DDx

After a lifetime of treating her rare bone disease, X-linked hypophosphatemia, a patient is at the end of her rope. Due to a genetic variation of the X chromosome — specifically the PHEX gene — there’s an imbalance of phosphate levels in her body. Because of its domino effect on bone development and mineralization, the patient is in pain, she’s frustrated, and nothing seems to help. So when a clinical trial opportunity presents itself, Dr. Suzanne Jan de Beur, a professor of medicine and the Chief of Endocrinology and Metabolism at the University of Virginia, is unsure the patient will want to participate. While the decision to participate is surprising, the results of the clinical trial are astonishing.

It’s a summer day and a 45-year-old is out for a drive. As she accelerates her stick-shift car, she starts to experience familiar, and scary, symptoms: facial tingling, numbness around her mouth, and a sharp pain in her hands. Her hands cramp and lock onto the steering wheel. Fortunately, she makes it home safely, but it will take many wrong turns and the help of Dr. Google to determine a diagnosis of hypoparathyroidism, a rare bone disorder. Dr. Michael Mannstadt, the Chief of the Endocrine Unit at Massachusetts General Hospital and Associate Professor in Medicine at the Harvard Medical School in Boston, shares this patient’s story and how a clinical trial changed this patient’s life.

A local pool in the summer is teeming with kids. A 9-year-old does a cannonball into the shallow end. As she surfaces, a stab of pain shoots through her hip. As days pass, what seems like a straightforward bump takes a complicated turn. Dr. Edward Hsiao, an endocrinologist and Director of the UCSF Metabolic Bone Clinic at the University of California, describes how after discovering a new bone growth at the site of the pain and several rounds of major (and unsuccessful) interventions, the child is diagnosed with fibrodysplasia ossificans progressiva. This extremely rare bone disorder has a devastating impact on a patient’s life. But thanks to unexpected areas of research, patients have new reasons to hope.

In an examination room, an ultrasound technician moves a wand over a patient’s belly. The patient is 20 weeks pregnant. Usually, these appointments bring good news, but the news this day is devastating: the baby’s bones are broken and bowed. Despite this, the baby is born and does well. After testing, all signs point to hypophosphatasia for Dr. Eric Rush, a clinical geneticist at Children’s Mercy Hospital and the University of Kansas Medical Center, and an Associate Professor of Pediatrics at the University of Missouri-Kansas City, who shares this patient’s story. And thanks to the life-changing treatment of enzyme replacement therapy, today, this child and many others with this rare bone disease are living happy, healthy lives.

In a bustling maternity ward, an infant has a case of newborn hiccups. But this quickly transforms into labored breathing. A chest X-ray unravels an unexpected discovery – calcium deposits around her shoulder. Follow-up tests paint a complex picture, revealing narrowed blood vessels and widespread calcifications. Genetic testing confirms a grim diagnosis: generalized arterial calcification of infancy, or GACI, a rare genetic condition with a challenging prognosis. Nearly half of infants don't survive beyond six months. But as Dr. David Weber, a pediatric endocrinologist and the Medical Director for the Center for Bone Health at the Children's Hospital of Philadelphia, shares, a revolutionary clinical trial could potentially transform this child's life and the lives of others with this disease.

On a December morning, a 62-year-old goes for a walk. There’s snow on the ground and she loses her balance. She falls and fractures her wrist. This simple fracture reveals underlying osteoporosis, requiring lifelong (and expensive) medication. But as you’ll learn from Dr. Richard Eastell, an endocrinologist and professor of Bone Metabolism at the University of Sheffield, this is where biosimilars come in. Biosimilars are extremely similar — hence the name — to the original biological drug they're designed to imitate. The excitement around biosimilars is that they’re cheaper, making them more accessible to more people, meaning fewer fractures … better health … a better economy … and ultimately, a better quality of life.

A 5-year-old child and his parents boarded a plane heading for a new life. They were Syrian refugees, who fled conflict in their country and then lived a difficult life in a refugee camp. Now they were heading to Canada. But soon after arriving, there’s a problem. The child has hemophilia and due to hemophilia complications, a minor injury while traveling became a major concern. Add to this a language barrier and trying to understand a new culture. Dr. Robert Klaassen, a pediatric hematologist and lead of the Comprehensive Hemophilia Care Clinic at Children's Hospital of Eastern Ontario in Ottawa, Canada, shares his experience working with a family who overcame incredible barriers and the lessons learned along the way.

It was supposed to be a simple, low-risk procedure, but for this 61-year-old patient with undiagnosed hemophilia, undergoing a lithotripsy for kidney stones proved to be anything but. The patient was born in the 1950s in Taiwan, when many people in the country had never heard of the disease. So, despite signs throughout his life, the patient’s hemophilia diagnosis evaded him for decades. Dr. Yeu-Chin Chen, a hematologist at the Tri Service General Hospital's Hemophilia Care and Research Center in Taipei, Taiwan, shares this patient’s journey and how doctors should be on the lookout for signs of hemophilia, while understanding that symptoms can vary from patient to patient.

A young child living with severe hemophilia is adopted by a family in the United States. Prior to his adoption, due to a lack of resources and other challenges, his hemophilia was not properly managed. Dr. Meera Chitlur, a pediatric hematologist and the director of the Hemophilia Treatment Center at the Children's Hospital of Michigan in Detroit, has treated this patient since he first came to the U.S. As he grew older, like many children, he wanted to play sports. But for people with hemophilia, participating in sports brings great risk. Dr. Chitlur shares how together with the patient and his family, they navigated the challenges of growing up with hemophilia and how new treatment options for pediatric hemophilia have opened up a whole new world for kids living with the disease.

About 40 years ago a mother brought her 6-month-old child into the hospital. He was covered in bruises. Dr. Victor Blanchette, a pediatric hematologist at the Hospital for Sick Children in Toronto, Canada, met the patient that day and, following a severe hemophilia diagnosis, has treated the patient ever since. Dr. Blanchette recounts how during the patient’s childhood in the 80s, the approach to treating hemophilia was reactive, not proactive. This meant that normal childhood activities could lead to devastating bleeds. During this episode, we walk through the history of hemophilia and how its evolution toward preventive care has had an incredible impact on this patient and so many others.

A 30-year-old was in labor with her first child. Everything was going to plan … until it wasn’t. Dr. Azusa Nagao, a hematologist at Ogikubo Hospital in Tokyo, Japan, shares a case that illustrates how historically it was thought that women and people assigned female at birth could only be carriers of the disease, not have the disease themselves. This misunderstanding of hemophilia in women has led to women going undiagnosed and untreated with severe repercussions. For the patient in this story, it meant a frightening and dangerous birth experience that put her and her child at risk. Dr. Nagao also outlines efforts to educate patients and physicians about hemophilia, what to look for, and how to treat it.

A patient was experiencing severe knee pain. Unfortunately, this wasn't anything new. For decades, he’d been suffering from joint disease, caused by severe bleeding in his knees from a rare blood disorder — hemophilia A. The patient was born in the 1960s, a time when the life expectancy for patients with hemophilia was only 10 years. But as Dr. Annette Von Drygalski, a board certified hematologist and the director of the Hemophilia and Thrombosis Treatment Centre at the University of California, San Diego, explains, advances in hemophilia treatment throughout this patient’s life allowed him — and many others like him — to live a longer, richer life.

Go inside the minds of doctors who specialize in hemophilia — a rare, inherited bleeding disorder that once meant possibly not surviving past the age of 20. This season, we’ll explore the medical milestones that enable patients today to live longer, richer lives and examine the challenges yet to be tackled.

What can you do when your attending physician is a bully? Hear from two nurses, Melissa and Laura, about their experiences being bullied by a physician. For Melissa, it was notifying an on-call physician that a baby was ready to be delivered, only to be scolded for calling too soon. For Laura, it was being reprimanded by a physician who questioned her abilities as a nurse in front of a patient. So how do you respond to a bully, especially when the bully is in a position of power? Connie spoke with Carolyn Smith, an associate professor and associate dean of research, and author of "Standing Up Against Workplace Bullying Behavior: Recommendations From Newly Licensed Nurses" for insight. Carolyn, Melissa, and Laura all weigh in on standing up for yourself, calling out bullying, and sticking to your boundaries.

When is it okay to admit that you don’t know how to do something? Hear the story of Tamara Kuhn, a bedside telemetry nurse, who in a moment of crisis, used her problem-solving skills to keep her patient (and herself) safe. Tamara was caring for a patient who suddenly became violent. After calling for help, Tamara was given what she thought would be a standard restraint system. But what she received was not equipment she was used to. So how do you set yourself up for success in these situations? Connie spoke with Jill Clemmons, an acute care nurse practitioner, for insight. Jill discusses how taking care of yourself, preparation, and finding your why are key to navigating difficult situations.

What do you do when you know something is wrong with a patient, but don’t have the data to back it up?Hear the story of Diana Struthers Stanton, who, at the beginning of her 46 years in nursing, cared for a 10-year-old patient with Reye syndrome. The patient’s capillary refill had changed and was slowly getting worse and worse.Concerned, Diana spoke to her charge nurse and was told not to worry about it.She spoke with her colleagues who also told her not to worry.She paged the on-call resident in the middle of the night, but got the same response.Diana’s gut was telling her something was wrong, but she lacked the clinical data to back it up.So what do you do?For insight, Connie spoke with Dr. Sarah Kim, a specialist in emotion-focused mindful psychotherapy, about the importance of trusting your gut.We’ll also discuss being your patient’s advocate and learning to forgive yourself when things don’t end well despite all your efforts.

How do you know when generic symptoms are masquerading as something serious? Hear the story of Molly Lalonde, a pediatric nurse practitioner, who met an 11-year-old patient with an unexpected concern.While surprised by the patient’s inquiry, Molly took the time to listen and ask questions. In response to the patient’s heightened level of concern, Molly investigated further. Following an assessment by a specialist, it turned out the patient’s concern was warranted. So how do you recognize the zebra in a herd of horses? To get another perspective, our host Connie Levie spoke with Dr. Raj Bhardwaj, an urgent care physician and host of the DDx podcast. Dr. Bhardwaj details how to zoom out and get the bigger picture, the importance of respecting the concerns of your patients (just as Molly did), and following your spidey sense.

While nursing school equips you with valuable knowledge and skills, it doesn't prepare you for the real-life challenges you’ll face on the floor.They Don't Teach That In Nursing School is your go-to guide, offering unique solutions to the unexpected problems you'll encounter as a nurse.Each week Connie Levie (RN) presents the story of a nurse facing a specific challenge and its possible solutions.Our episodes are snack-sized, designed for your commute, break time, or just when you need to decompress and connect to a larger community of nurses.This podcast is a must-listen for nursing students, recent graduates, and seasoned professionals alike, who want a deeper understanding of the profession.Whether you're mastering a new skill, managing difficult bosses, or thriving in your nursing career, we've got you covered with practical advice and eye-opening stories from the field.They Don't Teach That In Nursing School is a limited (four episode) series that launches on Nov 1st! Give it a listen!

DDx has been nominated for three Signal Awards. Click the links below and vote for us now!Documentary: https://vote.signalaward.com/PublicVoting#/2023/shows/general/documentaryHealth & Wellness: https://vote.signalaward.com/PublicVoting#/2023/shows/general/health-wellnessBest Writing: https://vote.signalaward.com/PublicVoting#/2023/shows/craft/best-writing

Hi DDx listeners! We’ve got something special in the works, and we want you in on it. We're developing a new podcast by and for nurses - and we're searching for a host! It’s a show about innovative solutions to the most intense challenges - whether clinical or personal - that nurses face. In each episode, you, our host, will connect with fellow nurses who are grappling with specific challenges and unravel solutions that not only elevate their practice but also enhance their overall job satisfaction.Whether you're fresh to the nursing world or a seasoned pro, your voice matters. We're building a community of curious minds, a place where your insights and wisdom can light the way for others. This is a paid - not volunteer - opportunity. So, if you're ready to embark on a journey of camaraderie, inspiration, and learning, go to https://bit.ly/NursingPodcastHost Oh and keep in mind, our submissions will close on Sept 18 - so press that record button soon! Thanks!