.
Explore more!
WSJ Profile: https://www.wsj.com/articles/a-rare-disease-wont-keep-this-mountain-man-off-the-trails-11544875201
Mercury News Profile: https://www.mercurynews.com/2017/11/13/palo-alto-entrepreneur-brings-tech-savvy-to-an-illness-that-hits-home-ald/
Brain & Life Profile: https://www.brainandlife.org/articles/adrenoleukodystrophy-inspires-purpose/
See you all on Saturday!
- Shivani Vyas ☺
@raredisorderpod on IG & Twitter, The Rare Disorder Podcast on LinkedIn
https://linktr.ee/theraredisorderpodcast
38. GA RDAC Update + Meet an Expert: Dr. Terry Jo Bichell, Founder & Director at COMBINEDBrain
Show Notes:
In this episode, I chat with Dr. Terry Jo Bichell, Founder & Director at COMBINEDBrain.
Terry Jo Bichell worked as a documentary filmmaker in the early days of videotape, then became a public health nurse-midwife after filming a difficult birth in West Africa. When her youngest child, Lou, was diagnosed with Angelman syndrome, she switched from midwifery to clinical research on Angelman syndrome. Eventually, she went back to school to earn a PhD in neuroscience from Vanderbilt University in an effort to find treatments for her son. Along the way, she studied gene-environment interactions in Huntington disease as well as circadian aspects of Angelman syndrome and was a columnist for HDBuzz. After graduating, she was the Founding Director of the Angelman Biomarkers and Outcome Measures Alliance until 2018.
Dr. Bichell founded a new non-profit in 2019, COMBINEDBrain (Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders), to assist other rare and ultra-rare neurogenetic disorders with clinical trial preparations.
Explore more!
Website: https://combinedbrain.org/
Instagram: https://www.instagram.com/combinedbrain/
Episode Segments:
Intro, Rare disease fact of the week, Guest interview, Q & A Session, Outro
See you all next week!
- Shivani Vyas ☺
@raredisorderpod on IG & Twitter, The Rare Disorder Podcast on LinkedIn
https://linktr.ee/theraredisorderpodcast
37. Rare Disease Week + Meet a Fighter: Daniel Dry Dock Shockley, Retired Navy & 10-year Hereditary Colon Cancer Warrior
Show Notes:
In this episode, I chat with Daniel Dry Dock Shockley, a retired Navy, a veteran, and a 10 year hereditary colon cancer warrior.
Daniel serves as a member of the University of Michigan Genetic Hereditary Testing (Might) Advisory Board and of the University of Texas Health Center, San Antonio, Texas, where he does live-case presentations for the Genetics in GI Malignancy multidisciplinary annual conferences.
Daniel says that his purpose is to educate the world about Attenuated Familial Adenomatous Polyposis (AFAP) and continuing the legacy of Dr. Henry T. Lynch, who emphasized the importance of early detection in a hope of saving lives.
Right now, Daniel is seeking legislative jurisdiction to designate the last full week of March as Hereditary Colon Cancer Syndrome Awareness Week. It's a daunting task and will take years to accomplish. However, he is “battle tested” and ready to lead the charge!
After three years of collaborating on March 23, 2021, Texas Senator Donna Campbell, M.D., sponsored Daniel’s HCC resolution initiative and presented the resolution on the Senate Floor, during Texas 87th Legislature Session.
Connect with Daniel!
Instagram: instagram.com/dandrydock___
Important Links: https://linktr.ee/Dandrydock
Episode Segments:
- Intro
- Rare disease fact of the week
- Guest interview
- Q & A Session
- Outro
See you all next Saturday!
- Shivani Vyas ☺
@raredisorderpod on IG & Twitter, The Rare Disorder Podcast on LinkedIn
https://linktr.ee/theraredisorderpodcast
36. Welcome Back + Meet an Expert: Beth Nguyen, Founder at Rare Strides & GA NORD Ambassador
The episode we've all been waiting for, and it's finally here! In this episode, I'm so honored to chat with Beth Nguyen. Beth is the Managing Director; Founding Partner, and President of Rare STRIDES.
Beth is a seasoned registered nurse with a diverse background in critical care, transplant, and emergency room; Honored Atlanta AJC Nurse of the Year Nominee three years consecutively for excellence in bedside care; Serves as the volunteer Georgia Ambassador for the National Organization for Rare Disorders; Led efforts to establish the Georgia Rare Disease Advisory Council; Leader of Annual Rare Disease Day events in Georgia; Founder of Worldwide Syringomyelia & Chiari Task Force; a 501c3 nonprofit; Founder of Rare STRIDES; Developed the first Rare Multidisciplinary Rare Disease Model of Care, Authored numerous published articles and a book including “What is the Purpose of Collaboration and Continuity of Care”, “Beyond Syringomyelia”, and was the Recipient of the 2017 Rare Impact Awards in Washington, DC.
Beth’s humbling and often difficult personal experiences with rare as a patient, medical professional and rare leader empowered her to give back to those with unmet needs in the rare community. She is leveraging wisdom gained over the years through first-hand experience as a powerhouse of knowledge to help drive progress in all areas of care coordination and direct medical care in the field of rare diseases. She is fiercely devoted to empowering healthcare teams and patients with groundbreaking technology that will promote patient safety, prevent complications, advance care coordination, deliver vetted services, streamline models of care, and set a new standard for excellent medical care across all disciplines for men, women and children with rare diseases.
Favorite quote: “Rather, ten times, die in the surf, heralding the way to a new world, than stand idly on the shore.” Florence Nightingale
***note: in this episode, I mentioned that Rare STRIDES is a non-profit organization. Instead, it is an organization that is passionate about giving back to fund patient programs and continued innovation for children and adults with rare diseases who deserve excellence in healthcare.
Explore more!
rarestrides.com
@rarestrides
35. Meet an Expert: The Rare Disorder Podcast X Cure Rare Disease ft. Rich Horgan, Founder & President
In this episode, I chat with Rich Horgan, the Founder and President of Cure Rare Disease.
Cure Rare Disease is developing custom therapeutics that are as unique to the individuals they are meant to treat. Their mission is to offer effective, life-saving treatments developed through collaborations with world-renowned researchers and clinicians, and in partnership with our generous donors. Their customized therapeutics are designed specifically for the men and women who continue to fight for their right to live long, full, healthy lives despite having been diagnosed with a rare genetic disorder for which they’ve been told there is no treatment or cure.
Richard Horgan is the Founder and President of Cure Rare Disease. He has a deep passion for reimagining how rare and ultra-rare diseases are treated. With a younger sibling impacted by a rare disease, Rich has a strong interest in accelerating promising treatments for rare diseases. He formed an interdisciplinary collaboration of world-class researchers and clinicians to pioneer the rapid development of customized therapies for rare, genetic diseases. Prior to making his foray into biotech, Rich had extensive experience working in new business development at Corning Incorporated where he led the successful launch of a new product line. He also launched a successful car washing business in New York. He holds a BS from Cornell University where he graduated summa cum laude and an MBA from Harvard Business School where he was awarded the Blavatnik Fellowship for Life Science Entrepreneurship. Rich was recognized by Business Insider as one of ‘30 leaders under 40 transforming healthcare in 2020’ and, most recently, was named on the 2021 Forbes 30 under 30 list.
Learn more about Cure Rare Disease and how to get involved!
Website: https://www.cureraredisease.org/
Instagram: https://www.instagram.com/cureraredisease/
34. Meet a Fighter: Partial Trisomy Of 8q ft. Saida Mahoney
In this episode, I chat with Saida Mahoney, a fighter of Partial Trisomy Of 8q.
Saida Luvenia Mahoney is 25 years old and lives in Oakland, California. She is an author and a proud student at Modesto Junior College, San Joaquin Delta College, and Merced College.
Saida is a performing arts major and creates music, does dance, and performs in theatre. She also does recording arts, songwriting, and acting. Saida is a Pageant Queen and was crowned 2021 California Miss Amazing Queen and was also a finalist at The Miss Amazing Nationals. In addition, she is a athlete for the Special Olympics, Miracle League, and AYSO Soccer. She loves to dance, cheer, and sing.
Saida is a proud rare disease and disability advocate. One of her goals is to transfer to UCLA, UC Irvine, or UC Santa Barbara when she graduates from Modesto Junior College.
Some of her favorite music artists and bands include Don Henley, The Eagles, Justin Bieber, Glenn Frey, Joe Walsh, Timothy B Schmit, KT Oslin, Amy Grant, Vince Gill, The Doobie Brothers, Dolly Parton, Reba McEntire, Martina McBride, Deacon Frey, Lucy Walsh, Katy Perry, Foreigner, Linda Ronstadt, Jackson Browne, James Taylor, Stevie Nicks, Lindsey Buckingham, Fleetwood Mac, Tom Petty, Jack Tempchin, Jojo Siwa, Bob Seger, and more!
Finally, she loves to travel, camp, go to the moves, and help others. Currently, she is getting many projects and foundations starting up regarding her rare disease advocacy!
Keep up with her advocacy journey!
Blog: https://drewsloversmoon.wordpress.com/2021/01/03/my-journey/
Facebook: https://www.facebook.com/OMGWHATSHAPPENINGWITHSAIDA/
Instagram: https://www.instagram.com/drewsloversmoon/
Her very own published book: https://www.wattpad.com/story/259234397?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=DREWSLOVERSMOON&wp_originator=bB2OGyqdMAHwEBepVCAm99f4Qefqwd4PscGeT0WXFc%2Bq%2Bn3zL%2Fpo9avRH92bI09Xz5cc8gX0oIlEn0ArI%2BGF80ihE%2B%2BIEMBCl%2BEy3MPGdbMsZq10l29nMnvVsJcrMq%2Bi
33. Meet a Partner: The Rare Disorder Podcast X Ella Balasa, Patient Advocate, Speaker, and Consultant
In this episode, I chat with Ella Balasa, a Patient Advocate, Speaker, and Consultant.
Ella is passionate about amplifying the patient voice in healthcare.
Having a background in biology, Ella has experienced both sides of the research spectrum - as a patient and a scientist. Examining antibiotic resistant bacteria in the environment, which is the same bacteria that thrive in the lungs of those with CF, her work in the lab intersected with her health. This fueled Ella's interest in involving herself in a research capacity on committees and advisory roles with organizations providing a patient perspective and promoting patient centricity. Simultaneously she developed a passion for writing, sharing her research experiences and introspectively writing about life with a chronic disease.
When Ella became very ill in the winter of 2019 with an exacerbation of the bacteria in her lungs due to CF, these experiences and interactions with researchers gave her the confidence to leverage her voice – and pursue an experimental treatment called phage therapy. Ella sought out and coordinated her treatment directly with researchers at Yale University. Being one of a few patients in the US who had tried this therapy, her experience was documented by the Associated Press. Because of the success of her treatment, Ella wanted to share about her experience to increase visibility for a viable alternative for other patients facing drug resistant infections. The exposure provided a platform from which Ella established herself as a patient advocate, publishing her experience, empowering other patients also battling infection, and inspiring the research community in further pursuit of phage research.
Since then, Ella has spoken publicly at various conferences, congressional meetings, the Milken Institute, and the FDA about the need for the development of novel therapies for the treatment of antibiotic-resistant infections. Ella has been published in medical journals, she is a patient reviewer for BMJ journal, and on the board of directors of the US Adult CF Association, a CF non-profit committed to educating and supporting the CF community. Ella believes that understanding the patient experience is vital to healthcare companies, researchers, and initiatives and receiving this information through solution focused patient advocates facilitates both the disease community and all other stakeholders to advance medical progress together.
Learn more about Ella & her work!
Website: https://www.ellabalasa.com/
Instagram: https://www.instagram.com/ellabalasaadvocacy/
32. Meet an Expert: The Rare Disorder Podcast X Patients Rising ft. Terry Wilcox, CEO
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/
31. Meet a Fighter: Familial Adenomatous Polyposis & Short Bowel Syndrome ft. Jenny Jones
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
30. Meet an Expert: The Rare Disorder Podcast X Global Genes ft. Parvathy Krishnan, Foundation Alliance Manager
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/
29. Meet a Partner: The Rare Disorder Podcast X YARR ft. Courtney Felle, Patient Engagement Fellow
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. Meet an Expert: The Rare Disorder Podcast X Georgia Bio ft. Maria Thacker-Goethe, CEO
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.
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.
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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☺
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/
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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 ☺
25. Meet an Expert: The Rare Disorder Podcast X Rare Disease Innovation Institute ft. Tara Britt, CEO
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/
24. Meet a Partner: The Rare Disorder Podcast X R is for Rare ft. Annie Watson, Host
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
23. Meet a Partner: The Rare Disorder Podcast X Our Odyssey ft. Anna Laurent, Head of Programs
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_/
22. Meet a Partner: The Rare Disorder Podcast X Emory University JScreen ft. Melanie Hardy, Genetic Counselor
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
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/
20. Meet a Partner: The Rare Disorder Podcast X AllStripes ft. Erin Smith, Patient Engagement Manager
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. Meet a Fighter: SLC6A1 ft. Amber & Maxwell Freed
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/
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
17. Meet a Partner: The Rare Disorder Podcast X The Disorder Channel ft. Daniel DeFabio, Co-Founder
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/
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
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/
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/
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!
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
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!
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/
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/
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
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!
Rifa is an avid food blogger, a finance enthusiast, and a rare disease advocate.
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/
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
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/
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/
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
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/