Rare Disease 公開
[search 0]
もっと

Download the App!

show episodes
 
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.
 
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 ...
 
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 ...
 
Welcome to 'My rare disease' podcast. This is a platform where I raise awareness of something that affects 1 in 15 people, rare disease. By chatting to patients, health professionals and advocates, we talk about all aspects of rare disease including relationships, mental health and much more. I cannot wait for you to hear some truly inspiring stories from some absolutely amazing people. From being diagnosed with a rare disease myself at 10 weeks old, it has given me the motivation to give ot ...
 
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 ...
 
Loading …
show series
 
This episode of the Patient Empowerment Program is brought to you by Argonaut Manufacturing Services! Argonaut provides contract manufacturing and sterile fill-finish services for biopharmaceutical, diagnostics and life science organizations. Argonaut’s expertise in sterile fill-finish is the last step in the complex process of providing personaliz…
 
Thank you for sticking with us while we took an unexpected break! We now return to our regular schedule of helping to share the stories of the rare disease community. In this week's episode, we sit down with Melissa Kennedy and Dominique Pichard of the International Rett Syndrome Foundation (IRSF). To learn more about Rett Syndrome and see how you …
 
The second episode of the 2-part Rare Disease Report shifts to a clinical perspective with the expertise of Dr. Pestana, a pediatric epileptologist at the Epilepsy Center, Cleveland Clinic Neurological Institute who treats patients with CDKL5 deficiency disorder (CDD).Rare Disease Report による
 
Moderna Sues Pfizer & a collaborator of the Pfizer vaccine for patent infringement using MRNA technology which Moderna held patents for. Moderna had allowed other companies to use their technology during the pandemic, but is looking for "royalties" to state it simply for sales of the vaccine from a certain date, except for sales made to the US gove…
 
In this episode, Stan talks with Sonja and Dr. Neil Shneider, associate professor of motor neuron disorders at Columbia Medical School, about Sonja’s daughter, Anna. She is 17 years old and suffers an aggressive, fatal form of ALS. ALS is rare in teenagers, and this form of ALS is the worst of the worst. Sonja tells Anna’s story initial symptom ons…
 
This episode provides an in depth explanation as to why ASO technology is often the best option for nano rare patients. Small molecule drugs and gene therapy are viable, but ASO technology is more broadly applicable. The latter portion of the episode is a history of the drug development industry, which has many lessons that will be beneficial for o…
 
I've learned a few more things about insurance and how things are handled regarding the Affordable Care Act, prices that providers charge, and how this can lead to bias, whether conscious or unconscious. Contact Info: Contact: Email: Seetheinvisible2020@gmail.com Twitter: Ronda F Jefferson (@CInvisible2020) / Twitter Facebook: SeetheInvisible2020 |…
 
In this episode, Stan speaks with Wendy Erler about her involvement in the treatment of patients with rare genetic disorders. From her start in the pharmaceutical industry, to her involvement with every major platform of drug development, to her position as vice president and head of patient advocacy at Alexion; Ms. Erler has always ensured that a …
 
I really enjoyed talking to Annabelle about her chronic illness Cystic Fibrosis. Annabelle spoke openly about how she got diagnosed with her condition, how illness has changed our outlook on life as well as the importance of psychological support for individuals with a chronic illness. Annabelle has really highlighted how much chronic illness can a…
 
In today's episode, Stan introduces the three major platforms for drug discovery. These are the technology platforms on which most of the drugs on the market and in development today are produced. By understanding the difference between these platforms, the listener can understand the differences between the drugs produced on these platforms. The t…
 
In this episode, Stan talks to Dr. Joe Gleeson about the role of genetics in neurology and pediatric patients with neurological conditions. Early in his training, Dr. Gleeson realized how prevalent it was that pediatric patients, especially those with neurological disorders, never received a diagnosis. Furthermore, in over half of these patients he…
 
I will provide updates as well as some new insight to some parts of the healthcare system as I have unfortunately experienced them over the past few months. The disparities seem to be getting worse, and to me, I think it is impossible to even fathom the long-term impacts that these severe shortcomings have on patients and future generations. Contac…
 
This episode provides knowledge on science and drug discovery and development for patients and their families. With the educational series, listeners will learn the basic science behind drug discovery and development. Please Rate and Review us so that we can reach more potential patients and their family’s.…
 
In this episode, we sit down with Tiffany Sammons and Pam Mace from our partners over at NORD to preview the upcoming Living Rare, Living Stronger Patient and Family Forum. This exciting yearly event brings together patient advocates and their families from around the world. Learn more about the Patient and Family Forum, taking place June 26 in Cle…
 
Dr. Sessions Cole shares his career being a neonatal pulmonologist and his involvement in the undiagnosed diseases network, the UDN. Dr. Cole estimates that it can take up to 12 years to get a diagnosis for a patient with a rare genetic condition and that there could be as many as 30 million of these patients in the U.S. who are undiagnosed. The UD…
 
Mikkael Sekeres, MD, is no stranger to rare disease. In his own words, there are rare diseases and then there are very rare diseases. Sickle cell is a rare condition with an incidence rate of just over 100 per 100,000 people. Sekeres focuses much of his treatment on patients with bone marrow disorders like myelodysplastic syndromes (MDS) and acute …
 
In this episode, we speak with Shelley Frisbie and Dr. Kaumudi Bhawe of Cancer Commons, a non-profit dedicated to providing assistance to advanced cancer patients. We discuss why having a dedicated support team can be so helpful and why every cancer diagnosis is unique.To learn more about Cancer Commons, visit their website here. You can also conne…
 
The second lesson of Dr. Stan Crooke's series which provides knowledge on science and drug discovery and development for patients and their families. With the educational series, listeners will learn the basic science behind drug discovery and development. In this episode, Stan provides an educational lecture on Biological Systems and Chemical Netw…
 
The first in Dr. Stan Crooke's lesson series to provide knowledge on science and drug discovery and development for patients and their families. With the educational series, listeners will learn the basic science behind drug discovery and development. In this episode, Stan provides an overview of n-Lorem and the progress the Foundation has made in …
 
Dr. Stan Crooke talks to Luke Rosen and Wendy Chung about Luke’s seven-year old daughter, Susannah. Susannah has a genetic mutation that is progressive and debilitating. Susannah is also an n-Lorem patient, which means that we are hard at work discovering and developing a personalized experimental ASO medicine just for her, for her specific mutatio…
 
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 による
 
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…
 
In this episode, I speak to Carly who has been diagnosed with thyroid cancer in both 2017 and 2021. Now in remission, Carly still gets symptoms such as fatigue which can affect her day-to-day life. I talk to Carly about care young people need in hospital, help we need from professionals, support Carly has had for her mental health and advice she wo…
 
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 による
 
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, I talk to Tallulah about her rare disease Ataxia. We chat about how it took nearly 10 years for Tallulah to be diagnosed and how it affects her day-to-day. We discussed the importance of accessibility and some challenges that Tallulah has faced with this. Degenerative conditions can be tough, especially with a global pandemic in th…
 
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 による
 
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…
 
Welcome to the first episode of season 2! In this episode I talk to Liam about his congenital heart defects and the impact this can have on his mental health. We share some mental health facts and figures and raise awareness of the importance around physical and mental health support
 
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 による
 
Loading …

クイックリファレンスガイド

Google login Twitter login Classic login