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Fox G1 Syndrome

PodcastDX

Release Date: 12/12/2023

Ectoparasites show art Ectoparasites

PodcastDX

This week we will discuss Ectoparasites.  The CDC says: "Although the term ectoparasites can broadly include blood-sucking arthropods such as mosquitoes (because they are dependent on a blood meal from a human host for their survival), this term is generally used more narrowly to refer to organisms such as ticks, fleas, lice, and mites that attach or burrow into the skin and remain there for relatively long periods of time (e.g., weeks to months). Arthropods are important in causing diseases in their own right, but are even more important as vectors, or transmitters, of many different...

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Pasteurization For Your Health show art Pasteurization For Your Health

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Over 200 years ago Louis Pasteur was born in Dole, France. Among Pasteur's major contributions and their benefit to society, the most important is the heat treatment of foods and beverages to reduce spoilage and eliminate pathogens for consumers. Probably the greatest achievement of Pasteur was the process that bears the name of this famous scientist who perfected the technique: pasteurization. For liquids, this process does not involve boiling the product to sterility but simply applying just enough heat (ie, par-boiling) to 50–60°C for a specified period to reduce spoilage microbes and...

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Spontaneous Pneumothorax with Jack show art Spontaneous Pneumothorax with Jack

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In this episode we are talking again with our audio editor Jack Scaro.  The topic again is: spontaneous pneumothorax, or collapsed lung. Spontaneous pneumothorax is an abnormal condition of the lung characterized by the collection of gas in the pleural space between the lungs and the chest wall. This condition occurs without an obvious etiology and can be classified as either primary or secondary. Patients may present with symptoms such as tachycardia and dyspnea. The diagnosis is based on clinical suspicion and can be confirmed with imaging.  Jack had this condition which surprised...

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Bile acid malabsorption (BAM) part 2 show art Bile acid malabsorption (BAM) part 2

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This week we will continue our coverage of Bile acid malabsorption (BAM),  a . It’s a common cause of . When bile acids aren’t properly absorbed in your intestines, they build up, upsetting the chemical balance inside. Excess bile acids trigger your  to secrete extra water, leading to watery stools. This week we will continue our coverage of Bile acid malabsorption (BAM),  a . It’s a common cause of . When bile acids aren’t properly absorbed in your intestines, they build up, upsetting the chemical balance inside. Excess bile acids trigger...

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Bile Acid Malabsorption show art Bile Acid Malabsorption

PodcastDX

This week we will discuss Bile acid malabsorption (BAM),  a . It’s a common cause of . When bile acids aren’t properly absorbed in your intestines, they build up, upsetting the chemical balance inside. Excess bile acids trigger your  to secrete extra water, leading to watery stools. ​ What are bile acids? Bile is a substance your  makes while filtering your blood. Your liver sorts waste products, such as toxins, dead blood cells and excess cholesterol into bile. Bile acids come from synthesizing these products together. The different acids in bile help...

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Veteran's Hesitancy to Healthcare show art Veteran's Hesitancy to Healthcare

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This week we will discuss a Veteran's hesitancy to receive healthcare at the government hospital system known as Veterans Administration or "VA".  Although many veterans may share the concern over receiving care through a government agency due to the medical care they got while in training or active duty; i.e. sucrettes and tylenol being the standard of care when Jean Marie and I were in training. Our guest, Mark Frerichs, has different reasons to question the quality of care. Mark, a Navy veteran who continued working as a contractor post-war in Afghanistan.  It was during his work...

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Adrenal Insufficiency show art Adrenal Insufficiency

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In this episode we discuss adrenal insufficiency  You can have either primary, secondary, or tertiary adrenal insufficiency. Primary adrenal insufficiency is also called Addison’s disease. When you have this type, your adrenal glands are damaged and can’t make the cortisol you need. They also might not make enough aldosterone. Secondary adrenal insufficiency is more common than Addison’s disease. The condition happens because of a problem with your pituitary gland, a pea-sized bulge at the base of your . It makes a hormone called adrenocorticotropin (ACTH). This is the...

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Heart Attack on a Train show art Heart Attack on a Train

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Have you ever wondered "what would happen if you or a family member had a medical emergency while using public transportation"  Today we feature Bill H. who had a cardiac event after boarding a Chicago Metra train and the two bystanders that weren't about to let these be his LAST train ride!    can help save lives during sudden cardiac arrest. However, even after training, remembering the steps to use an AED the right way can be difficult. In order to help keep your skills sharp, we've created a quick step-by-step guide that you can print up and place on your refrigerator, in...

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EDS and Gastroparesis show art EDS and Gastroparesis

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This week we are speaking with Dani, AKA, Stoned Zebra. It took almost 7 years of her health declining after giving birth, until she finally received her EDS diagnosis. She was initially misdiagnosed with Lupus, Fibromyalgia, Neuropathy, or chronic pain syndrome.  Her gastroparesis, symptoms (bloating, nausea, early satiety, severe constipation, weight loss, dehydration, belching, belly pain) began July 2022, and after a ton of aggressive testing, she was diagnosed in May 2023.  EDS just tacks on chronic pain, joint instability and other comorbidities like POTS, MCAS, and OH that...

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Long Covid With Grace Miller show art Long Covid With Grace Miller

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This week we will discuss a topic that is of concern for millions of people: "Long Covid" and our guest this week is Grace Miller.  Grace is 20 years old, and lives in Iowa. Currently attending college, where she is president of the honor society and finishing up her gen eds. She plans on pursuing a degree in Communication Disorders and become a speech pathologist. Some of her hobbies include crocheting, singing, playing the piano, and learning.  Some people who have been infected with the virus that causes COVID-19 can experience long-term effects from their infection, known as Long...

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This week we are talking about a rare condition, FOXG1.  This  syndrome is a rare genetic neurodevelopmental disorder caused by a mutation in the FOXG1 gene. FOXG1 gene is one of the first and most important genes for early brain development and when impaired, causes cognitive and physical disabilities as well as medical complexities including epilepsy.

Every child born with FOXG1 syndrome is unique as FOXG1 manifests as a spectrum where symptoms and severity vary between individuals. Our patient data shows characteristics of children with FOXG1 syndrome include: nonverbal, non-ambulatory, experience seizures, feeding problems, cortical vision impairment, movement disorders, and developmental delays. Less-severely-affected FOXG1 children often present with (ASD) Autism Spectrum Disorder as FOXG1 is an autism related gene. FOXG1 syndrome is found equally among both females and males and is geographically more prevalent where diagnostic testing is more advanced. (credits: The FoxG1 Foundation)

Our guest is a mother to a child with FoxG1, Ilissa Reich.  Ilissa is a former fashion executive who transformed her career into being a fierce advocate for families of children with special needs.

When her now-3-year-old son, Eli, was diagnosed with FOXG1 Syndrome, a rare brain disorder with no cure, she spun into action and co-founded Believe in a Cure (webelieveinacure.org), a 501(c)(3) non-profit foundation working to develop a treatment for FOXG1.


Founded in 2019, Believe has raised millions of dollars and funded over 40 research and development projects around the world.

long the way, the foundation has partnered with preeminent institutions ranging from the National Institutes of Health to Harvard, MIT, and Tel Aviv University, to biotechnology companies in Europe, Asia, and the United States.

Renowned scientists from industry and academia serve on the scientific advisory board of the foundation, and several notable leaders serve on the foundation’s lay advisory council, including former U.S. senators Joe Lieberman and Paul Kirk, the former CEO of Staples Ron Sargent, mediation czar Ken Feinberg, and many more.
This journey has opened Ilissa’s eyes to the experiences of countless other families who struggle each day, and despite her own anguish, Ilissa endeavored to create a platform for mothers of kids with special needs to build community and offer support.

She has appeared on the Today show, in People magazine, and a host of other outlets profiling her efforts.

A native Long Islander, Ilissa previously worked in fashion at notable brands Tibi, Free People, Splendid, and Alternative Apparel.

She studied business in college at The George Washington University. She lives in Port Washington with her husband, Scott, and their three children.

Ilissa Reich

When asked: 'What has enabled you to be successful?' she responded-

“I always aspire to be a good role model for my children. I want to be someone they’re proud of.”