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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 laugh and learn about issues that impact people living with diseases our doctors can't to spell.
 
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 ...
 
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 ...
 
Rare in Common is a podcast about the unique stories of people affected by rare disease. Host Andra Stratton, a rare disease advocate, speaks with different members of the rare disease community, including patients, caregivers, healthcare professionals, and researchers. Join us as we tackle topics such as FDA approvals, national awareness campaigns, finding hope and support within the rare community, and the extraordinary challenges of living with a rare disease. Click. Listen. Feel.
 
Come listen while we talk about true crime in the medical world. Our main focus has been medical malpractice cases and how they changed our medical system forever. Recently we have branched out and have added subjects like bizarre and rare diseases, medical history, serial killers who prey on the vulnerable, Munchausen by Proxy cases, diagnosis stories, interesting health remedies, and self-help book reviews.
 
TGen Talks explores the human genome to tackle the latest science and discoveries in cancer, neurological disorders, rare diseases, metabolic disorders and infectious disease. Learn about causes and potential cures in our monthly podcast!
 
The Video Journal of Hematological Oncology (VJHemOnc) podcast covers the latest hematological oncology and hematology news from international experts – from leukemias, lymphomas, MDS and MPNs, to sickle cell, aplastic anemia and rare diseases. Made for healthcare professionals and researchers, we are a global, independent, open-access platform. Listen to the latest news, including cutting-edge trial updates, controversies and opinion. If you enjoy the podcast, please leave us a rating and r ...
 
Two Rare Mama Bears, a Cure CMD Podcast - where we discuss all things Congenital Muscular Dystrophy and Rare Disease...All subtypes, ages, abilities and topics with the intent to connect the CMD community. This podcast is about bringing together affected individuals, their family, researchers, clinicians, industry, and policy-makers to have conversations with the goal of moving the needle on the mission of Cure CMD. Hosts: Megan Meyer and Matty Manley.
 
Since 1989, Patient Services Incorporated has restored hope and health to chronic and rare disease patients. We truly admire the many perspectives we come across in our line of work. This inspired our new podcast, Rare Perspectives, where we go beyond the diagnosis and explore the heart of the experience. Our goal is to shed light on the paths that patients walk and highlight different perspectives. We hope their stories help to educate you about chronic illness.
 
A domestic terrorist attack evokes a violent and oppressive response from the U.S. government... a labor dispute ends in violence... a young boy lies dying of a rare disease with no hope in sight. When the conflict focuses on a small town in West Virginia, Ken Murphy, Iraq veteran and Lieutenant Colonel in the West Virginia National Guard, must find a way to protect his family and community in a world turned upside down. In a future America terrifying to behold, Republic evokes the specter o ...
 
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show series
 
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 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…
 
In this episode, the P4A team take a deep dive into the Brazilian pharmaceutical market and discuss its potential for access to orphan drugs, cell and gene therapies. The overall Latin American pharma market is forecast to grow by 9% per year through to year 2028. However, major markets in this region such as Brazil have some major barriers to acce…
 
In this roundtable discussion, chaired by Paolo Ghia, MD, PhD, Università Vita-Salute San Raffaele, Milan, Italy; Susan O’Brien, MD, University of California Irvine, Irvine, CA; Lydia Scarfò, MD, Università Vita-Salute San Raffaele, Milano, Italy and Othman Al-Sawaf, MD, University Hospital of Cologne, Cologne, Germany, review the most exciting upd…
 
Myelodysplastic syndromes (MDS) are a group of myeloid clonal disorders caused by a defect in bone marrow, which hinders their ability to produce healthy and normal functioning red blood cells (RBCs). The heterogeneous nature of MDS means therapeutic approaches need to be specifically tailored to each subtype. Current treatment options for MDS incl…
 
Recent progress in the field of immunotherapy presents an exciting alternative to standard chemotherapy treatments for patients with non-Hodgkin lymphoma. However, at present, durable responses are only achieved in a minority of patients. Accumulating evidence suggests that the microenvironment plays a critical role in the regulation of immunothera…
 
The introduction of many novel drug classes and therapies has resulted in significant improvements in overall survival outcomes for patients with multiple myeloma over the past decade. Despite this, many patients become relapsed or refractory to currently available therapies and as such, novel agents and combination regimens remain key to improving…
 
Science has come a remarkably long way, especially since sequencing the human genome, but has it come far enough for everyone? A focus of TGen research has always been finding a path to the clinic and ensuring the work is relevant to all ethnicities, ages and genders. But that’s not always easy. "Right now, precision medicine is not precise for eve…
 
The breakthrough discovery of upregulation of the JAK-STAT signaling pathway as the driving force behind myeloproliferative neoplasms (MPNs) has led to a broadened range of treatment options across the spectrum of MPNs. Myelofibrosis is one of the most common types of MPN and many clinical trials are exploring novel drugs and combinations for its t…
 
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…
 
Over the past decade there has been a vast increase in the number of clinical trials taking place in the field of myeloproliferative neoplasms (MPNs), with many trials investigating the potential benefits of novel JAK inhibitors both as monotherapy and in combination with other drugs, such as Bcl-2, Bcl-xL or BET inhibitors. More recently, next-gen…
 
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 …
 
Jauclyn and Ryah dive deep into the trenches of this episode discussing the link between electronics and certain cancers along with who is more apt to be affected. Carpenter-2013.pdf (wirelessrighttoknow.com) David O. Carpenter | University at Albany 'Allergic' to Electronics: Man Sues Neighbor Over Gadget Use - ABC News (go.com) https://www.washin…
 
In this episode, we take a break from our regular Malpractice cases and talk more about what happens behind closed doors of Munchausen By Proxy. Come explore this controversial topic with us, and as always there's plenty of jokes along the way. Sources: https://www.sun-sentinel.com/local/broward/fl-jennifer-bush-munchausen-20150415-story.html https…
 
Treatment options for patients with myelodysplastic syndromes (MDS) remain limited, with the rapid advances seen in other hematological malignancies not replicated in this space. Aside from hematopoietic stem cell transplantation, current approaches are non-curative, instead aiming to delay disease progression and manage cytopenias. The development…
 
Over the last years, the chronic lymphocytic leukemia (CLL) field has seen significant growth in new drugs and new treatment combinations. One emergent strategy is fixed-duration therapy, which combines two or more agents for a set timeframe. Fixed-duration therapy is an appealing option for different reasons, including shorter treatment times and …
 
Acute myeloid leukemia (AML) is a clonal hematologic malignancy defined by genetic heterogeneity due to recurrent gene mutations. Precision medicine has gained importance in the treatment of AML, with important developments in gene mutation-targeted therapeutic agents transforming the treatment landscape. The role of measurable residual disease (MR…
 
The treatment and management of multiple myeloma has evolved drastically over the last ten years with the introduction of many novel drug classes and therapies, resulting in notable improvements in overall survival. However, many patients remain relapsed or refractory and thus clinical trials of novel agents and combinations are key to improving th…
 
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…
 
There are several forms of acute lymphoblastic leukemia (ALL), with B-cell ALL being the most common (~75% of cases). A range of treatments are available for ALL, including chemotherapy, radiation therapy, and stem cell transplantation. Chimeric antigen receptor T-cell (CAR-T) therapy is a novel cellular therapy that has demonstrated potential for …
 
This is part 2 about the Sanatoriums of North Dakota and Canada. We're going to Canada! In this episode we talk about the dark past of Canada- come with us on our journey to expose the issues in our healthcare system. Sources: https://www.cbc.ca/news/canada/manitoba/indigenous-sanatorium-suvivors-medical-experiments-1.4301131 https://www.brandonsun…
 
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.Door Patient Worthy
 
With the Delta variant of COVID-19 garnering worldwide attention, it begs the question: When will the pandemic end? This month, on Episode 38, we circle back with David Englethaler, Ph.D., Director of TGen's Pathogen and Microbiome Division, more commonly known as TGen North, for an update on all things COVID-19 related. How much longer will we be …
 
During the COVID-19 pandemic, myeloma support and advocacy groups were forced to adapt to a new way of working in order to continue helping patients with myeloma and improving their quality of life. The COVID-19 pandemic has changed the way that patients with myeloma interact with their doctors, with phone and video appointments filling in for face…
 
Over the past ten years, the approval of several new and effective therapies for multiple myeloma has significantly improved overall survival outcomes. The introduction of novel therapies has led to high levels of complete response, and many novel techniques are now being explored for the assessment of the depth of response, one of the most effecti…
 
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.Door Patient Worthy
 
Chronic lymphocytic leukemia (CLL) is slow to develop and can be hard to treat as patients relapse or become refractory to currently available therapies. Chimeric antigen receptor T-cell (CAR-T) therapy is a novel type of treatment which is currently being explored for several forms of hematological cancer, with FDA approvals of CAR-T therapies for…
 
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 …
 
Age is an important prognostic factor in multiple myeloma, with patients aged over 75 years showing inferior outcomes when compared to younger patients. Several factors play into the poor survival observed, including a higher incidence of severe disease, and high rates of comorbid conditions and functional impairment. However, the elderly populatio…
 
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…
 
Its almost six months since President Joe Biden came to office but the role of the head of the country's key drug regulator, the US Food and Drug Administration (USFDA) is yet to be filled. In this episode, the P4A discusses the absence of a USFDA commissioner and its impact. Also, we understand the significance of recent remarks of the Center for …
 
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.…
 
Advances in both the treatment landscape and the pathology of the disease have improved the outcome of children and adults with acute lymphoblastic leukemia (ALL). However, many challenges still remain, including the treatment of older patients with ALL, diagnosis of Philadelphia chromosome-like (Ph-like) ALL, a newly identified aggressive subtype,…
 
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.com Twitter: Ronda F Jefferson (@CInvisible2020) / Twitter Facebook: SeetheInvisible2020 | …
 
Myelodysplastic syndromes (MDS) are a heterogenous group of myeloid disorders characterized by the accumulation of dysplastic cells within the bone marrow, resulting in ineffective hematopoiesis and cytopenia. Around 30% of patients with MDS will progress to acute myeloid leukemia (AML). Hematopoietic stem cell transplantation (HSCT) currently repr…
 
Acute myeloid leukemia (AML) is the most common type of leukemia in adults and is highly heterogenous. AML is typically treated with chemotherapy and allogeneic stem cell transplantation, however not all patients are eligible or able to tolerate these regimens, and many patients will experience relapse. Chimeric antigen receptor T-cell (CAR-T) ther…
 
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. Contact: Email: Seetheinvisi…
 
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…
 
We have probably all been there. The doctor is not listening to us, and we are left feeling frustrated, unheard and still suffering from the symptoms that our doctor won't believe. In this episode I will share some of my experiences on this as well as provide some feedback from others. Contact: Email: Seetheinvisible2020@gmail.com Twitter: Ronda F …
 
I explore the difference between Autoimmune and Autoinflammatory illnesses. I admittedly used to use these terms interchangeably until I found out that they were different. It's important to know the differences to try to reach a quicker diagnosis as well as determine best treatment plans. Allstripes blog: https://www.allstripes.com/blog/twelve-rar…
 
In this month's episode, the P4A team take a deep dive into the impact of Brexit on the UK's market access landscape. Four months after leaving the European Union, the UK's attractiveness as a key destination for commercialisation of new drugs is being tested. In order to improve its credentials, the UK is exploring a slew of measures that could po…
 
Hearing the words you have cancer comes as a shock. Hearing that your child has cancer is almost unimaginable. And when you learn that it is a rare form of brainstem cancer known as diffuse intrinsic pontine glioma or DIPG — a central nervous system cancer that forms from glial cells, the supportive tissue of the brain and spinal cord that affects …
 
Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid disorders characterized by the accumulation of dysplastic cells within the bone marrow, resulting in ineffective hematopoiesis and cytopenia. Patients typically have a median survival of 0.8 to 8.8 years. Around 30% of patients with MDS will progress to acute myeloid leukemia (AML…
 
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