Sarcoidosis
PodcastDX
In this episode we will discuss Sarcoidosis with Frank Rivera. Frank is the Founder and President of is a WEGO Health Patient Leader, a Patient Ambassador at Illumina Inc, and a volunteer Patient Ambassador at The Foundation for Sarcoidosis Research. Sarcoidosis is a disease characterized by the growth of tiny collections of inflammatory cells (granulomas) in any part of your body — most commonly the lungs and lymph nodes. But it can also affect the eyes, skin, heart and other organs. The cause of sarcoidosis is unknown, but experts think it results from the body's immune system...
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Organ Donation
PodcastDX
Every day, gifts from donors restore health to save and improve lives. As of 2019, 165 million people in the U.S. have registered as donors, but we all need to sign up. There are still men, women, and children waiting for a life-saving organ transplant. Organ donation takes healthy organs and tissues from one person for into another. Experts say that the organs from one donor can save or help as many as 50 people. Organs you can donate include Internal organs: Kidneys, heart, liver, pancreas, intestines, lungs Skin Bone and bone marrow Cornea ...
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Tinnitus
PodcastDX
Do you hear a constant sound in your ears, even though there is no external source linked to the noise? If so, you’re likely suffering from tinnitus, and you aren’t alone. It’s estimated that more than 50 million Americans suffer from some degree of tinnitus, 16 million Americans experience such severe ringing that they require some type of treatment, and another 2 million suffer from such debilitating tinnitus that it impacts their daily lives. Tinnitus is marked by phantom-like ringing, roaring, hissing, buzzing, or clicking noise; in other words, the sound can be heard, yet...
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von Hippel-Lindau Chuvash Polycythemia
PodcastDX
Our guest this week is Shannon Wyatt. Shannon has an extremely rare condition called von Hippel-Lindau Chuvash Polycythemia (we will abbreviate to VHL). Her only symptom that led to finding VHL was that she was diagnosed with kidney cancer at 34 years old, that didn’t even have any noticeable symptoms, it was just an incidental finding on an MRI, but when they took it out, they found it was malignant. A few years later, it was pulmonary embolisms in both lungs after a routine gallbladder removal that pointed to Chuvash Polycythemia after many previous labs had raised suspicion of...
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Bleeding Disorders
PodcastDX
Bleeding Disorders, also known as Hemophilia, von Willebrand Disease, Coagulation Disorders, Blood Clotting Disorders, Clotting Factor Deficiencies Bleeding disorders are rare disorders affecting the way the body controls blood clotting. If your blood does not clot normally, you may experience problems with bleeding too much after an injury or surgery. This health topic will focus on bleeding disorders that are caused by problems with clotting factors, including hemophilia and von Willebrand disease. Clotting factors, also called coagulation factors, are proteins in the blood that...
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Trisomy
PodcastDX
Trisomy is an abnormality in which an organism has the wrong number of chromosomes. In humans, a normal baby will have 46 chromosomes in 23 pairs, with each parent contributing 23 chromosomes. When trisomy occurs, the individual is born with three instances of a particular chromosome instead of the usual two, resulting in 47 total chromosomes instead of 46. The results of this extra data can vary, but tend to manifest in the form of birth defects, some of which can be quite severe. The most common cause of trisomy is a problem in the duplication of chromosomes to create egg and sperm cells....
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Lysosomal Storage Disease
PodcastDX
Lauren, is here speaking with us today about Lysosomal Storage Disease. Lauren has four siblings whom she loves dearly, and graduated in 2011. She worked at a community center until COVID put a hold on social gatherings. She considers herself a social person and is grateful for the chance to get her story out into the world. Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies. There are nearly 50 of these disorders altogether, and they may...
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Muscular Dystrophy
PodcastDX
This week we are speaking with a Muscular Dystrophy Warrior! Keisha Greaves is a motivational speaker, the founder of Girls Chronically Rock, and the Massachusetts State Ambassador for the Muscular Dystrophy Association (MDA). Girls Chronically Rock (www. girlschronicallyrock.com) offers inspired fashion celebrating Muscular Dystrophy and other chronic illnesses. Over the past few years, Keisha has been featured in Good Morning America, Today Show, WCVB Chronicle, ABC News, Thrive Global, Politico, Improper Bostonian, Boston Voyager, Herself 360, Liz on Biz, among other outlets on and...
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Rare Disease CAMK-2 Gene
PodcastDX
Our guest today is Karen is a wife and mother to 5 children. Her youngest, who is now 13 was born seemingly healthy. In her first weeks it became clear that she wasn't developing normally. After 10 years of looking for a diagnosis and not finding answers, they decided to do whole exome sequencing. That finally gave them an answer. She has a mutation of her CAMK2 gene. It was so newly discovered that only a handful of people were diagnosed with this. Since it has been discovered, more children are being found to be in the family of CAMK2 mutations. It is so...
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Effects of Agent Orange
PodcastDX
Tara Parham, the daughter of a disabled USMCS Veteran, eighty-sixed her 6 figure income career in Government Healthcare and Lean Six Sigma, after falling ill with the first of 3 rare diseases that are associated with her dads exposure to Agent Orange, a dioxin used while he was serving in the Vietnam War. Her goal is to shed light on those who are struggling with the many debilitating conditions from Agent Orange and other Rare Diseases; to advocate for those who are struggling to find Help, their voice, and are unable to advocate for themselves. TRANSCRIPT s8e10- PodcastDx-...
info_outlineOur guest this week is Shannon Wyatt. Shannon has an extremely rare condition called von Hippel-Lindau Chuvash Polycythemia (we will abbreviate to VHL). Her only symptom that led to finding VHL was that she was diagnosed with kidney cancer at 34 years old, that didn’t even have any noticeable symptoms, it was just an incidental finding on an MRI, but when they took it out, they found it was malignant. A few years later, it was pulmonary embolisms in both lungs after a routine gallbladder removal that pointed to Chuvash Polycythemia after many previous labs had raised suspicion of it.
Common signs and symptoms for VHL include:
Tumors and hemangiomas of the kidneys, pancreas, adrenal glands, liver, eyes, brain and spinal cord
Chuvash Polycythemia is typical know for causing:
Noticeable symptoms are fatigue, headaches, a reddish complexion, and itching. Dangerous underlying issues are blood clots and high pulmonary blood pressure with low systemic blood pressure.
Chuvash polycythemia is a rare, inherited disorder that is endemic to the Chuvash Republic of Russia, though it does occur in other parts of the world. NIH studies rare diseases not only to help the people who have them, but also to gain insight into gene functions that may benefit people with more common conditions. Complications of Chuvash polycythemia include blood clots and cerebral hemorrhage. The condition results from a genetic mutation that makes people unable to break down hypoxia inducible factor 2α (HIF2α), a protein that helps stimulate red blood cell production. The inability to degrade HIF2α leads to higher red cell production, even under high-oxygen conditions.