Podcasts about homocystinuria

HIGH YIELD 2: Marfan's vs Homocystinuria vs Ehlers-Danlos High yield review for the USMLE Step 1 exam. Marfan's syndrome, Ehlers-danlos, and homocystinuria are three distinct diseases that affect connective tissue. They share similarities like tall stature, long fingers, scoliosis, high arched palate, chest wall deformities, joint hypermobility, and lens dislocation. Marfan's syndrome is caused by FBN1 gene mutation on chromosome 15, and it results in defective fibrillin-1. It causes aortic root dilation, and upward lens dislocation. Homocystinuria is caused by a defect in homocysteine breakdown, and it results in elevated levels of homocysteine, which is toxic to the body. It causes thrombosis and downward lens dislocation. Ehlers-Danlos syndrome is caused by a deficiency in type III collagen, and it results in hyperextensible skin, easy bruising and bleeding. It can cause vascular rupture, and it usually occurs in the arterial system. Patients with Marfan's syndrome present with scoliosis, long fingers and toes, and caved-in chest wall. Patients with homocystinuria present with developmental delay, long fingers and toes, and upward lens dislocation. Patients with Ehlers-Danlos syndrome present with recurrent bruising, soft hyperextensible skin, and joint hyperextensibility

4.04 Systemic Lupus Erythematosus Rheumatology review for the USMLE Step 1 Exam Marfan's syndrome, Ehlers-danlos, and homocystinuria are three distinct diseases that affect connective tissue. They share some clinical features like tall stature, long fingers, scoliosis, high arched pallet, chest wall deformities, joint hypermobility, and lens dislocation. Marfans is caused by a mutation in the FBN1 gene, resulting in defective fibrillin-1, and the main complication is aortic root dilation. Homocystinuria is a metabolic disorder caused by a defect in homocysteine breakdown, leading to elevated levels of homocysteine, and the main complication is thrombosis. Ehlers-Danlos is caused by a deficiency in type III collagen, and the main complication is vascular rupture. Marfans has an upward lens dislocation, homocystinuria has a downward lens dislocation, and Ehlers-Danlos has hyperextensible skin and joint hyperextensibility. Marfans usually presents in teens, homocystinuria in children, and Ehlers-Danlos in young adults. Patient presentations: Marfans - scoliosis, long fingers, and caved in chest wall in a tall teen; Homocystinuria - developmental delay, long fingers, and tall stature in a child; Ehlers-Danlos - recurrent bruising, hyper extensible skin, and joint hyperextensibility in a young adult.

$5 Q-BANK: https://www.patreon.com/highyieldfamilymedicine Intro 0:30, Galactosemia 1:36, Hereditary fructose intolerance 3:37, Essential fructosuria 4:21, Glycogen storage diseases 4:43, Period Acid Schiff and Diastase test (PAS-D) 5:57, Von Gierke disease 5:13, Pompe disease 6:33, Cori disease 7:41, Andersen disease 8:16, McArdle disease 8:56, Phenylketonuria 11:05, Alkaptonuria 12:56, Maple syrup urine disease 14:14, Homocystinuria 15:56, Urea cycle disorders 17:35, Fatty acid metabolism disorders 19:09, Lysosomal storage diseases 20:25, Tay-Sachs disease 20:53, Niemann-Pick disease 22:02, Gaucher disease 22:39, Metachromatic leukodystrophy 23:34, Krabbe disease 24:36, Hurler disease and Hunter disease 25:36 Fabry disease 26:28, Lesch-Nyhan syndrome 27:26, Adenosine deaminase deficiency 28:15, Practice questions 28:42

This episode is all about inborn errors of metabolism and who better to talk to than Danielle Vice, an amazing metabolic dietitian and a special friend of mine. We have a great conversation about metabolic conditions that might pop up on the exam. This conversation is sure to make you fall in love with metabolics. And at the very least, you'll be reminded why dietitians are so incredible and important.  This is what you'll learn in this episode: How to manage the diet for people with Phenylketonuria (PKU) and why dietary management is so incredibly important MNT for homocystinuria An overview of Maple Syrup Urine Disease (MSUD) A review of Urea Cycle Defects An update on galactosemia and the most recent recommendations for dietary management  Metabolics is a great reminder of why dietitians take so many classes in chemistry (biochemistry, organic chemistry) and how important metabolic pathways are for metabolism. When something goes wrong, Registered Dietitians are the experts in dietary management.  If you're interested in learning more about metabolics, here are some great resources to help you expand your knowledge:  Metabolic University Genetic Metabolic Dietitians International  And I give a big shout out to another fabulous RD who just passed the RD Exam. I love this community so much and am so honored this podcast helps so many listeners get across the finish line. Be sure to listen while I welcome this incredible RD to the RD community. 

On this week's episode of the Genetic Genius Vibe Dr. LuLu discusses the importance of the MTFHR gene and its mutations. Here are some High Vibe topics she discusses. 1. What is the MTHFR enzyme & gene? 2. What is Homocystinuria? 3. Why is it important for pregnant mothers to test for the MTHFR mutation? 4. Are there other health problems connected to MTHFr variants to be concerned about? 5. Why is it important to also test B12 levels? To learn more about MTHFR & mutations download Dr. LuLu's freebie https://chipper-crafter-6073.ck.page/6c5340aa69 or tap link in the bio. To learn more about Dr. LuLu Shimek, purchase her new book, and make an appointment please visit www.doclulu.com Follow Dr. LuLu @drlulushimek on Instagram, Facebook, Twitter and Linkedin To join her new membership, please visit https://doclulu.com/genetic-vibes-membership

Siblings Colbie (11) and Cayle (9) were diagnosed with homocystinuria (HCU), a rare inborn error of metabolism, when they were young children. With their parents Cole and Sarah, they share their feelings on HCU. Cole and Sarah talk about the early days of adjusting to diet management and their journey to accepting HCU and focusing on all that Colbie and Cayle can do.   This episode was produced by Alletta Cooper, Ulrike Reichert, and Kate Miley for Nutricia North America. The music featured in this episode is Look Inside by Sirus Music, Endless Story by Nick Petrov, and Everything's OK by Porter Productions. Contact us at NutritionServices@nutricia.com or NutriciaMetabolics.com

In the twentieth episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we interview Ashley Longthorn, an HCU patient in the UK. We discuss dealing with HCU and the importance of staying on diet. We wrap up with Lindsey's Low-Pro Bites. We discuss million dollar spaghetti and rate it on our random fruit or veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE!   Please share the podcast and give us a 5 star rating and review! HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! HCU Network America on Twitter Check out HCU Network America!

We had the pleasure of interviewing Alex Orange Drink over Zoom video! Brooklyn-based songwriter Alex Orange Drink, the solo moniker for Alex Zarou Levine of The So So Glos, is excited to present “Oxytocin (Luv Buzz),” the second track to be lifted from the Friday, September 17 release of his sophomore album titled Everything Is Broken, Maybe That's O.K. (pre-order). On the upcoming album, Alex explores personal subjects, including grappling with a rare and life-threatening disorder, heartbreak, never-ending teenage angst, and broken political systems. Half of the album was recorded before the pandemic in a party-like atmosphere – with basic tracking captured live among friends, family and lovers – while the other half was completed by a heartbroken protagonist reflecting in isolation.Alex Zarou Levine has been writing music and lyrics since youth in Bay Ridge, Brooklyn. Most notably with his brothers in D.I.Y. punk outfit The So So Glos. There's dark subtext to his lyrics, which are often laced into bright, hooky outsider anthems. During a period in which his band went on hiatus and local DIY venue (and home base) Shea Stadium shuttered, Alex Orange Drink was born. The new solo project took its name “orange drink” as a nod to the medication Alex depends on to treat a rare metabolic disease, Homocystinuria. As with his work in The So So Glos, by flipping a slang term from the ordinary to a new identity, Alex once again exhibited a gift for spinning a negative force into something positive.On his sophomore record, Everything Is Broken, Maybe That's O.K., a permanent state of teenage angst manifests itself through even more hushed tones and sugar-coated sweetness than his debut, resulting in a more complex, vivid soundscape.There is something eerily medical about this collection of songs – two contrasting songs about grappling with a life-threatening disorder (“Homocystinuria Pt. 1” & “Pt. 2”), three songs about chemical addictions triggered by love (“Oxytocin,” “It's Only Drugz,” “I L.U.V. I.O.U.”), plenty of references to the intersection of technology and mental health (“Clickbait, Click Me”), and a closing track that implies that a cure may be found in a return to the natural world (“The Sun Is Only Shining”). Lyrically, Alex delves even further into brave personal territory, continuing to explore his own individual crises and life story in a world that's even more disjointed and damaged than before.Collaborating again with producer Adam Reich (who was behind the board for an impressive list of classics from Brooklyn's D.I.Y. scene), dark subject matter is transformed into positive energy, enriching the music more than any of Alex's previous recordings. If the most cohesive and fulfilling music of Alex's career is the outcome of everything being broken, then maybe that's O.K. .We want to hear from you! Please email Tera@BringinitBackwards.com.www.BringinitBackwards.com#podcast #interview #bringinbackpod #AlexOrangeDrink #TheSoSoGlos #zoomListen & Subscribe to BiBFollow our podcast on Instagram and Twitter! 

In this episode, we interview Danae Bartke, the executive director of HCU Network America. We discuss dealing with HCU and school and navigating the Covid-19 pandemic with HCU. We wrap up with Lindsey's Low-Pro Bites. We discuss a fantastic enchilada bake and rate it on our random fruit or veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE!   Please share the podcast and give us a 5 star rating and review! HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! HCU Network America on Twitter Check out HCU Network America!

In the sixteenth episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we interview Pam Penrose. We discuss her journey in being diagnosed and dealing with HCU. We wrap up with Lindsey’s Low-Pro Bites. We discuss vegetarian Zuppe Toscana and rate it on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE!   Please share the podcast and give us a 5 star rating and review! HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! Check out HCU Network America!

In the fifteenth episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we interview Breun and Jeremy Smeltser. We discuss their journey in raising kids who have been diagnosed with HCU. We wrap up with Lindsey’s Low-Pro Bites. We discuss shredded carrot BBQ and rate it on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE!   Please share the podcast and give us a 5 star rating and review! Pulled BBQ Carrots HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! Check out HCU Network America!

In the fourteenth episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we interview Amber Gibson, recipe coordinator for HCU Network America. We discuss low protein recipes and managing a low protein diet for adults and kids. We wrap up with Lindsey’s Low-Pro Bites. We discuss eggplant vegetale (insert Ben’s bad Italian accent here)and rate it on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE! Please share the podcast and give us a 5 star rating and review! Cauliflower Curry HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! Check out HCU Network America!

In the thirteenth episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we interview Frank Glavin (CEO) and Jeanie Price (Executive Director of Clinical Operations) of Orphan Technologies. We discuss OT-58 and the natural history study. We wrap up with Lindsey’s Low-Pro Bites. We discuss cauliflower curry and rate it on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE! Please share the podcast and give us a 5 star rating and review! Cauliflower Curry HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! Check out HCU Network America!

Danaé was 10 years old when her younger brother’s lens dislocation led to her own diagnosis of Homocystinuria (HCU). When Danaé was 24 years old, she developed a blood clot in her wrist that served as a wake-up call for her to focus on her health and to learn how to eat a low-protein diet. She became involved with the local PKU Organization of Illinois, connecting with others who had a different diagnosis but similar dietary restrictions. Today, Danaé is the co-founder and Executive Director of HCU Network America, whose mission is to help patients with HCU and related disorders manage their disease and find a cure. Story Reference Points: What is Homocystinuria (HCU)? @ 1:50 Danaé’s path to a diagnosis @ 3:30 Treatment for Homocystinuria @ 12:26 HCU: A Challenge for Newborn Screening @ 14:58 Danaé’s turning point: a blood clot in wrist @ 19:07 Connecting with a local PKU organization and tackling the challenges of a low-protein diet @ 25:11 The beginnings of HCU Network America @ 33:42 HCU Network America’s work and NBS challenges @ 40:32 HCU Network America’s challenges in reaching metabolic clinics @ 46:47 Importance of and lack of access to metabolic dietitians, particularly during pregnancy @ 52:39 Shout out to Kisha Johnson, Danaé’s metabolic genetic counselor @ 57:41 Links and Resources HCU Network America Read Danaé’s story along with other Patient Stories on the Grey Genetics Patient Stories Page Find a metabolic clinic that treats patients with homocystinuria Additional metabolic clinics More on Newborn Screening: Baby’s First Test Connect with HCU Network America on Social Media: HCU Network America on Twitter: @HCUAmerica HCU Network America on Instagram: @hcu_network_america HCU Network America on Facebook HCU Network America on YouTube Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

In the twelfth episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we interview Amanda Nethery, an HCU patient, and she shares her journey with HCU. We wrap up with Lindsey’s Low-Pro Bites. We discuss cauliflower gnocchi and rate it on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE! Please share the podcast and give us a 5 star rating and review! HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! Check out HCU Network America!

In the eleventh episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we talk about New Year’s resolutions concerning HCU. We also talk about surgery prep with HCU, and eating at restaurants on a protein budget. Yes, a protein budget. Ben coined that phrase. We wrap up with Lindsey’s Low-Pro Bites. We discuss cauliflower crust pizza and rate it on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE! Please share the podcast and give us a 5 star rating and review!   HC&U on Facebook   Find Our Low Protein Ideas on Instagram!   HC&U on Twitter   HC&U Blog   Email us at hcupodcast@gmail.com!   Check out HCU Network America!

In the tenth episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we interview Ben’s sister, Breanna (Phil)! She talks about following a low protein diet for a week. We wrap up with Lindsey’s Low-Pro Bites. We discuss Lindsey’s veggie casserole and rate it on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE! Please share the podcast and give us a 5 star rating and review! HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! Check out HCU Network America!

In the ninth episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we discuss emergency preparedness, famous vegetarians, and vegetarian Thanksgiving probs! We wrap up with Lindsey’s Low-Pro Bites. We discuss Lindsey’s veggie casserole and rate it on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE! Please share the podcast and give us a 5 star rating and review!   HC&U on Facebook   Find Our Low Protein Ideas on Instagram!   HC&U on Twitter   HC&U Blog   Email us at hcupodcast@gmail.com!   Check out HCU Network America!

In the eighth episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we continue to discuss HCU Awareness Month! We also have a very special guest, pediatrician, biochemical geneticist, and all around HCU rockstar, Dr. Harvey Levy of Boston Children’s Hospital! We wrap up with Lindsey’s Low-Pro Bites. We discuss buffalo cauliflower dip and rate it on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE! Please share the podcast and give us a 5 star rating and review! HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! Check out HCU Network America! Inspiration for some of Dr. Levy’s interview questions!

In the seventh episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we discuss HCU Awareness Month! We talk about the timeline of homocystinuria, the calendar of awareness “challenges,” and ALL THE FALL THINGS! We wrap up with Lindsey’s Low-Pro Bites. We discuss not so chicken pot pie and rate it on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE! Please share the podcast and give us a 5 star rating and review! HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! Check out HCU Network America!

In the sixth episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we also have a set of three guests! Ben’s parents share what it was like raising a child with HCU. Also, Ben’s sister makes an appearance to save any complaining that may have occurred otherwise. We wrap up with Lindsey’s Low-Pro Bites. We discuss low protein gyros and rate them on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE! Please share the podcast and give us a 5 star rating and review! HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! Check out HCU Network America!

In the fifth episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we also have our third guest, a very dapper fellow who shares his experience with HCU. Hint hint, it’s Ben!Danae Bartke! We wrap up with Lindsey’s Low-Pro Bites. We discuss zucchini boats and rate them on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE! HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! Check out HCU Network America! Free HCU Bear!

In the fourth episode of HC&U, we have our regular “Tell Me Something Good” segment where we share several bits of good news regarding the podcast! In this episode, we also have our second guest, Danae Bartke! She discusses experiencing pregnancy while having homocystinuria. We wrap up with Lindsey’s Low-Pro Bites. We discuss stuffed bell peppers and rate it on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** Want a FREE T-shirt? We are asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, these shirts are pretty sweet. Oh, and did we mention? They are FREE!   HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! Check out HCU Network America! Free HCU Bear!

In the third episode of HC&U, we discuss the first ever HCU Conference which was held in Westford, Massachusetts. It was called Taking the Lead for HCU, and it was a blast! In this episode, we also talk about traveling with homocystinuria and provide some tips for managing medication while traveling. We wrap up with Lindsey’s Low-Pro Bites. We discuss jackfruit “pulled pork” sandwiches and rate it on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** We are also asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, we are working on some swag for people who share their good news and are chosen for a shoutout on the podcast! HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! Check out HCU Network America!

In the second episode of HC&U, we discuss low protein food providers. These providers include Cambrooke Therapeutics, Taste Connections, PKU Perspectives, Loprofin, Lil’s Dietary Specialty Shop, and Mevalia. In this episode, we also welcome our first guest, Sarah Chamberlin! We discuss the Medical Nutrition Equity Act with Sarah and tell listeners how to get involved! Visit howmuchphe.org to see unrounded protein content of various food. We wrap up with Lindsey’s Low-Pro Bites. We discuss Lindsey’s Italian bake and rate it on our random veggie scale! We hope you enjoy! **FREE SWAG ALERT** We are also asking listeners to tell us something good regarding your experience with HCU! This could be anything from getting your levels down, finding a new recipe, or finding a better metabolic formula! Reach out to us using one of the methods listed below! We would love to hear from you! Plus, we are working on some swag for people who share their good news and are chosen for a shoutout on the podcast! HC&U on Facebook Find Our Low Protein Ideas on Instagram! HC&U on Twitter HC&U Blog Email us at hcupodcast@gmail.com! Check out HCU Network America!

Genetic Counselor Christina Kresge talks about her most memorable cases from providing pediatric and adult genetic counseling services to an underserved population in and around Newark, NJ over the past eight years. She also shares her own recent experience as a patient going through her first pregnancy, grappling with the implications of a positive carrier testing result. Story Reference Points: Patient story #1: Myotonic Dystrophy @ 4:34 Patient story #2: Sialidosis @ 9:15 Patient story #3: A rare recessive condition and an unexpected finding on microarray @ 14:49 Patient story #4: Newborn Screening and Homocystinuria @ 22:49 Patient story #5: Christina’s own story with prenatal carrier testing @ 25:41 Links and Resources Information on Myotonic Dystrophy from the Muscular Dystrophy Association Facebook group for Sialidosis Information and Resources related to High ROH (Regions of Homozygosity) Newborn Screening Resource National Organization for Rare Diseases (NORD) Rare Advocacy Movement (RAM) Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.