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Wait How Do You Spell That? is a rare disease podcast produced by Patient Worthy. We talk about issues affecting people rare and underdiagnosed conditions and interview advocates from across the community. We‘re definitely not doctors, and we can‘t give you medical advice. We‘re just here to chat and learn about the diseases that even doctors can‘t seem to spell. Check out the latest in rare disease news at PatientWorthy.com.
 
Join the nano-rare disease community! Interviews features leading physicians, scientists, biotech experts, and patient advocates. Lessons teach core concepts about drugs. Our host Dr. Crooke has led the creation of antisense technology and his foundation, n-Lorem, is using this powerful technology to discover, develop, and provide personalized experimental antisense oligonucleotide medicines to nano-rare patients for free, for life. n-Lorem is a non-profit organization established to apply t ...
 
If you or someone you love is affected by a rare disease, you likely have more questions than answers. That’s why we’re here. Rare Disease Connection, and our additional resources on RareDisease.com and YourDNA.com, brings together the people whose expertise can explain what you’re facing. From diagnosis, to prognosis, to treatment options, all the way to questions like “Who do I talk to? Where are the people who’ve been through this before?”. We have the answers, direct from the experts and ...
 
I want to share information about living with and dealing with a chronic or invisible disease. This is made even more difficult if the disease is rare. I'll share my story and also invite some guests to share their viewpoints and experiences. There are hundreds of different types of diseases out there that are invisible and can the sufferer feel more alone. I'm hoping to help the patient, families and other support systems better communicate and empathize with each other. ***Disclaimer - Thi ...
 
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show series
 
We are excited to announce n-Lorem’s brand new podcast, the "Patient Empowerment Program". There are podcasts about genetics and rare diseases, but we didn’t find one focused on nano-rare diseases, conditions that affect 30 or less people in the world. Listen to this trailer to hear a sneak peak at what’s coming up on the podcast. There are going t…
 
In this episode, we speak with Patient Advocate Nathan Ehrlich about SAMD9L mutations and their connection to a range of conditions, including bone marrow failure disorders, cytopenia and ataxia-pancytopenia syndrome. If you'd like to get in touch with Nathan, you can email him at nathan.ehrlich@gmail.com. You can also check out the SAMD9L mutation…
 
In this hallmark episode, we discuss a condition that has only been documented in 70 cases worldwide. Dr. Amelle Shilligton is a clinical geneticist at Cincinnati Children's Hospital Medical Center. In this conversation, Ashley and Jacob Wiley share the story of how they rushed their 15 month old daughter Aislynn to that hospital, and Dr. Shillingt…
 
In this episode of the podcast, we meet with our partners at the Myrovlytis Trust to talk about their work in rare disease research. Keep up with the Myrovlytis Trust and their new initiatives here: Myrovlytis Trustwww.myrovlytistrust.orgLinkedIn: https://www.linkedin.com/company/the-myrovlytis-trustTwitter: @Myrovlytis BHD Foundationwww.bhdsyndrom…
 
For Autoimmune Disease Awareness Month, Joe Ahearn, MD, discusses relapsing polychondritis from a clinical perspective with Michael Linn, an advocate and the Vice Chair of the Relapsing Polychondritis Foundation. The team shares an exciting announcement about the partnership they've formed.Rare Disease Report
 
Hello and Happy Rare Disease Day! This week, we discuss some exciting developments concerning rare disease awareness in the EU, specifically in the Czech Republic, with Camelia Isaic and Anežka Dašková of HAE Junior. To learn more about HAE Junior, click here. More information about HAE Junior art exhibition can be found here. Read more about the E…
 
Our first episode back features Karen Kozarsky, PhD, an expert on gene therapy and adrenomyeloneuropathy (AMN). She has an in-depth discussion with our new host Giuliana Grossi about what the future might hold for AMN treatment.Rare Disease Report
 
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 …
 
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.Patient Worthy
 
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.…
 
First, thank you all for your patience. My family and I had Covid. Thanksgiving was spent in quarantine and I'm still not 100% (but really, I haven't been 100% in years) but I'm slowly getting there. Also, I will be moving the podcast to a new host. I currently pay monthly for this host, but I'm finding that is not really feasible to continue. I wi…
 
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 a…
 
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, …
 
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.Patient Worthy
 
We continue to review healthcare disparities and inequalities within our healthcare system and look at reasons why they may exist and what we can do to try to erase them. Contact Info: Contact: Email: Seetheinvisible2020@gmail.com Twitter: Ronda F Jefferson (@CInvisible2020) / Twitter Facebook: SeetheInvisible2020 | Facebook Website: SeetheInvisibl…
 
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.…
 
Part 2 of our series on addressing healthcare disparities: We will review what baselines are and how they can impact clinical trials, as well as begin to discuss why it is important that clinical trials include people of all backgrounds. Contact: Email: Seetheinvisible2020@gmail.com Twitter: Ronda F Jefferson (@CInvisible2020) / Twitter Facebook: S…
 
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, v…
 
This episode will begin the series on address healthcare disparities and accessibility. This will be a multi-part series as there is a wealth of items that need to be addressed, and in this case, wealth is not good. This episode will review key points and information for understanding what the next episodes hold and why addressing these now is not …
 
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, weakn…
 
Part 2. We are exploring back to school safety tips - even though some of the tips don’t necessarily apply to illnesses, they are good reminders on what we need to be aware of as our most precious resources begin another academic year. This episode will concentrate on keeping our kids healthy Contact: Email: Seetheinvisible2020@gmail.com Twitter: R…
 
Part 2. We are exploring back to school safety tips - even though some of the tips don’t necessarily apply to illnesses, they are good reminders on what we need to be aware of as our most precious resources begin another academic year. This episode will concentrate on transportation tips. Contact: Email: Seetheinvisible2020@gmail.com Twitter: Ronda…
 
We are exploring back to school safety tips - even though some of the tips don’t necessarily apply to illnesses, they are good reminders on what we need to be aware of as our most precious resources begin another academic year. This episode will concentrate on keeping our kids healthy Contact: Email: Seetheinvisible2020@gmail.com Twitter: Ronda F J…
 
We are exploring back to school safety tips - even though some of the tips don’t necessarily apply to illnesses, they are good reminders on what we need to be aware of as our most precious resources begin another academic year. This episode will concentrate on transportation tips. Contact: Email: Seetheinvisible2020@gmail.com Twitter: Ronda F Jeffe…
 
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.Patient Worthy
 
This episode is completely about my experiences and thoughts as my children get ready to start the new school yeat with a new Variant, Delta,, of Covid 19 starting to surge. Contact: Email: Seetheinvisible2020@gmail.com Twitter: Ronda F Jefferson (@CInvisible2020) / Twitter Facebook: SeetheInvisible2020 | Facebook Instagram: Ronda Jefferson (@seeth…
 
Today I am reviewing some events that have happened to those with allergies and/or asthma while flying. This topic is very concerning to me as I have worried about what will happen if I need to fly, but an animal that I am allergic to is on the plane? And for clarity, I’m not referring to Service Animals but to pets. This topic can create hardships…
 
Asthma, Allergies and Travel. These words can strike fear in those who have to encounter all of these together. I will go over tips in this episode on how to make a trip safer. Note - I used the word "safer" because in some instances, even if you've taken appropriate steps, dander and other allergens can travel on other people's clothes. Contact: E…
 
Today I will explore how the ADA addresses Asthma and Allergies. Some may not realize that both Asthma and Allergies are considered disabilities and protected under the Abilities with Disabilities Act. Links to information regarding the ADA are in the description below. Source: Are Asthma and Allergies Disabilities? | AAFA.org ADA Information: ADA.…
 
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.Patient Worthy
 
Today I will review some of the information regarding when you're pregnant and have asthma. Source: https://www.aafa.org/asthma-during-pregnancy/ Disclaimer: I am in no way a medical, insurance or legal expert. If you have any questions in those areas, please be sure that you contact a specialist in that field. I will discuss topics or articles tha…
 
In part 3 of exploring Asthma, we look at what to look for in an infant or toddler who may have asthma. Disclaimer: I am in no way a medical, insurance or legal expert. If you have any questions in those areas, please be sure that you contact a specialist in that field. I will discuss topics or articles that I have found on publicly accessible mean…
 
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 th…
 
We continue to explore Asthma in this episode, as well as take more of a look at accessibility. There are different types of Asthma and the recognition of which type of a patient has is very important in treatment. The statistics on the impact of Asthma are staggering in loss of school, work, medical costs, and most importantly, human life. I know …
 
We start to explore Asthma in this episode. There are different types of Asthma and the recognition of which type of a patient has is very important in treatment. The statistics on the impact of Asthma are staggering in loss of school, work, medical costs, and most importantly, human life. I know that I found many of these statistics a surprise and…
 
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.Patient Worthy
 
This series of episodes explore an invisible illness that many people suffer and survive with but that many don’t actually consider an illness. Allergies. Allergies are more than an inconvenience, just watery eyes or runny nose. These can be life-threatening and need attention so that others are aware. This episode will focus on life as an adult, n…
 
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.Patient Worthy
 
This series of episodes explore an invisible illness that many people suffer and survive with but that many don’t actually consider an illness. Allergies. Allergies are more than an inconvenience, just watery eyes or runny nose. These can be life-threatening and need attention so that others are aware. This episode with focus on recent High School …
 
This episode explores an invisible illness that many people suffer and survive with but that many don’t actually consider an illness. Allergies. Allergies are more than an inconvenience, just watery eyes or runny nose. These can be life-threatening and need attention so that others are aware. Contact: Email: Seetheinvisible2020@gmail.com Twitter: R…
 
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 …
 
This episode explores an invisible illness that many people suffer and survive with but that many don’t actually consider an illness. Allergies. Allergies are more than an inconvenience, just watery eyes or runny nose. These can be life-threatening and need attention so that others are aware. Contact: Email: Seetheinvisible2020@gmail.com Twitter: R…
 
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.…
 
Also, Facebook will not allow me to boost posts because it says that they need to make sure that it is me, to verify my identity. If you enjoy the podcast, please share with those that you think may enjoy it as well.Contact: Email: Seetheinvisible2020@gmail.comTwitter: Ronda F Jefferson (@CInvisible2020) / Twitter Facebook: SeetheInvisible2020 | Fa…
 
Today I will start the topic of taking care of our caregivers. Our loved ones do so much for us, and we need to show appreciation and try to understand what they do and the roles that they play in our lives. We also want to take care of their needs. If their needs aren’t met, then they also won’t be able to care for us.…
 
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 Hop…
 
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