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R is for Rare
By Annie WatsonHealth & Fitness
R is for Rare episodes
- 32. Myasthenia Gravis ft. Alexis Rodriguez, MG support group founder and father of 3This week's interview is with Alexis Rodriguez, a father of 3, Coca-Cola employee, sound engineer, support group founder, and rare disease patient! (Whew, this man is QUALIFIED!) Alexis has a rare disease called myasthenia gravis (MG), which is a neuromuscular, autoimmune response that attacks nerve impulses on their way to the muscles. This can lead to generalized symptoms, primarily ocular symptoms, or such severe miscommunication between the nervous and muscular systems that a patient is unable to breathe independently.Alexis, after being diagnoses 24 years ago, is so well-versed in MG knowledge and advocacy that calling him an expert is an UNDERSTATEMENT! Since he was diagnosed before the amazing thing we know as Google was founded, he quite literally had to hit the books and learn everything there is to know about MG. He founded a support group for MG patients in Atlanta, where he is from, and has received many accolades doing so, including having the largest MG support group in the state of Georgia.Alexis and I discuss what fatherhood looks like with a rare disease, how much of a game-changer accommodations can be, the reality of geographical advantage when finding specialists, and much more!Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! If you like what you hear, leave a kind rate and review!Follow me on Instagram - @risforrarepodcastMyasthenia Gravis Foundation of America (MGFA) - https://myasthenia.orgMyasthenia Gravis Support Group for Atlanta, GA - http://www.mggeorgia.orgAlexis Rodriguez's feature in The Gainesville Times - https://www.gainesvilletimes.com/life/life-top-stories/buford-man-raises-awareness-about-rare-disorder/Alexis and his wife on Patient Worthy - https://patientworthy.com/2017/05/11/caregiver-mg-etc/1 hr 17 min
- 31. Intestinal Pseudo-Obstruction + The World of Medical PTSD ft. Emily Parks, founder of POP!
This episode features rare disease patient, behavioral health worker, and striving PhD recipient Emily Parks! Based out of Washington, D.C., Emily was diagnosed with myopathic intestinal pseudo-obstruction at a very young age. This rare genetic disorder affects the development of smooth muscle tissue in the intestines, which requires patients to rely on treatments such as PN, or even intestinal transplants. Emily received her intestinal transplant in December of 2020, and has been off of PN since. She founded POP! (stands for "Pissed Off Patients") as a way to create a supportive and educational platform for those who have or think they might have medical PTSD (post-traumatic stress disorder).
We discuss her transplant story, what it's like living with a rare disease in D.C. vs. Boston, ballroom dancing, and much more!
POP! website - https://popmedicalptsd.org
Follow POP! on Instagram - https://www.instagram.com/pop_medicalptsd/?hl=en
POP! Focus group on Facebook - https://www.facebook.com/groups/medicalptsdfocusgroup
If you like what you hear, PLEASE leave a rate and review on Apple and Spotify! And subscribe to R is for Rare wherever you get your podcasts!Follow R is for Rare on Instagram - @risforrarepodcast
56 min - 30. Cystinosis, on the 5th annual Cystinosis Awareness day, ft. Ashley Abedini
This episode is being released today in honor of Cystinosis Awareness Day today!
Today's *second* episode features Ashley Abedini, owner of a social media and food marketing business, who has cystinosis. Cystinosis is a rare genetic disorder that affects a patient's metabolic processes, and can especially target the kidneys and muscles. It is a condition that leads to an overproduction of the amino acid cystine. Both Ashley and her older sister have this condition, and this condition is recessive. If a condition is recessive, then both parents must be carriers of the gene to pass it down to future generations of children.In today's episode, Ashley and I discuss the uniqueness and importance of sisterhood, what awareness means to Ashley, how fascinated we are in social media's ways of educating the public about disabilities, the Affordable Care Act, and much more!
Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And, if you love what you're hearing, LET ME KNOW by leaving a review!!
Follow me on Instagram - @risforrarepodcast
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Cystinosis Research Network website - https://cystinosis.org
Follow Cystinosis Research Network on Instagram - https://www.instagram.com/cystinosisresearchnetwork/
Follow Cystinosis Research Network on Facebook - https://www.facebook.com/CystinosisResearch
Follow Cystinosis Research Network on Twitter - https://twitter.com/CystinosisCRN
Subscribe to Cystinosis Research Network on YouTube - https://www.youtube.com/channel/UC3BCCVrDmY6M7ZKfUeBmOYQ
55 min - 29. Challenging the paradigm & treating T-regulatory cells with Dr. Howard Berman, CEO of Coya Therapeutics
In today's episode, I'm talking with Dr. Howard Berman, the Chief Executive Officer of Coya Therapeutics, which focuses on therapies and treatments of conditions linked to T-regulatory cells ("T-reg cells"). Right now, his team is in Phase 2B of a clinical trial for a treatment that would dramatically help patients suffering from ALS (Lou Gehrig's Disease). Howard and I discuss what on earth T-reg cells are, what he hopes to accomplish in his job at Coya, what's next for the company, and much more!
Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you listen to podcasts! And, if you LOVE the show, be sure to leave a review!!
Follow me on Instagram - @risforrarepodcast
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More about Dr. Howard - With over 18 years of entrepreneurial and industry experience, Dr. Berman has leveraged his past working at the interplay of science and business to bring multiple oncology drugs and therapies to market. His past achievements with AbbVie, Novartis, Eli Lilly, and MorphoSys have prepared him to lead Coya Therapeutics.
Coya Therapeutics online -- https://www.coyatherapeutics.com
43 min - IMPORTANT UPDATES
Hello everyone! Long time, no see! It's been three months since my last episodes, but I have this + two new episodes coming out today. That and some restructuring are all included in this short 5 minute R is for Rare Update episode!!
Follow me on Instagram - @risforrarepodcast
Make sure you are subscribed to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts!
6 min - 28. LIVMARLI + Rare Liver Conditions ft. Chris Peetz, CEO of Mirum PharmaceuticalsThis week's episode is a very exciting interview with Chris Peetz, CEO of Mirum Pharmaceuticals! Mirum helps create drugs and treatments for rare liver conditions, including Alagille Syndrome, progressive familial intrahepatic cholestasis (PFIC) and biliary atresia. Mirum just had an exciting breakthrough with the approval of their drug LIVMARLI, which treats the chronic itch that many ALGS patients suffer from. Chris and I talked a lot about LIVMARLI and where Mirum is taking this success, the logistics of drug approval overseas, how Chris started at Mirum, and much much more!-------A little bit more about Chris Peetz:Chris Peetz is a co-founder of Mirum and serves as president and chief executive officer.Chris has been an entrepreneur-in-residence at Frazier Healthcare Partners since May 2017. Prior to joining Mirum, Chris served as the chief executive officer of Flashlight Therapeutics, Inc. From May 2014 to December 2016, he served as chief financial officer and head of corporate development at Tobira, which was acquired by Allergan plc, in November 2016. Prior to joining Tobira, Chris served as vice president, finance and corporate development of Jennerex Biotherapeutics. Prior to Jennerex, Chris held various positions at Onyx Pharmaceuticals, Inc. (now Amgen Inc.), including corporate strategy, marketing, product lifecycle management, and financial planning. Prior to Onyx, Chris provided merger and acquisition advisory services at LaSalle Corporate Finance, a part of ABN AMRO, and held positions at Abgenix Inc. and Solazyme Inc. He also serves as a member of the board of directors of Alpine Immune Sciences, Inc., a public immunotherapy company, since April 2018.Chris received an M.B.A. from Stanford Graduate School of Business and a B.S.B.A. in Finance, International Business and French from Washington University in St. Louis.-------Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts!Follow me on Instagram -- https://www.instagram.com/risforrarepodcast/?hl=enQuestions? Want to be a guest on the podcast? Email me: [email protected]33 min
- 27. Rare Disease Advocacy and Podcasting ft. Shivani Vyas, Founder and Host of The Rare Disorder PodcastAfter a few month hiatus (due to the craziness of senior year), this week’s episode is a new and very exciting rare disease podcast crossover episode! I was featured on The Rare Disorder Podcast back in September, and this is my interview with Shivani for R is for Rare! Shivani Vyas is a high school student, and the Founder and Host of The Rare Disorder Podcast, a podcast dedicated to spreading awareness for rare diseases and elevating the voices of those affected by them. Her personal connection to the community traces back to her grandmother, who was affected by a rare pancreatic cancer. Shivani started The Rare Disorder Podcast in March 2020, and today, she cross-podcasts, speaks at conferences, involves herself in research, and advocates for legislation through Young Adults for RDLA (Rare Disease Legislative Advocates) to pay tribute to her grandmother...a true rising star in our community. Outside of school, Shivani loves to spend time with friends, hike, explore the outdoors, and volunteer in her community. She hopes to study public health, public policy, and/or neuroscience in college next year.Shivani and I talk about location and rare disease treatments, how Instagram can be a unifying force, how she got into rare disease advocacy, and much much more!SUBSCRIBE to R is For Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And follow me on Instagram @risforrarepodcast !Shivani’s Links:Listen to The Rare Disorder Podcast on Spotify: https://open.spotify.com/show/1rNodLuZ2cgUlAw77rYWJN?si=Kdy3Uyy_SRKDYKjxKXfOBw&dl_branch=1Follow The Rare Disorder Podcast on Instagram: http://instagram.com/therdpodcastCheck out other platforms & initiatives: https://linktr.ee/theraredisorderpodcastFollow Shivani on Instagram:https://www.instagram.com/shivivyy/1 hr
- 26. 2q37 Deletion Syndrome ft. Megan FreemanThis week's interview is with Megan Freeman, a greeting card creator and rare disease advocate! She has a very rare chromosomal disorder called 2q37 Deletion Syndrome, which causes delays in growth and development. For Megan, she didn't experience puberty until her late teens; she is also 1 of around 150 people with this disease.Megan and I discuss mental health as a rare disease patient, dating with a rare disease, all things advocacy, and much more!Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, Overcast, or wherever you get your podcasts! And follow me on Instagram @risforrarepodcast for more rare disease and disability content!Follow Megan Freeman on Instagram - @cardc.urator1 hr 1 min
- 25. Median Arcuate Ligament Syndrome (and much more) ft. Brenna JonesThis week’s interview is with Brenna Jones, who is a bookworm, Instagrammer, and teenage rare disease and disability advocate! She has many conditions, but the main rare disease we focus on throughout the episode is Median Arcuate Ligament Syndrome, or MALS. Brenna also has hypermobile Ehlers-Danlos Syndomre, POTS, New Daily Persistent Headache (NDPH), May-Thurner Syndrome, and Thoracic outlet syndrome.MALS is a rare disease that affects the celiac artery, which in turn causes GI and digestive issues.Brenna and I talk about academic accommodations with rare diseases/disabilities, comparison, vaccines, books and TV shows, and much more!!Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And let me know what you think of the podcast by leaving a review (it’s free)!Follow me on Instagram - https://www.instagram.com/risforrarepodcast/Follow Brenna on Instagram - https://www.instagram.com/chronicallybrenna/Brenna’s Beacons page - https://beacons.page/chronicallybrenna/Follow Brenna on TikTok - https://www.tiktok.com/@chronicallybrenna?Follow Brenna on Twitter - https://twitter.com/chronicallybren/1 hr 19 min
- 24. Fibrodysplasia Ossificans Progressiva (FOP) ft. Joey Suchanek***TW: Joey very briefly discusses suicide in the second half of the episode. Nothing graphic, but it is brought up***This week's interview is with Joey Suchanek (@joeysooch on Instagram), who is an aspiring influencer with a very rare, genetic disorder called FOP; FOP stands for Fibrodysplasia Ossificans Progressiva. FOP is a rare disease in which a person's muscles, tendons and ligaments turn into bone via flares. Joey and I discuss what makes the rare disease community unique, various ways to view beauty standards in social media, and much more!Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And follow me on Instagram @risforrarepodcast!Joey Suchanek on Instagram -- @joeysoochJoey's YouTube - https://www.youtube.com/channel/UCjTeVF_oFCSJSslY9MkXPMQ1 hr 12 min
About R is for Rare
From the publisher's feed
Annie Watson is a young adult who has lived with narcolepsy, a rare sleep disorder, for almost her entire life. Curious about other rare diseases, Annie will interview someone who has been affected…
(either directly or indirectly) by these diseases and disabilites. She will be discussing the ins and outs of some of the most captivating rare diseases with the patients, doctors, and loved ones who know what it's like to be rare. New episodes of R is for Rare are released every Tuesday.
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