R is for Rare

32. Myasthenia Gravis ft. Alexis Rodriguez, MG support group founder and father of 3

This 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 - @risforrarepodcast Myasthenia Gravis Foundation of America (MGFA) - https://myasthenia.org Myasthenia Gravis Support Group for Atlanta, GA - http://www.mggeorgia.org Alexis 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/

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

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 --- 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

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 --- 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

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!