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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!

SPECIAL ANNOUNCEMENT FROM RAJ

Following a normal first trimester, a pregnant patient starts spotting. The patient’s care provider books an urgent ultrasound to see what is causing the bleeding. The main concerns are if the spotting is caused by a miscarriage or something else.Following the ultrasound, the technician calls in obstetrician Dr. Ashley Brant to review the results with the patient. There is a problem with the fetus’ heart — specifically, a condition called hypoplastic left heart syndrome. Essentially, the left side of the heart doesn’t develop normally and can’t pump blood in the way that it should.Hypoplastic left heart syndrome causes poor oxygenation, meaning the skin can be bluish or with dark discolorations. It also causes difficulty breathing, feeding, and lethargy. Treatment includes multiple surgeries after birth, and can even require a heart transplant. Without treatment, the condition is fatal.The patient is offered genetic testing to determine if the heart condition is a symptom of a larger genetic disease. Regardless, the prognosis is grim.The patient meets with Dr. Brant to discuss all of the options, including continuing or ending the pregnancy. “I think everybody who's in a situation where they're thinking about ending a pregnancy because of a major fetal anomaly, they are thinking about what is the kindest decision, the most loving decision that they can make for their baby,” shared Dr. Brant. “Nobody wants to be in this position. And they're thinking about what the experience is going to be like for this child.”The patient makes the decision to end the pregnancy through the dilation and evacuation method. However, the procedure cannot be performed in the state because of a heartbeat law in place at the time. And so Dr. Brant refers the patient to an out-of-state clinic where the initial procedure to stop the heartbeat can be performed. But, in order to be where the patient has the support of the medical team she knows and who has been by her side, the patient returns to her home state for the final procedure. “No one ever envisions themselves needing an abortion. No one ever thinks, ‘I want to have an abortion,’ before they're in a position of needing one. I would just encourage compassion and empathy and trying to understand the life that someone else might be walking in.”

Hypoplastic Left Heart Syndrome and a Trip Across State Lines

A 35-year-old with several children discovers she is having a twin pregnancy. This is happy news, until a potential abnormality in twin B is found. Twin B is measuring much smaller than twin A — almost a full 10 to 14 days behind — and there is fluid around the fetus. While it is too early to diagnose, it appears there is a brain abnormality.The patient, with a lot of apprehension and many questions, sees high-risk obstetrician Dr. Maeve Hopkins. Genetic testing is needed for decision-making — to help determine if twin B can survive or if the patient’s life and twin A are at risk, meaning a pregnancy reduction will need to be considered. Dr. Hopkins orders a biopsy of twin B’s placenta.The results from genetic testing reveal that twin B has three sets of chromosomes, instead of two. This results in a rare genetic condition that causes severe birth defects. Most pregnancies in this situation end in either miscarriage or stillbirth. While there are very rare cases of live births, survival is generally limited to an average of five to seven days.Carrying the fetus poses significant risk to both the patient and twin A. There could be a build up of amniotic fluid and difficulty swallowing for twin B, which could lead to preterm labor symptoms and birth, as well as stillbirth. Losing twin B in utero may increase the risk of losing twin A and put the patient at risk, too.In this case, there are two options.One is expectant management, which is essentially to wait and see. The other is a multi-fetal pregnancy reduction, where the cardiac activity of twin B is stopped, and the patient continues with a single twin pregnancy. While pregnancy reduction is considered a fairly safe procedure, there is a small risk that the patient could still lose twin A.“I think she was somewhat in shock,” Dr. Hopkins shared. “And I think she wanted some guidance, which is always difficult when patients want to know what to do … it's a very personal, very familial decision for the patient … I generally say these are the risks to you, these are the possible outcomes, and these are the risks of a procedure. And a procedure likely carries less risk than continuing a twin pregnancy. And ultimately, she was able to make the decision.”The patient decides to move forward with the reduction procedure. Reflecting back, Dr. Hopkins shared, “What I've learned practicing high-risk OB is when you face a situation like this with a patient, it is impossible to know what decision that you would make if you were in that clinical situation … So just taking a step back and not necessarily trying to put yourself in the patient's shoes, but just stepping back and giving the information and just listening to the patient. I think as high-risk obstetricians, we're often the ones who have these stories and who see these patients, whether we're political or not, that's a life-saving procedure for us many times.”

Pregnancy Reduction in a Twin Pregnancy

A pregnant person is referred early in pregnancy to high-risk obstetrician Dr. Stacey Ehrenberg after an ultrasound detects an abnormally developing placenta. Dr. Ehrenberg diagnoses the patient with a molar pregnancy; a placenta that forms into a benign tumor with the potential to become cancerous. While the molar pregnancy will not survive, the patient also has a viable intrauterine pregnancy.Faced with this diagnosis, Dr. Ehrenberg counsels her patient about the risks of continuing or discontinuing the pregnancy. If the decision is made to continue, the patient risks developing mirror syndrome, a life-threatening condition marked by hypertension and edema. There is also significant risk of bleeding if any of the abnormal tissue is removed.If the decision is made to end the pregnancy, the patient faces the risks of any procedure done in a hospital; bleeding, infection, and damage to the surrounding organs, although this happens in less than 1% of cases. Regardless of the patient’s choice, Dr. Ehrenberg emphasizes that she and her team will support the patient, no matter what. The patient decides to continue the pregnancy. Dr. Ehrenberg and team develop a care plan to track both the molar pregnancy and the intrauterine pregnancy with weekly ultrasounds and blood pressure measurements. “I really watched her struggle throughout the pregnancy knowing that she knew that at some point the scale was going to tip and that this would no longer be safe for her to continue,” shared Dr. Ehrenberg. “Her hope, as was ours, was that she would be able to get far enough in pregnancy where the baby would be able to survive. She knew that this would probably be an extremely premature baby, but she was willing to take that risk to start her family.”But at 19 weeks, everything changes. “I didn't need vital signs. I didn't need to do a physical exam to know something wasn't right,” remembered Dr. Ehrenberg. “We got vital signs on her and I did a physical exam, and it was very clear to me that she had mirror syndrome and then we had to have the very difficult conversation that we knew that the baby was not yet viable, but it was no longer safe for her to remain pregnant.”The decision is clear: the only viable option is dilation and evacuation. But the procedure is not without serious complications and risks. “... These pregnancy complications are so complex,” shared Dr. Ehrenberg. “The physical aspects of it, the emotional aspects of it, the financial aspects of it … So I really just would love to see more kindness towards other people, more tolerance towards other people, more understanding that we don't understand all the time where other people are coming from and what they've been through.”

The Complicated Decision-Making of a Molar Pregnancy and an Intrauterine Pregnancy

Meet three obstetricians who perform an essential medical procedure: abortion. Learn about their patients and how abortion affects both physical and mental health. From a molar pregnancy to fetal chromosomal abnormalities, these stories illustrate the life-saving impact of abortion, and its necessity within healthcare.  

Abortion as Healthcare (a Miniseries)

It starts small. A slight pain in the foot, followed by an achy shoulder. There's some fatigue. The type of non-specific symptoms that often go ignored … until they can’t be anymore.A 37-year-old visits the family doctor, complaining of foot, shoulder and chest pain that progresses over weeks. And she's really tired. Otherwise, there’s nothing notable. She's just a busy parent. Being tired is normal, right? Sometimes that’s true, but in this case, this would prove to be a dangerous assumption. She visits her primary care provider who decides to run X-rays. There’s nothing to note other than an expanded area of cartilage at the end of the sixth rib. The doctor doesn’t think much of it at the time, but this would prove pivotal to solving the case. The patient is prescribed physical therapy, but it doesn’t help. It actually makes things worse. “She's getting very fatigued to the point where she's having to lay down in the afternoons. She can't really do her full family activities,” shares Dr. Suzanne Jan De Beur, an endocrinologist with a specialty in metabolic bone disorders at Johns Hopkins University School of Medicine in Baltimore, Maryland. “She gets terrible pain … And then eventually she was found to have a left hip fracture and needed surgery to repair the hip fracture.”This incredible progression — a hip fracture with no trauma at 39 years old — leads to more tests. She’s diagnosed with celiac disease, a wheat allergy that can cause weak bones from not absorbing vitamin D and other nutrients into the bones. This explains the fractures, but not the muscle weakness.She’s compliant with her celiac therapy, but it keeps getting worse — to the point of needing a walker. This is when the patient sees Dr. Jan De Beur. It’s at this time that a very small discovery leads to a very big diagnosis. It also leads to many lessons — one being to not only zoom in on one specific symptom, but to zoom out on a case over time so you can put the puzzle pieces of non-specific symptoms together and find your diagnosis.

Non-Specific Symptoms Lead to Complicated Diagnosis

In 1964, Nancy, a 5-year-old, is having her evening bath when her parents discover she has a lump on the skull the size of a grapefruit. This would mark the onset of a mysterious and debilitating disease that researchers are still struggling to understand. Over the next 40 days, medical professionals struggled to discover what was causing the lump on the skull. Each test seemed to exacerbate the swelling in Nancy's neck. In hindsight, that was a big clue, but it took doctors a while to recognize it. Instead, what happened next was a common mistake when it comes to patients with this disease. Nancy was diagnosed with terminal cancer. Doctors said she had less than a year. Yet, over the next few months, Nancy's condition didn't progress. She actually seemed to get better. Over the next few months, she was taken to a series of specialists. It was finally an oncologist who noticed something that was pivotal to her diagnosis ... her toes. Misshapen big toes — generally short and bending inward — are a hallmark of Nancy's disease. While Nancy had several telltale signs of the disease, diagnosing rare diseases is difficult in part because they’re exactly that: rare. “I can see how a practicing physician may feel a rare disease, ‘I'm never going to see it.’ But [this disease] is so striking that I think once you see someone with the disease … the image stays in your mind and even if someone, as a general internist or a pediatrician, never expects to see the case, you never know,” shares Dr. Eileen Shore, a medical researcher and geneticist specializing in musculoskeletal disorders at the University of Pennsylvania School of Medicine. And early diagnosis of this — and other rare diseases — is crucial, not only for treatment but to avoid diagnostic tests that can harm patients. While Nancy did finally receive a definitive diagnosis, many of the earlier diagnostic tests were actually causing more harm than good. “If you just have that in the back of your mind, that you have a vague image of what [it] is and see a patient who you think might have it,” says Dr. Shore, “to send a referral and get it confirmed, just think of the difference it would make in that family's life.” 

A Lump on the Skull and the Misdiagnosis of a Rare Bone Disease

A patient in her mid-50s complains of foot and leg pain. She's post-menopausal with low bone density. A classic case of post-menopausal osteoporosis.Not exactly. And it won’t start to become clear until it gets to the point of her having repeated metatarsal bone fractures.Let’s go back a little. It’s 2005. Our patient visits her family doctor complaining of pain in her legs and feet. But the discomfort she's experiencing isn't your typical aches and pains associated with aging. “She develops a lot of [foot and leg] pain … So much so that she required pain management for this pain and her gate started to become affected,” shares Dr. Katherine Dahir, a professor of medicine at Vanderbilt University, who specializes in metabolic bone disease.Her gait becomes wobbly and she’s experiencing an acceleration of degenerative changes in her spine. An osteoporosis screening reveals she has low bone density. She’s diagnosed with post-menopausal osteoporosis and is treated with bisphosphonates, the standard of care for patients with osteoporosis. And this is when things get much more complicated. Although all signs show an improvement in bone density, she begins to experience metatarsal bone fractures, which is highly unusual with osteoporosis. And not only does she have these unusual fractures, the fractures will not heal.  “And so that's when you need to put your thinking cap on and try and figure out, why is this patient a treatment failure?” says Dr. Dahir.To solve the case, the patient’s team studies her labs and finds a missing flag. “... It was called alkaline phosphatase, which is seen in a routine chemistry panel. Back at that time, it was only flagged if it was above the normal reference range because that usually indicates liver disease, but it wasn't flagged if it was below the normal reference range because that was considered to be non-significant.” But this finding would prove to be very significant. Combined with new research at the time, it helped identify a diagnosis for this patient — showing the importance of medical research that leads to more treatment options and more hope for patients. 

Metatarsal Bone Fractures and a Rare Bone Disease Hiding in Plain Site

A toddler is taken to his pediatrician because his parents are concerned he might be small for his age. The pediatrician diagnoses him with knock knees, but there’s no cause for alarm.Although the child doesn't have any other known medical conditions, something is happening in secret, inside his DNA that won’t be discovered until a diagnosis of hypophosphatemia is discovered some time later. And if this disease is ignored, it can quickly become deadly. But back to that first appointment. “At that time, he had a rather normal diet, was taking [multivitamins] so his intake of vitamin D was at the recommended daily allowance,” shares Dr. Michael Levine, a pediatric endocrinologist at the Children's Hospital of Philadelphia. “And because he had no other medical disorders and no other conditions that were of concern, his pediatrician decided that they would just watch him to see whether he could outgrow his knock knees, and whether this might improve his overall growth.”At the age of 7, there is little to no progress. He visits an endocrinologist. Nothing significant is found. At 10, an orthopedic surgeon operates on the child’s knock knees. Two years later, he visits Dr. Levine for the first time. “When we first saw him, we were impressed by his prior history of knock knees, which had its onset in his toddler years, and we looked carefully at the evaluation that his pediatric endocrinologist had performed some years prior that disclosed normal levels of serum calcium, normal levels of PTH, normal alkaline phosphatase, and a normal serum 25-hydroxy vitamin D, which in the mind of the first pediatric endocrinologist had effectively ruled out rickets or osteomalacia.”But one test hadn’t been done — a test for serum phosphorus level, and when the results come back showing hypophosphatemia, this becomes a key to the child’s diagnosis. “When you have a child that doesn't respond as you might expect to calcium and vitamin D,” advises Dr. Levine, “you have to take that next step and begin to ask, could this be due to a genetic defect in the vitamin D system, or could it be a genetic defect in phosphate metabolism?” As it turned out, the child’s disease was genetic, and this unlocked the path to treatment. And while everything worked out in the end, it’s hard not to think about how this story could have been very different had one simple test been run, or if genetics had been considered sooner.

Hypophosphatemia and the Secret Locked in a Child’s DNA

A 23-year-old presents to the emergency department with progressive symptoms. It starts with tingling in the fingertips that lead to leg cramps that turn into feeling like she’s turning into stone, frozen in one position with stabbing pain. And perhaps most troubling, she can't concentrate. In fact, the brain fog is so severe that she’s afraid to drive.  Over the course of three days, her life has been turned upside down. She takes a taxi to the emergency department and is seen after waiting six hours. She provides a quick medical history, noting she recently had neck surgery for parathyroid overactivity — an important clue to her diagnosis. Parathyroid glands produce parathyroid hormone that regulates the blood calcium level, which maintains bone strength and helps muscles and nerves function. Calcium levels in the blood have to be kept at a very specific level. Just like in your physiology lectures: HYPERcalcemia and HYPOcalcemia. And calcium levels that are either too high or too low can be deadly. But in moving quickly in the emergency department, testing for serum calcium is overlooked. A patient with recent neck surgery has symptoms consistent with low blood calcium levels —  why not check her calcium? It’s true that in a chaotic ER things can be overlooked. But a lot of time, calcium isn't ordered because it's not part of the regular "electrolyte” or “chemistry” panel — it has to be added specifically. With computer systems and the way test panels like these are built, they can shape the thinking of physicians, putting certain symptoms front of mind, while others might get neglected. Fortunately, a diagnosis was caught early enough for this patient that no long-term damage was done. But this case serves as a reminder that although rare diseases are rare, it doesn’t mean as a healthcare professional, you’ll never encounter them.

Overlooked Diagnostic Test for Blood Calcium Levels Leads to Rare Diagnosis

An infant is born with no complications in a hospital in Los Angeles. Within days, that same baby will suddenly have mysterious arterial calcifications, making him one of the most unique patients in the world.After being released from the hospital following the birth, within five days, the infant’s parents discovered the child breathing quickly, sweating and unable to eat. The child is brought back to the hospital and quickly transferred to UCLA for specialized care. The situation quickly turns critical as the infant's heart begins to fail. His symptoms are also consistent with hypertension. The patient is immediately given traditional treatment for high blood pressure and placed on a ventilator, which stabilizes his condition while more tests are done. X-rays come back showing an enlarged heart and signs of pulmonary edema. An echocardiogram then reveals that the child does not have a congenital heart abnormality — the most common cause of congestive heart failure. Period. But the ultrasound reveals another clue. The infant has significant arterial acidifications in the arteries, in his chest, and also in his abdomen. It’s so thick that it’s restricting blood flow to the child’s heart. Dr. Isidro Salusky, a Professor of Pediatrics who specializes in bone and mineral metabolism at the David Geffen School of Medicine at UCLA, explains, “It was very puzzling because first of all, when you see a newborn baby with congestive heart failure, the most common causes are defects in the heart … Why does this patient have arterial calcifications?”Thanks to available medical research, Dr. Salusky and others on the medical team discover a rare genetic disease similar to their patient’s — one that causes over half the infants born with it to die within six months. Even with this insight, it can take months to officially diagnose the child — time they don’t have. After much research and consulting with the team who wrote the available medical research, Dr. Salusky and team decide to move forward with treatment while they wait for the genetic testing results. The child stabilizes and the condition begins to improve. The story doesn’t end there, though. This child’s ongoing battle would cause specialists to question what they thought they knew about this disease and its treatment — and to keep asking why.

Mysterious Arterial Calcifications and One of the World’s Most Unique Patients

A toddler’s parents noticed him having muscle twitches before falling asleep and when waking up. They’re told nothing is wrong. This episode of DDx reminds us that sometimes when you hear hoofbeats, it really is a zebra.

Paediatric Seizures and The Race Against Time

A child was referred to a specialist on the suspicion he has pediatric epilepsy, a complicated and fickle condition. In this episode of DDx, we explore a case with several peculiar symptoms and diagnostic test results that baffled doctors. The answer may lie in genetic testing.

Diagnosing a Complex and Mysterious Form of Paediatric Epilepsy

A 5-month-old was brought to the emergency department with staring episodes. In this episode of DDx, we’re reminded that even when initial tests come back normal, keep thinking about the patient in front of you and probe parents for any new signs.

Mapping a Complicated Genetic History of Epilepsy

A toddler has episodes where his face changes, his arms shoot up, and he collapses. On this episode of the podcast, we address when rare disease diagnoses offer more questions than answers, and treatment options don’t lead to a cure.

The Many Questions and Few Answers of a Rare Disease Diagnosis

Rare diseases are … rare … which makes even textbook cases difficult to diagnose. In this episode, we’ll talk about the patterns and characterizations of a rare disease and how we can avoid diagnostic odysseys.

Classic Symptoms of Rare Diseases and Avoiding Diagnostic Odysseys

Rare diseases are … rare … which makes even textbook cases difficult to diagnose. In this season, we’ll talk about the patterns and characterizations of a rare paediatric disorders.

DDx Returns for Season Five

Genetic screening is vital for early diagnosis and management of genetic diseases. In this episode, dig into how it works, how it can help treatments reach patients sooner, and how it informs traditional treatments like physical therapy.Genetic screening works to determine which people might have a greater likelihood of developing a specific trait or disease, while genetic testing is concerned with testing an individual for a specific condition.One method of screening takes the form of a DNA-sized probe to track when its identical sequence is discovered inside the cell. And once that matching code is found and additional tests confirm the match, genetic testing may be conducted, a diagnosis reached, and then treatment prescribed. There are many different types of screenings, including prenatal genetic screening, which can range from testing amniotic fluid, drawing blood from the mother, and even taking a sample of embryonic cells formed by in-vitro fertilization.A typical newborn screening looks for a number of conditions, including sickle cell disease, cystic fibrosis, and severe combined immunodeficiencies.Newborn genetic screening has not only increased the potential for revolutionary treatments to be successful, but it has also dramatically improved other forms of care, like physical therapy. Spinal muscular atrophy, or SMA, is a disease that affects approximately one in 11,000 infants. When SMA is identified early through screening, the role of physical therapy can be radically different than if the infant hadn’t undergone screening or been formally diagnosed with SMA.In newborns who aren’t screened, or whose condition is not discovered so early, physical therapy plans may be designed to provide their atrophying muscles with physical support. But when the condition is identified early, physical therapy can do so much more. It changes from care that focuses on making the baby as physically comfortable as possible to one that can potentially help them reach physical milestones. Newborn genetic screening has dramatically changed the way specific diseases progress by providing personalized treatment. As treatments become more sophisticated and targeted, they can truly transform a child’s life, especially when administered early.For more education on gene therapy, visit www.genetherapynetwork.com.

The Importance of Genetic Screening

In this episode, we’ll dig into the different mechanisms by which gene therapy can potentially treat specific genetic diseases – such as amyotrophic lateral sclerosis, or ALS, and others.In 1993, a multinational group of scientists and doctors solved a medical mystery 150 years in the making.And they did it, in part, by examining the genealogy of a particular family in Vermont. In 1835, a farmer named Erastus Farr died of a mysterious illness characterized by a progressive weakening of his muscles followed by paralysis and respiratory failure.Thirty years later, his descendent Samuel Farr died of the same condition, as did four of Samuel’s eight children, the youngest at the age of 27. By 1880, the Canadian physician Sir William Osler had studied the Farr family phenomenon and concluded that they all suffered from a newly identified disease known as amyotrophic lateral sclerosis.But how could this frightening condition be passed from one generation to the next?Over the next hundred years, scientific interest in the disease grew, especially after the legendary baseball player Lou Gehrig died of the disease in 1941.But there was still a mystery: while 90% of ALS cases are considered sporadic – meaning there is no hereditary connection – the other 10% of cases seemed to run in families, like the Farrs.After the dawn of the genetic age, scientists began to suspect a gene variation was at the heart of the mystery. And then finally, in 1993, scientists including Robert Brown at the University of Massachusetts medical school, who studied the Farr family and others while also investigating the human genome, uncovered the answer.In some ALS patients, a variant of a single gene, called SOD1, can cause a buildup of toxic proteins in the brain, leading to the various symptoms that characterize the disease. In this case, the goal of gene therapy is to block or silence the abnormal production of a protein.And solving that mystery has paved the way for gene therapy, perhaps someday soon, to provide the first known treatment for familial ALS.For more education on gene therapy, visit www.genetherapynetwork.com.

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