Britta Dornan and Sarah Tompkins from the EveryLife Foundation for Rare Diseases join us to preview Rare Disease Week 2022. This important event runs from February 22 through March 2 and brings together rare patients from across the U.S. to make their voices heard. To learn how you can get involved, visit the EveryLife Foundation website here , and follow along with #RAREDC2022 on social media.
Feb 11, 2022•19 min•Ep. 46
In this episode, we sit down with Dr. Brad Heller, the founder of Achieve Clinics, to discuss the potential of cell therapies, some of the current challenges and how his organization is tackling these. Learn more about Achieve Clinics here: www.achieveclinics.com .
Jan 21, 2022•18 min•Ep. 45
This week, we talk to patient advocate and FA ambassador for the Friedreich's ataxia Research Alliance, Kyle Bryant, about the importance of getting involved in rare disease communities. To learn more about Friedreich's ataxia, visit curefa.org . Listen to Kyle's podcast, Two Disabled Dudes, at twodisableddudes.com .
Dec 21, 2021•19 min•Ep. 44
In this episode, we sit down with Dr. Robyn Stacy-Humphries with Charlotte Radiology. She talks about her diagnosis of diffuse large B-cell lymphoma and treatment with CAR T-cell therapy. To learn more about CAR T-cell therapy, click here: https://bit.ly/3GIAsAj. Dr. Stacy-Humphries also recommends a private Facebook group for CAR T-cell patients and their care partners, here: https://bit.ly/3oUvAly
Dec 15, 2021•24 min•Ep. 43
In this episode, we speak with Miranda Edwards, the voice behind Pheo vs. Fabulous about her journey with pheochromocytoma. That's an ultra-rare endocrine tumor that produces adrenaline, characterized by symptoms such as rapid heartbeat and dangerously high blood pressure, among others. Topics discussed: self-advocacy, the importance of awareness, living with a terminal diagnosis and more. Learn more about Miranda and her journey by visiting her website, PheoVsFabulous.com . You can also find ou...
Nov 12, 2021•52 min•Ep. 42
In this episode, we speak with Dave Cade, an acute myeloid leukemia patient who is in remission after an experimental treatment. We discuss keeping hope in the face of a tough diagnosis and the importance of support. Learn more about AML here.
Oct 29, 2021•13 min•Ep. 41
In this episode, we discuss an ultra-rare genetic condition with Carole Bakhos of Jordan's Guardian Angels. To find out more about Jordan's Syndrome and how you can support this important nonprofit, check out their website here . Their podcast, "A Rare Reality," is available here or on your favorite podcast platform.
Oct 21, 2021•28 min•Ep. 40
In this episode, we discuss narcolepsy and the results of a recent clinical trial investigating FT218 for efficacy in treating excessive daytime sleepiness and cataplexy. Dr. Asim Roy, the medical director of the Ohio Sleep Medicine Institute and a lead investigator in the REST-ON study, joins us. To learn more about FT218 and the clinical trials, visit www.restore-narcolepsy-study.com .
Sep 27, 2021•19 min•Ep. 39
In this episode, we discuss a condition called periodic paralysis with Dr. Steve Cannon, professor and chairman of the department of physiology at the David Geffen School of Medicine at UCLA and medical advisor with the Periodic Paralysis Association. Periodic Paralysis is a rare genetic disorder that is characterized by attacks of paralysis, weakness, and stiffness in the body. To learn more about this condition, visit the Periodic Paralysis Association here ....
Sep 22, 2021•26 min•Ep. 38
This week, we speak with Mike Graglia from the SYNGAP Research Fund about their efforts in advocating for this underdiagnosed genetic condition. Find out more about SYNGAP and the SRF at SyngapResearchFund.org .
Aug 31, 2021•33 min•Ep. 37
In this episode, we speak with journalist and filmmaker Karina Sturm about Ehlers-Danlos Syndrome and disability awareness and inclusion. To learn more about Karina, or to check out her documentary, "We Are Visible," visit her website here .
Jul 30, 2021•21 min•Ep. 36
In this episode, we discuss Leigh Syndrome, a rare mitochondrial disease, with Kasey Woleben and Sophia Zilber of the Cure Mito Foundation. We talk about the importance of patient registries and how rare disease patients and families band together to work for a better future. To learn more about Leigh Syndrome and the Cure Mito Foundation, visit their website at www.curemito.org .
Jul 16, 2021•24 min•Ep. 35
In this episode, we speak with Kari Rosbeck of the TSC Alliance to discuss tuberous sclerosis syndrome, the importance of research and how the organization adapted during the COVID-19 pandemic. Learn more about tuberous sclerosis complex and the TSC Alliance here .
Jul 02, 2021•29 min•Ep. 34
In this episode, we sit down with Cher Bork and Roberta Smith of the Alagille Syndrome Alliance. We discuss how to support people with this rare condition and preview some upcoming events. To learn more about the Alagille Syndrome Alliance and its efforts visit www.alagille.org .
Jun 17, 2021•26 min•Ep. 33
We sit down with Rebecca Aune and Jack Timperly to talk about the upcoming NORD Patient and Family Forum on June 26 and 27. We discuss what's planned for the event, the annual Rare Impact Awards and why it's important to have rare patients involved in advocacy and educational programs. To register for the Living Rare, Living Stronger: NORD Patient and Family Forum, click here . To learn more about NORD, click here ....
Jun 04, 2021•26 min•Ep. 32
In this week's episode, we sit down to talk with author, life coach and Patient Worthy contributor Tom Seaman. We discuss his journey through diagnosis with dystonia, how it has changed his approach to life and ways to adapt to adversity. For more information about Tom, visit his website at www.tomseaman.com.
May 28, 2021•28 min•Ep. 31
This week, we speak to Jamas LaFreniere, president and founder of the Sophie's Hope Foundation and CureGSD1b -- two nonprofits dedicated to finding a cure for Glycogen Storage Disease Type 1B. GSD is a group of rare metabolic disorders characterized by a missing enzyme that allows the liver to produce glycogen. Learn how to support the Sophie's Hope Foundation here . Learn more about the Cure GSD1B Alliance here ....
May 10, 2021•22 min•Ep. 30
In this episode, we discuss rare disease dermatology with Dr. Steven Chen, MD of Harvard Medical School. Pemphigus and pemphigoid are rare, auto-immune blistering diseases that affect the skin. Learn more about these two conditions at the International Pemphigus and Pemphigoid Foundation . Find out more about Dr. Chen's work in the field of dermatology here .
Apr 23, 2021•22 min•Ep. 29
This week, we speak with Lindsey Cundiff of the EveryLife Foundation for Rare Diseases about the 2021 RAREis scholarship. This fund helps adult rare disease patients achieve their educational goals. We're also joined by Veronica Tingzon, a 2020 scholarship recipient, who talks about her experiences pursuing a nursing degree. Applications for the 2021 RAREis scholarship just opened. Find out more at www.rarescholarship.org .
Apr 09, 2021•25 min•Ep. 28
This week, we speak with EMT and narcolepsy advocate Tara O'Conner about her recently published article on PatientWorthy.com. Tara talks about her journey to diagnosis, why narcolepsy is an under-diagnosed condition and ways friends and family can be supportive of someone with the condition. Read Tara's article here .
Apr 02, 2021•19 min•Ep. 27
This week, Colby talks to Nick Giallourakis, the co-founder and executive director of Elephants and Tea, a non-profit media outlet dedicated to sharing patient voices in the adolescent and young adult cancer community. Find out more about Elephants and Tea here. Their podcast, "Spilling Tea With the G's" is found on YouTube here....
Mar 12, 2021•30 min•Ep. 26
This week, we speak with Annie Kennedy from the EveryLife Foundation about their groundbreaking study examining the economic burden of rare disease. We're joined by Marissa Penrod from Team Joseph, a Duchenne muscular dystrophy nonprofit to discuss how these numbers assist in rare disease advocacy. Read the full study here: www.everylifefoundation.org/burden-study Learn more about the EveryLife Foundation for Rare Diseases here: www.everylifefoundation.org Learn more about Team Joseph here: www....
Feb 26, 2021•33 min•Ep. 25
This week, Colby speaks with Camelia Isaic from HAE Junior in the Czech Republic to discuss her organization's ongoing efforts to improve the lives of HAE patients. Find out more about HAE Junior at www.haejunior.cz . For more information about the Fight the Swell podcast, visit: https://bit.ly/3ojRV9Q
Feb 15, 2021•30 min•Ep. 24
Colby speaks with Gina Glass, the founder of the Dreamsickle Kids Foundation in Nevada. Her sickle cell disease organization has helped to raise awareness and form legislation centered around access in that state. Gina speaks about her ongoing efforts, how to support family members with sickle cell, and what's on the horizon. Find out more at www.dreamsicklekids.org .
Feb 05, 2021•17 min•Ep. 23
Rachel Sutherland, an editor and copywriter with our partners at Snow Companies, shares her cystic fibrosis story. She discusses diagnosis and the importance of establishing a support system.
Jan 29, 2021•21 min•Ep. 22
In this episode, Colby speaks with Taylor Anne Burtz and Peter Zdziarski of the Glanzmann's Research Foundation. Glanzmann's thrombasthenia is rare genetic condition characterized as a blood clotting disorder. Taylor and Peter discuss their personal experiences with the condition and the foundation's goals of connecting patients and advancing research for treatments and a cure. Find out more information about the Glanzmann's Research Foundation at www.curegt.com ....
Dec 04, 2020•29 min•Ep. 21
Sunni speaks with Adam Settle and his family about the new book chronicling Adam's life with cobalamin C deficiency. The genetic condition can cause blindness, nervous system issues and other symptoms. Learn more about Adam and his book here: https://adamsettle.wordpress.com/ As mentioned in the intro, check out the "Fight the Swell" HAE podcast on YouTube here: https://bit.ly/3ojRV9Q
Nov 20, 2020•25 min•Ep. 20
In this episode, we say goodbye to Patient Worthy managing editor Ilana. Colby and Ilana also discuss Ehlers-Danlos Syndrome and why diagnosis can be such a long road for patients.
Nov 06, 2020•28 min•Ep. 19
In this episode, Ilana and Rebekah talk with Darlene Shelton, the founder of Danny's Dose. It's a nonprofit dedicated to changing emergency medical protocols for chronic illness and rare disease patients. This conversation was recorded at the NIH Rare Disease Day in Februrary, 2020 -- the last in our series of conversations with patients on the front line of rare disease advocacy.
Oct 16, 2020•26 min•Ep. 18
In this episode, Sunni talks with illustrator J.G. Jones, who has worked as a comic book artist for almost 25 years. Jones, who was diagnosed with a type of rare blood cancer, is working on a new project that is bringing attention to myeloproliferative neoplasm patients through a combination of story and illustration.
Oct 09, 2020•23 min•Ep. 17
