Mystery Diagnosis

Monday 10:00 PM on Discovery Health Premiered Oct 11, 2005 In Season


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Episode Guide

    • The Man Covered in Boils
      The Man Covered in Boils
      Season 9 - Episode 6
      Lonnie White suddenly develops strange, painful bumps on his head, face, armpits, and then groin area that ooze. After facing almost two decades of misery, he is eventually diagnosed with a rare form of Hidradenitis suppurativa. Out of the blue, Theresa Rachlin has bizzare vision loss during and after her pregnancy, headaches that somehow disappear, ringing in her ears, and dizziness. It turns out that she has a rare disorder called Susac's Syndrome.moreless
    • The Woman Whose Legs Turned Black
      The Woman Whose Legs Turned Black
      Season 8 - Episode 6
      Young schoolteacher Diane Dike has been perfectly happy and healthy, until she suddenly notices two strange bumps on her foot. It appears to be a spider bite, but Diane soon gets redness, swelling, and pain in her feet and legs. Eventually, most of her legs turn dark red, and doctors are afraid they may have to amputate them. However, Diane's legs fade to its original color and has frequent flare-ups. About two and a half years later, Diane finds out that she has a rare disorder called cryoglobulinemia. Teresa Zdansky is happy to learn that she is pregnant with a girl, when suddenly, the right side of her face becomes numb. Soon, she also develops tingling that spreads from the left half of her body, and a headache. Her symptoms initially appear to be related to her pregnancy, but they don't subside after she gives birth. In fact, Teresa has had a rare, noncancerous tumor called a neuroma the whole time.moreless
    • Too Young to be Sick
      Too Young to be Sick
      Season 10 - Episode 7
      Ever since he was a year old, young Harry Crowther has been dealing with some unusual symptoms. He develops unusual spots on his torso, the skin on his abdomen tightens, his collarbones are unusually small, his nose is small and pointy, his eyes are bulging, and his teeth are overcrowded in his mouth. Harry's parents search for answers for six years and eventually find out that he has atypical progeria syndrome. Aspiring nurse Sadie Jones had just married her boyfriend and moved into a new house with him, when suddenly, she wakes up with excruciating chest pain. At first, Sadie believes it's simply heartburn, but the attacks only intensify; she starts vomiting water in her sleep; she regurgitates her food; she gets violent hiccups; and she vomits a foam-like substance. Many doctors dismiss her complaints, but one gastroenterologist finds out that Sadie has a disorder called achalasia.moreless
    • Eaten Alive
      Eaten Alive
      Season 2 - Episode 2
    • The Girl Who Couldn't Wake Up
      The Girl Who Couldn't Wake Up
      Season 6 - Episode 3
      Ever since she went through a car accident when she sixteen, Jennifer Julian has been going through a set of unusual symptoms. She faints several times, stops having body hair, has slurred speech, and feels so tired that she sleeps for many hours. Her parents think she may be depressed or mentally ill, but it turns out Jennifer has been suffering from hypopituitarism. Cara Lower has been a happy, healthy girl, when suddenly, she develops agonizing headaches at the age of eleven. Her condition appears to be minor at first, but soon, her pain spreads to her shoulders, back, and near her kidneys. Cara also becomes dizzy and loses her eyesight. Doctors believe she is simply faking, but it turns out that Cara actually has pseudotumor cerebri.moreless
    • Sleeping Beauty
      Sleeping Beauty
      Season 3 - Episode 1

      Jessica Saccone has been a healthy, happy teenager until she becomes unusually tired and sleeps for 10 straight days. She is taken to many doctors to find out the cause, including therapists, but they find nothing wrong with her. Eventually, though, a TV episode leads Jessica's parents to a doctor who finds out that she has Kleine-Levin syndrome (KLS). Edward Leigh has been a healthy, confident young man until he starts experiencing abdominal pain and diarrhea. He also becomes nauseous, but his doctor thinks he simply has irritable bowel syndrome. To make matters worse, Edward soon experiences hemorrhaging from his rectum and even passes out. After being dismissed so much, he finally learns that he has stage 3 of colon cancer.

    • The Baby Who Smelled Like Pancakes

      For many decades, Carole Battle has been a healthy, active mother and watercolor artist, when suddenly, she starts having balance problems. Initially, it appears to be an infection of her inner ear, but soon, Carole also develops dizziness, and eventually, speech impediments. It turns out that Carole has had cancer that is being kept in check by a rare autoimmune disease called paraneoplastic cerebellar degeneration (PCD). Since young Rachel Webb has been born, her parents have been worried about her. She has urine that smells like maple syrup, cries constantly for no apparent reason, has feeding problems, and becomes unresponsive for a while. Eventually, Rachel goes into a coma, but fortunately, the doctor finds out that she has maple syrup urine disease.

    • The Woman Who Craved Pickles
      The Woman Who Craved Pickles
      Season 4 - Episode 3
      Since Christian Byrne has been born, he has been dealing with vomiting and constipation. At first, the problem seems very minor, but when he is two-and-a-half years old, his parents realize it's more serious than it appears to be and eventually find out that his stomach and part of his large intestine are lodged in his chest from a birth defect called a diaphragmatic hernia. Pat Stopka develops a dark complexion, cramps in her legs, mood swings, salt cravings, and fatigue. At first, her symptoms appear to be unrelated to each other, but actually, all of them are due to a hormonal disorder called Addison's disease.moreless
    • A Family's Desperate Search
      A Family's Desperate Search
      Season 10 - Episode 5
      Since he was born, Ricky Getch's parents have been troubled by his problems. Ricky is unusually small for his age and doesn't grow normally and has a low appetite from a rare, treatable form of dwarfism called Russell Silver syndrome (RSS). Noel Valero, an active father of two, suddenly blinks his eyes more frequently than usual, has unusual neck spasms, paralysis of his right tricep, and back pain that occurs in his entire back from a rare movement disorder called dystonia.moreless
    • Dangerous Growths
      Dangerous Growths
      Season 10 - Episode 3
      Since her late teens, Tanya Angus has had a headache; a crackling sound in her head; an usual growth spurt; pain in her hands, feet, and back; and even an enlargement of her face. Doctors think she's just one of those young women who grow taller after their teens, but it turns out that actually, Tanya has a tumor on her pituitary gland from a rare disorder called acromegaly. Since he was a toddler, Kody Burns has been coughing and having difficulties breathing. He appears to have asthma that went away when he was twelve, but when he begins to cough up blood and strange white tissue at the age of sixteen, it turns out that he actually has a rare disease called recurrent respiratory papillomatosis (RRP).moreless
    • The Baby Who Wouldn't Stop Crying
      The Baby Who Wouldn't Stop Crying
      Season 6 - Episode 2

      Ever since young Averi Williams has been born, her parents have become worried about her. Averi cries constantly for no apparent reason, has unusually bluish sclera, has an enlarged forehead with protruding veins, fails to gain weight, and has breathing problems. These symptoms turn out to be caused by malignant infantile osteopetrosis.

      Since she was fifteen years old, Lynn Sanders has been experiencing chronic pain in her hands and wrists. The pain spreads to her joints, and it turns out that Lynn has Ehlers-Danlos syndrome.

    • Blood & Fire
      Blood & Fire
      Season 1 - Episode 6
      This episode covers AIDS and Chiari 1 Malformation.
    • The Boy with the Strange Stare
      The Boy with the Strange Stare
      Season 8 - Episode 4
      Ever since Landyn Withrow was born, his parents have known there is something wrong with him. He always looks up to the ceiling; has fits of vomiting, crying, stiffening up, and clenching his hands and feet; and has developmental delays. After going through several doctors, one doctor finally realizes that Landyn has a rare neuromuscular disorder called Paroxysmal Tonic Upgaze (PTU). Cindy Webber has always been quite healthy, until a strange bruise appears on her right leg. This bruise comes and goes, but Cindy always has pain in that area. Just when she learns to deal with this symptom, though, she suddenly develops pain in her legs that soon spreads to her whole body and red dots on her right leg. It turns out that Cindy has a rare autoimmune disease called Microscopic Polyangiitis.moreless
    • The Boy Who Kept Swelling
      The Boy Who Kept Swelling
      Season 6 - Episode 6
      Since she was in her early twenties, Malinda Sargestano, an active mother of two, has been suffering from a mysterious illness. She gets headaches, heart palpitations, constant sweating, sudden outbursts of anger, weight loss, and a bizarre growth in her abdomen. Eventually, Malinda almost commits suicide and sees a doctor who finds out that she has a rare tumor called a pheochromocytoma. When Craig Leppert is eighteen months old, he begins to suffer from a set of baffling symptoms. He has unexplainable pain and skin irritation in sunlight, develops swollen hands and arms, and his hands become purplish. A doctor later finds out that Craig has a rare disorder called erthropoietic protoporphyria (EPP), which makes him extremely sensitive to sunlight.moreless
    • Simple Symptoms Turn Threatening
      Simple Symptoms Turn Threatening
      Season 10 - Episode 10
      Young Payton Rule has trouble walking and using her hands from her weak muscles. Initially, she simply appears to be a late bloomer with hypotonia, but Payton doesn't improve. It turns out that she has a genetic nerve condition called Charcot-Marie-Tooth disease (CMT). Travis Walker has been a happy, active man, until he discovers a bump near his left index finger. It seems to be minor, but it grows to a big, red lump. Steroids don't help, and the lesion spreads to his pinky, wrist, his whole hand, and even up his arm. Also, Travis becomes lethargic and dehydrated with a fever and hypotension. Eventually, though, he finds out that he has been dealing with a rare infection from Mycobacterium marinum.moreless
    • Isaac's Nightmare
      Isaac's Nightmare
      Season 1 - Episode 4
      Doctors investigate why a young boy's body is not producing antibodies to fight infections, and why a woman lost the ability to walk.
    • Survivors
      Season 1 - Episode 1
      This episode features a firefighter who suffers from respiratory problems, and a nurse who experiences mysterious internal bleeding.
    • Fight to the Last Breath
      Fight to the Last Breath
      Season 10 - Episode 1
      An older woman named Liana suffers from excruciating pain in her sinuses and blindness in her left eye. A mass in her sinuses appear to be a malignant tumor, but when Liana blows some strange-looking tissue out of her nose, it turns out she actually has a fungal infection called aspergillosis. A young single mother named Robin deals with breathing difficulties, coughing, fatigue, and body aches from a rare inflammatory disease called Churg Strauss Syndrome, which causes her to lose her job and home.moreless
    • Implant for Tourettes
      Implant for Tourettes
      Season 2 - Episode 8
    • Like Mother, Like Son
      Like Mother, Like Son
      Season 1 - Episode 1
      Doctors investigate why a child with Celiac disease is intolerant of gluten. Also, to stop a woman's seizures, doctors remove her left frontal lobe.
    • The Sickest Patient in the Hospital

      Dan Hammond, a father of six-year-old triplets, has been healthy when suddenly, he discovers a strange lump on his tailbone. He thinks surgery should've taken care of the problem, but later on, Dan deals with painful, swollen legs; insomnia; a sudden bout of vomiting; a bright pink spot on his neck; a skyrocketing fever; and vision problems, especially in his right eye. It turns out that Dan has an autoimmune disorder called polyarteritis nodosa. Since she was twelve years old, Lauren Warren has been suffering from a set of baffling symptoms. She has pain from her neck, down to her thighs; tachycardia; and reddish-colored urine that looks thick at the bottom. Surprisingly, Lauren's pain seems to disappear when she runs and consumes sports drinks and other sugary stuff. Then, she gets a tetanus shot after receiving a huge cut on her foot, and her attacks begin again with muscle twitches. After suffering for thirty years, Lauren learns that her body is producing too much heme fyrom a genetic condition called porphyria.

    • When the Body Shuts Down
      When the Body Shuts Down
      Season 10 - Episode 4
      Ever since she was born, young Kylie Monica's parents knew there is something wrong with her. Kylie has low birth weight, a cleft palate, a deformed thumb, and breathing difficulties from diamond blackfan anemia. Seventeen-year-old star athlete Michael Iniguez suddenly develops a sore, swollen throat, spiking fevers, chills, night sweats, and swollen feet. Soon, his kidneys begin to fail, and he goes into septic shock. All of Michael's symptoms turn out to be caused by a rare, life-threatening bacterial disease called Lemierre's Disease.moreless
    • The Boy With The 150 Pound Leg
      The Boy With The 150 Pound Leg
      Season 9 - Episode 10
      Young Adrian Martinez has always had a pinkish birthmark on his leg and has learned to deal with it. But when he is twelve years old, he develops hotness, unusual swelling, and pain in his right leg. His leg grows so much that after he starts high school, it weighs about one hundred and fifty pounds and it limits his ability to walk. Doctors think he has elephantiasis, but when Adrian also develops foul-smelling pimples on his right leg, it turns out that actually, he has a rare form of a blood disorder called Klippel Trenaunay Syndrome (KTS). Guidance counselor Kathy McFadden starts having swollen ankles, pain in her legs, a rash and blisters on her leg, extreme weight loss, weakness, fatigue, and eventually, diabetes. It turns out that she has been suffering from a rare tumor on her pancreas called a glucagonoma.moreless
    • The Boy Who Only Hopped
      The Boy Who Only Hopped
      Season 9 - Episode 2
      When twelve-year-old Sammy and his family move to a new home, he develops bizarre habits, such as walking with his eyes closed and hands out front, refusing to sleep in his bed, wanting the lights on all day, hopping, and even running off. Sammy has been visiting a psychiatrist and psychologist for his issues, when actually, he is suffering from a rare autoimmune disorder called PANDAS, in which strep antibodies mistake his neurons for the streptococcus bacteria. Energetic Lynda Fox suddenly starts having inflammation in her eyelids that spreads to her entire face, hives, and eventually, anaphylactic shock. Her doctor finds out that Lynda is allergic to her own progesterone hormone from a rare disease called Autoimmune Progesterone Dermatitis.moreless
    • The Baby Who Bruised Easily
      The Baby Who Bruised Easily
      Season 9 - Episode 4
      Since she was born, young Julia Smith has had bruises all over her body. Doctors think the bruises aren't serious, but eventually, Julia bleeds profusely, just because of a cut on her face from her fingernail. She is finally diagnosed with a rare blood genetic disorder called Glanzmann's Thrombosthenia. David Skinner, a husband and father of two, suddenly has difficulties walking and standing, suffers from seizures, and later, becomes paralyzed. His doctors believe he's just stressed, but actually, David has been dealing with a genetic disorder called Hyperkalemic Periodic Paralysis, which affects his muscles.moreless
    • The 13 Year Stomach Ache
      The 13 Year Stomach Ache
      Season 3 - Episode 4
      16 year old Jennifer Fagenson takes aspirin to help alleviate altitude sickness, but ends up being rushed to the hospital.. In 1998, Joyce Gonzales feels sharp, needlelike pain shooting up her left arm. Within weeks the pain mysteriously spreads.
    • The Girl With Half a Face
      The Girl With Half a Face
      Season 8 - Episode 2
      When thirteen-year-old Nichole Beavers begins to lose her hair in clumps, she knew something is very wrong with her. She later develops pain in the right side of her jaw, loses an alarming amount of weight, and the right side of her face starts sinking in. Nichole realizes that she has a rare disease called Parry-Romberg Syndrome. After having a barbeque, Kevin Hughes begins to have painful abdominal cramps and diarrhea that soon disappears. Just when he feels like his old self again, Kevin then becomes unusually dizzy, loses his ability to speak clearly, goes blind, loses his ability to move his eyes, and eventually becomes completely unconscious. It turns out that he has been suffering from a rare autoimmune disease called Bickerstaff Brainstem Encephalitis.moreless
    • The Woman Whose Flesh Was Eaten Alive
      June Pecce has been a happy, active woman when suddenly, she gets a mammogram and learns that she has two lumps in her left breast. They do not appear to be cancerous, but soon, her breast becomes extremely inflamed and painful. At first, June seems to have an infection on her breast, but the inflammation spreads to her right arm. It turns out that June has been suffering from a rare immune condition called pyoderma gangrenosum. Young Brianna Paige Headings cannot keep much food down, so she vomits every time her parents feed her and cries constantly. A doctor believes she simply has colic, but soon, her body becomes commpletely stiff and she starts having seizures. Brianna's condition worsens, but fortunately, a doctor finds out that she has been suffering from a rare condition called pyridoxine-dependent seizures.moreless
    • The Girl Whose Skin Came Off
      The Girl Whose Skin Came Off
      Season 8 - Episode 10
      Eighteen-year-old college freshman Kati Foust develops rashes and numerous blisters all over her limbs. She attempts to hide her embarrassing condition from everyone else, but unfortunately, when a dormmate discovers her blisters, people begin to fear that she is contagious. However, it turns out that Kati is actually suffering from a rare, autoimmune skin disorder called bullous pemphigoid. Nurse Angela Smith has learned to deal with having type 1 diabetes. However, she begins to have painful back spasms, difficulties walking, and eventually, paralysis from a rare, autoimmune, neurological disorder called stiff person syndrome.moreless
    • Survivors 2006
      Survivors 2006
      Season 5 - Episode 11
      We follow three people who defied the odds and their mysterious systems to become survivors. A baby boy is stricken with nonstop vomiting. A woman drinks three gallons of water night and day and gets up frequently at night. A man who doesn't sweat.
    • The Girl with Holes in Her Jaw
      The Girl with Holes in Her Jaw
      Season 7 - Episode 5

      Ever since she was born, young Claire Mantey has had a strange birthmark and swelling on the left side of her face. It didn't seem so serious at first, but the swelling and discoloration persist. Claire gets many ear infections, pain in the left side of her face, and eventually, fibrous displasia that spreads from her left jawbone to some of her other bones. It turns out that Claire has been suffering from a rare disease called lymphangiomatosis. Sue Ingraham has been a healty, active mother until she experiences some unusual pain in her leg. She tries to just deal with it, but her knee freezes up, and her pain worsens, spreading to her groin area. A doctor later finds out that Sue has had a rare, benign tumor on her sciatic nerve called a neurofibroma.

    • The Woman Who Went Crazy
      The Woman Who Went Crazy
      Season 7 - Episode 9
      Kristin Gunther begins to suffer from great anxiety, confusion, and seizure-like movements. At first, doctors believe she simply has a viral form of meningitis, but after Kristin returns home, she becomes extremely anxious and delusional. Also, she loses her ability to breathe on her own, and her heart rate becomes dangerously low. All of this turns out be caused by an autoimmune disease called Anti-NMDA receptor encephalitis due to a teratoma in her ovary. Food deliveryman Mark Chernek suddenly develops strange symptoms affecting his feet. He has pressure that soon disappears, pain, reddish splotches, fluctuating temperatures, and bluish discoloration that spreads from his toes to his ankles, which cause him to eventually give up on his job. Mark realizes that he has an autoimmune disease that affects blood vessels of the hands and feet called Buerger's disease, which is caused by his heavy smoking habit.moreless
    • The Woman Who Couldn't Stop Burping
    • The Woman Who Couldn't Stop Rocking
      After a family vacation, Rosanne Jensen has been suffering from bouts of dizziness, which turn out to be from disembarkment syndrome. Ever since she got her first period at the age of 11, Janet Long has been suffering from excruciating abdominal cramps, diarrhea, and vomiting during her period. Then, after giving birth to three daughters, Janet also develops painful swelling in her hands. After getting no answers from many doctors, Janet finds out that she has hereditary angioedema (HAE).moreless
    • Trapped Inside Their Bodies
      Trapped Inside Their Bodies
      Season 10 - Episode 2
      Ever since he was seven years old, Matt Horick has been dealing with strange symptoms relating to his skeletal system. He has had abnormal-looking toes, pain in his hips that appeared to have been caused by hip displasia, pain in his legs, and a strange lump on his back due to a rare disease called fibrodyplasia ossificans progressiva (FOP). A two-year-old girl named Haven Fowler gains weight at an alarming rate, has hallucinations at night, eats while sleepwalking, goes into a seizure, and temporarily stops breathing from ROHHAD syndrome, a rare diseases that affects the brain.moreless
    • Sleeping Beauty
      Sleeping Beauty
      Season 3 - Episode 1
      Jessica is a healthy teenager living with her parents in suburban New York. At the start of her freshman year in high school, she has bizarre episodes where she sleeps for 10 days straight. Doctor are baffled when her EEGs, EKGs, and MRIs appear normal.
    • The Girl Who Stopped Growing
      The Girl Who Stopped Growing
      Season 8 - Episode 3
      When Samantha Lazazzaro was born, she had cataracts, or clouding of her eyes. She had surgery to correct it, but now, she has developmental delays, and tremors in her body. Her younger brother, Jake, has been born with the same symptoms. Their parents are shocked to find out they both have a rare disorder called Cockayne syndrome, which prevents DNA from regenerating and speeds up the aging process. Eileen Collins has always been a big talker, but suddenly, she wakes up with a raspy voice. At first, her voice returns to normal during the day, but soon, her voice remains raspy all day. She speaks with the raspy voice, but yells normally, and has difficulty speaking clearly. Doctors believe she has a psychological problem, when actually, Eileen has a rare neurological disorder called spasmodic dysphonia, which causes her vocal cords to spasm.moreless
    • The Boy Who Couldn't Breathe
      The Boy Who Couldn't Breathe
      Season 3 - Episode 6

      When young Collin Campbell develops breathing problems, it appears to be minor and treatable, but his symptoms keep coming, and treatments stop working. Fortunately though, his chest x-rays and CT scan help confirm that he has a birth defect called congenital cystic adenomatoid malformation (CCAM). Laura McCann, an entrepreneur and single mother of two, suddenly develops diarrhea. At first, it appears to be from eating the wrong foods, but the diarrhea takes over her life, and she has some episodes of incontinence. Eventually though, Laura learns that she has Habba syndrome. Quettia Davis has been a busy, healthy college student, until she accidentally drops her crocheting and steps on her needle. After this incident, she becomes fatigued, numb, and weak, hindering her walking ability. A doctor diagnoses her with lupus and prescribes her treatments, but her symptoms soon return, and sheloses her vision in one eye. Her condition has been so bad that Quettia is forced to drop out of college. Thankfully though, Quettia finds out she has an autoimmune condition called multiple sclerosis (MS).

    • A Search For Answers
      A Search For Answers
      Season 10 - Episode 8
      As soon as Ellayna Gallis was born, her parents and grandparents have been worried about her. She has several birth defects including an enlarged leg, blotchy skin, fused toes, and heart problems. Ellayna appears to have Klippel-Trenaunay syndrome (KTS) at first, but soon, one doctor figures out that she actually has Proteus syndrome. Adam Brewer has always been healthy, until he suddently feels nauseous and has diarrhea. It appears to be a case of food poisoning, but after having night sweats, Adam suffers from shortness of breath from fluid accummulation in his heart and lungs. He eventually finds out that he has a parasitic infection called paragonimiasis from eating undercooked crabs.moreless
    • Stolen Senses
      Stolen Senses
      Season 10 - Episode 9
      Tammy Bangs has been a healthy 25-year-old woman, until she starts feeling extremely fatigued and achy. At first, it appears to be just mononucleosis, but things get really serious when Tammy cannot urinate at all and gets tingling sensations in her lower body that leads to paralysis. It turns out that Tammy's mono has actually led to her more severe symptoms, which are due to a rare disease called acute disseminated encephalomyelitis (ADEM). A 43-year-old mother of two named Nadine Miller suddenly has trouble seeing and reading. Initially, she appears to have inflammation from sarcoidosis, but unfortunately, her vision keeps deteriorating shortly after being treated with steroids. Eventually, Nadine also begins to have frightening hallucinations, and she is diagnosed with chronic relapsing inflammatory optic neuritis.moreless
    • A Deadly Cough
      A Deadly Cough
      Season 5 - Episode 4

      A 20-year-old college student named Mary Ann Piazza has been happy with her job as a babysitter and college life, until she develops an unusual cough. It seems to be from minor ailments, but the cough proves to be incredibly persistent, and she becomes fatigued. Worse, Mary Annalso deals withshortness of breath, wheezing, constant weight loss, night sweats, and itchy skin. After being dismissed for three years, one doctor finally figures out that Mary Ann has been suffering from Hodgkin's lymphoma the whole time. Since young Danielle Barckett's parents have brought her home from the hospital, they have noticed she has problems. Danielle vomits every time she is fed, yet she manages to gain weight over time. She also has diarrhea and a distended belly from ascites accumulating in her abdomen. It turns out that Danielle has a rare genetic disorder called tyrosinemia.

    • The Man Who Tripled in Size
      The Man Who Tripled in Size
      Season 8 - Episode 7
      Walt Breidigan starts out with flu-like symptoms, but soon becomes dizzy from hypotension. He develops pain in his legs and even gains a hundred pounds in just one day. At first, Walt thinks he is all better after taking diuretics to drain excess fluid in his body, but two years later, his symptoms return. Finally, he finds out that he has a rare capillary disorder called systemic capillary leak syndrome. Young Ashley has been a healthy little girl until shortly after her fourth birthday, when she becomes constantly thirsty. Along with the incessant thirst, she also has to deal with constant trips to the bathroom, double vision, and headaches. It turns out that Ashley has a tumor in her brain called a pineal germinoma.moreless
    • The Boy Who Couldn't Stop Eating
      The Boy Who Couldn't Stop Eating
      Season 8 - Episode 9
      Young Julie McCawley has been a healthy baby, until she is ten months old, when she becomes completely stiff and unresponsive. Her eyes become swollen and she gets a fever. At first, Julie appears to be having pediatric epilepsy with an ear infection. However, she soon develops blisters that spread all over body and enlarge in size. Doctors believe she is simply suffering from chickenpox, but it turns out that Julie has been suffering from a severe reaction to her anti-seizure medication from an autoimmune condition called Stevens-Johnson syndrome. Since young Conor Heybach was born, he has had trouble with getting enough nutrients. However, as he grows older, he has difficulty speaking clearly and loves food so much that he compulsively overeats in secret. Conor's rapid weight gain has been a mystery to his parents until one doctor eventually finds out that he has a rare genetic condition called Prader-Willi syndrome.moreless
    • Frenetic Genetics
      Frenetic Genetics
      Season 3 - Episode 7

      Ever since she was born, young Ashley Wolf has been dealing with diarrhea. She develops a voracious appetite, learning problems, and even cataracts. It turns out that Ashley has a genetic, metabolic condition called Cerebrotendinous xanthomatosis (CTX). Young ER nurse Nissa Penland has been healthy and busy until she experiences night sweats, fever, and abdominal pain. Initially, she believes she may have a virus, but her lymph nodes soon become swollen, she becomes bloated and too nauseated to eat, her spleen becomes enlarged, and her hands swell up. Nissa fears she may have lymphoma, but actually she has been suffering from adult-onset Still's disease.

    • The Man With Hundreds of Lumps
      The Man With Hundreds of Lumps
      Season 9 - Episode 3
      Jessica Blaszczak has been in perfect health, until she starts feeling unusually fatigued. She starts getting chills, spiking fevers, headaches, night sweats, nausea, muscle aches, and general weakness. Doctors believe Jessica simply has a minor infection, but one doctor discovers that she has a life-threatening infection of the heart called endocarditis from sepsis. A young man named Jake Tate has recently started a military training program, when suddenly, he discovers a small lump on his abdomen. At first, Jake thinks it's simply from stress, but over time, he develops painful fatty lumps called lipomas all over his body that become less severe during warmer climates. He eventually finds out that he has Dercum's disease.moreless
    • Girl Who Turned Blue
      Girl Who Turned Blue
      Season 5 - Episode 6
      Lavelle Fernandez and Roddy Palma are elated when their new baby girl Lariah is born. But just a half hour later, the parents are horrified at the sight of their newborn daughter turning blue.
    • Donor Disaster
      Donor Disaster
      Season 4 - Episode 4
      Rachel joyfully learns she is pregnant; then she begins to experience stomach pains and excruciating headaches. Jennifer experiences inflammation in her eyes, then develops pain and stiffness in her elbow, knees and thumbs.
    • The Boy Who Never Cried
      The Boy Who Never Cried
      Season 8 - Episode 1
      Ever since young Carson Koult was born, his parents have been worrying about him. He gets spiking fevers and does not respond to pain. Thus, he bites his tongue and tries walking without crying at all. Carson's parents worry that he'd unknowingly get himself hurt, but fortunately, his doctor finds out that Carson has a rare disorder called congenital insensitivity to pain with anhidrosis (CIPA), in which patients cannot respond to pain or temperature changes. Thirty-two-year-old Martha Emmons has been healthy her whole life until she suddenly goes into a seizure. At first, she isn't worried, but soon, she develops near-fainting episodes that disappear during her pregnancy and return afterwards. Eventually, Martha loses her ability to think straight and actually faints. A doctor finds out that she has swallowing syncope.moreless
    • The Woman With Unusual DNA
      The Woman With Unusual DNA
      Season 9 - Episode 9
      Jeanne Nollman fails to hit puberty, so it seems that she is just a late bloomer. Her doctor tells her that her ovaries are underdeveloped and can become cancerous when actually, he has been hiding the fact that her gonads haven't developed at all into ovaries. Jeanne finds out she has a rare genetic disorder called Swyer syndrome, which gives her XY chromosomes, but renders her body unable to produce hormones essential for puberty. Mary Brown has been a healthy, active mother of two, when suddenly, she develops a collapsed lung. She suffers shortness of breath, spotted vision, pain in her shoulders, and sensations of bubbles going down her back from a rare lung disease called lymphangioleiomyomatosis (LAM).moreless
    • Lethal Diet
      Lethal Diet
      Season 2 - Episode 3
      Parents Ed and Jane try to figure out why their son, Alex, is so unsteady on his feet, and why he has recurring sinus infections. A 31-year-old woman begins gaining weight and complaining of oily skin, hair loss, body cramps, and irritable bowel syndrome.
    • The Purple Puzzle
      The Purple Puzzle
      Season 4 - Episode 5
      After Katelyn Wells has been born, she develops a set of strange symptoms. She has smelly stool, is lethargic, has stunted growth, and even develops hydrocephalus. Eventually, a doctor finds out that Katelyn has a rare congenital disorder called Shwachman-Diamond syndrome (SDS), which prevents her body from absorbing nutrients properly. Bruce Kemlitz has been a healthy, active biology teacher, when suddenly, he has pain in his ears and his face is purple. Soon, this pain and discoloration spreads to his feet, and he turns purple in cool temperatures. Also, his spleen becomes enlarged. When Bruce informs a doctor about the time he adopted a feral dog in Ethiopia, he finds out that he has cold agglutinin disease and lymphoma caused by a calcified cyst from a tapeworm infection.moreless
    • Time is Running Out
      Time is Running Out
      Season 10 - Episode 6
      A 14-year-old girl named Lindsay Estacio has been recovering from a depressed state over her parents' divorce, when suddenly, she develops a strange rash, fever, swollen glands, sore throat, headache, and puffy, sore eyes. Lindsay's rash becomes so bad that it develops into blisters that spread all over her body and mucus membranes and hinder her breathing. It turns out that Lindsay is severely allergic to certain medication, including the antidepressant she took, called Stevens-Johnson syndrome. Young father Ryan Gleason has been mostly healthy, except for a sinus infection. He gets a headache, becomes fatigued, develops numbness in his hands and feet, loses his balance, gets double vision, and develops speech impediments. A doctor eventually finds out that Ryan has been suffering from an autoimmune disorder called Miller-Fisher syndromemoreless
    • The Woman Who Saw Pink
      The Woman Who Saw Pink
      Season 7 - Episode 2
    • The Breasts That Changed Color
      The Breasts That Changed Color
      Season 7 - Episode 7
      After twenty-seven-year-old Amanda Nixon has breast reduction surgery, she develops a strange set of symptoms. She has spasms of pain in her right arm; a painful, hardened mass on her right breast; dimples on her right breast; and a purple discoloration of her right breast from one of the most aggressive forms of breast cancer, inflammatory breast cancer (IBC). Since young Andrea has been born, she has been worrying her parents with her troubling symptoms. She cries a lot more often than normal with alternating episodes of frequent smiling, vomiting after every feeding, developmental delays, and jerky movements. It turns out that Andrea has been suffering from a rare neurological disorder called Angelman syndrome.moreless
    • The Girl Who Felt to Pieces
      The Girl Who Felt to Pieces
      Season 6 - Episode 13
    • The Man Who Turned Orange
      The Man Who Turned Orange
      Season 3 - Episode 2

      Nicole Guerin is a young woman who has always had seasonal allergies, but suddenly, her episodes become extremely frequent. She has many sinus problems, nosebleeds, fevers, chills, night sweats, problems with her eye, a swollen right knee, facialpain,and chest pains with shortness of breath and wheezing. Doctors can't tell what's wrong with her, until one does an invasive lung biopsy on her. Nicole then learns that she has a rare autoimmune condition called Wegener's granulomatosis. Marathon runner Aran Gordon has been a healthy man approaching middle age, until he somehow becomes unusually tired. With this onset, his bones begin to crack, he gains an orange discoloration of his skin, his joints become extremely painful.,his heartpalpitates, and his liver becomes enlarged. Aran's symptoms are so bad thatthey hinder hisrunning, but fortunately, he eventually finds out that he has a genetic condition called hemochromatosis.

    • Deadly Sore Throat
      Deadly Sore Throat
      Season 3 - Episode 3

      Nineteen-year-old Meredith Estes is excited to finally start college when suddenly, she gets a sore throat. At first, she doesn't worry too much since her friends also felt a little under the weather, but her sore throat persists. To make matters worse, Meredith also sleeps more than usual. She developsnight sweats, fevers, and swollen tonsils and vomits at some point. Meredith loses her memory, her head becomes swollen, and her vision and speech deteriorate. Doctors are unsure about Meredith's ailment, until she goes through a craniotomy. They finally figure out that Meredith has been suffering from Lemierre's Syndrome, a disease that has been forgotten, due to the heavy use of antibiotics. Doug Posluszny has been healthy, until he suddenly becomes dizzy, with flushing skin, chills, and a headache. At first, it seems that he's simply dehydrated, but Doug soon develops numbness and tingling; excruciating, persistent headaches; weight loss; memory loss; and chest pains with breathing difficulties. Doctors believeit's all in his head, butafter an old acquaintance refers him to a certain doctor, Doug finds out that he has had Lyme disease the whole time.

    • The Man With Rocks in His Chest
      The Man With Rocks in His Chest
      Season 3 - Episode 4
    • The Bearded Lady
      The Bearded Lady
      Season 3 - Episode 5
    • The 13 Year Stomach Ache
      The 13 Year Stomach Ache
      Season 3 - Episode 4

      Sixteen-year-old Jennifer Fagenson comes down with altitude sickness and takes aspirin to help relieveit, but unfortunately, this lands her in the hospital. Thinking she may be allergic to the aspirin, she stops taking it, but she deals with excruciating stomaches, internal bleeding, indigestion, backaches, and diarrhea for the next13 years. It turns out that Jennifer actually has a gastrointestinal stromal tumor (GIST). Joyce Gonzales, a healthy mother of two, suddenly has pain in her hand and forearm that spreads to her other arm and weakness in her hands. She is initially diagnosed with carpal tunnel syndrome, then chronic pain syndrome, but the pain is too much for her, and she also finds out she has brain lesions. After being dismissed so much, Joyce finds out that she has a hereditary form of cavernous angioma.

    • The Baby Who Changed Colors
      The Baby Who Changed Colors
      Season 3 - Episode 9
    • Season 3 Finale: Not a Normal Newborn
    • The Girl Who Couldn't Eat
      The Girl Who Couldn't Eat
      Season 4 - Episode 1
    • Bizarre Visions
      Season 4 - Episode 2
      Jane Strauss has been a healthy mother of two working at a bakery, until she begins to suffer from diarrhea. At first, the chronic diarrhea appears to be irritable bowel syndrome, but soon, she also suffers from numbness and tingling in her hands and feet, vision problems, and loss of balance. It turns out that Jane is suffering from a vitamin B12 deficiency called pernicious anemia. LaShan Davis has been having an easy pregnancy until her last trimester, when she begins to have colds and night sweats. After she gives to her daughter, LaShan also becomes fatigued and weak. She experiences spiking fevers, breathing problems, and swelling of her hands and feet. All these symptoms are due to an autoimmune disease called polymyositis.moreless
    • Fatal Secret
      Fatal Secret
      Season 3 - Episode 1
    • Season 2 Finale: Unquenchable Thirst
    • The Stabbing Sensation
      The Stabbing Sensation
      Season 2 - Episode 6
    • Why Is Emily Screaming?
      Why Is Emily Screaming?
      Season 1 - Episode 5
      A child who can't stop crying; A woman seeks help for her rapid weight gain and other bodily changes.
    • Pilot: Grasping for Straws
      Pilot: Grasping for Straws
      Season 1 - Episode 1
      Doctors are baffled by a woman's mysterious respiratory problem.
    • Finale: Desperate for a Cure
      Finale: Desperate for a Cure
      Season 1 - Episode 7
      Doctors try to determine why a 5-year-old has a constant fever and stomachache.
    • Blood Brothers
      Blood Brothers
      Season 2 - Episode 1
      Doctors try to determine why a woman experiences joint pain, oral ulcers, skin lesions and genital sores after seeing things floating in her field of vision.
    • A Puff of Smoke
      A Puff of Smoke
      Season 2 - Episode 3
      Doctors try to diagnosis a newborn who has trouble nursing and stopped gaining weight after leaving the hospital.
    • Falling Through the Cracks
      Falling Through the Cracks
      Season 2 - Episode 1
      Doctors try to help a couple's second daughter, who was born with a serious heart condition, and has stopped growing and gaining weight.
    • Not A Normal Newborn
      Not A Normal Newborn
      Season 1 - Episode 3
    • The Man Who Never Sweats
      The Man Who Never Sweats
      Season 2 - Episode 3
    • Fatal Secret
      Fatal Secret
      Season 2 - Episode 4
    • A Case of Paralysis
      A Case of Paralysis
      Season 4 - Episode 3
    • The Woman Who Kept Falling Down
      The Woman Who Kept Falling Down
      Season 4 - Episode 4
    • The Woman Who Couldn't Cry
      The Woman Who Couldn't Cry
      Season 5 - Episode 9
      Ever since she was five years old, Linda Charles knew there was something wrong with her. Her troubles start with frequent cavities and a dry mouth and progress with painful muscles and joints; dry, swollen eyes; fatigue; severe heartburn; and stomachaches. After being dismissed by many doctors, Linda eventually finds out that she has an autoimmune disorder called Sjorgen syndrome, which attacks her fluid-producing glands. Jennifer Gershman has been a healthy, active mother, when suddenly, she starts gaining weight every month. She tries exercising more, but along with her fluctuating weight, she gets edema, or swelling, in her legs, ankles, and feet. It turns out that Jennifer has amyloidosis, which causes her white blood celss to turn into abnormal proteins.moreless
    • The Woman with a Knife in Her Head
      The Woman with a Knife in Her Head
      Season 5 - Episode 10
      After several miscarriages, Amanda Coveler finally gives birth to a second daughter. However, she deals with fatigues; headaches; dry, dark patches on her skin; dry, brittle hair; and pain in her knees. Surprisingly, Amanda feels fine during her pregnancies, but unwell when she's not pregnant. Eventually, she learns that she has Hashimoto's disease, an autoimmune disease that attacks her thyroid gland. Anne Hummel, a happy mother of four, suddenly develops excruciating headaches and sinus infections, a runny nose, a metallic taste in her mouth, blurred vision, and the inability to move on her own. Her doctors believed she simply has sinusitis, but eventually, one doctor finds out that Anne actually has a cerebrospinal fluid (CSF) leak.moreless
    • The Woman with the Giant Lump
      The Woman with the Giant Lump
      Season 6 - Episode 1
      Female bodybuilder Daisy Hill develops a small lump that gradually swells on her neck, shooting pain on one side of her jaw, paralysis of one side of her face, and unusual sweating from her head from a tumor caused by a rare form of an uncommon disorder called paraganglioma. Ever since he was first introduced to solid food, young Tyler Berchielli has been dealing with bowel movemetns that come only once a month, abodominal pain, a swollen belly, and vomiting from a mild form of Hirschsprung's Disease.moreless
    • The Boy Who Stopped Walking
      The Boy Who Stopped Walking
      Season 6 - Episode 7

      Young Zach has been healthy and quick-learning, until he becomes a year old, when his right eye appears turned in. Initially, it appears that he simply has a lazy eye and needs glasses, but these corrective lenses don't help. His walking and talking abilities begin to deteriorate and he develops issues with his immune system, yet doctors fail to find out the cause, until one learns that he has unusually high levels of iron in his brain. It turns out that Zach has been suffering from an extremely rare condition called infantilel neuroaxonal dystrophy (NAD). Cheryl Marshall was always a happy girl, until she was about to start middle school. She began to sweat more than normal and developed an unpleasant odor. At first, it seemed to be from her hygiene, but showering and deodorants didn't help. Not even surgical removal of her sweat glands have managed to curbCheryl's odor. Her situation feels hopeless, until eventually, she takes part in a special test and learns that she has trimethylaminuria (TMAU).

    • The Boy Who Bit Himself
      The Boy Who Bit Himself
      Season 6 - Episode 8
      A seven-month-old baby named Tristan Durtschi hasn't been able to sit up and hold his head up, begins biting his lip and tongue, banging his head, and hitting his face from having a rare disorder called Lesch-Nyhan Syndrome. Twenty-six-year-old Janelle King has been dealing with fatigue, tingling that spreads from her toes to the rest of her lower body, back pain, and eventually paralysis of her entire body that restricts her lungs due to a rare inflammatory disorder called Devic's Disease.moreless
    • The Boy Who Could Break
      The Boy Who Could Break
      Season 7 - Episode 1
      Bob Williams develops night sweats, a fever, headache, fatigue, light sensitivity, a drooping eye, blindess in his left eye, paralysis of his left side, and hallucinations. His doctors believed he has meningitis, but it turns out that actually, he also has a rare disease called Acute Disseminated Encephalomytelitis (ADEM). Ever since he had been born, Ryan Poteet has had polycystic kidneyes, unusual positioning of his hands, eyes unusually far apart, unusual curvatures of his legs, speech impediments from an unusually shaped mouth, and short stature from a rare skeletal disorder called Hajdu-Cheney Syndrome.moreless
    • The Black and Blue Baby
      The Black and Blue Baby
      Season 6 - Episode 10
      A two-year-old girl named Hannah Hannum appears to have Down Syndrome. She has strange bruises on her body, gets tired easily, and develops infections that go away with antibiotics but return after she finishes them due to a blood cancer called Myelodysplastic Syndrome. A young woman named Carly Ekyhout has been suffering from nausea, vomiting, abdominal cramps, and diarrhea from intussusception.moreless
    • The Baby Who Couldn't Stop Eating
      The Baby Who Couldn't Stop Eating
      Season 6 - Episode 11
      Baby Michael has had unusually long fingers that can bend backwards, a dislocated hip, an indentation in his chest, unsteady and disproportionate limbs, and a tall stature from a potentially fatal condition called Marfan Syndrome. Baby Collin develops multiple ear and respiratory infections, becomes excessively thirsty and lethargic, hypoglycemia, and delayed speech from his hypoglycemia, due to a rare disorder called congenital hyperinsulinism (CHI).moreless
    • The Girl Who Fell Apart
      The Girl Who Fell Apart
      Season 7 - Episode 4
      Ever since she was three years old, Tiffany House has been suffering from a strange set of symptoms. She has incessant colds, bad coordination, trouble keeping her balance, difficulty moving, and trouble with swallowing due to a rare genetic neuromuscular disease called Pompe Disease. A young woman named Amanda Gray develops fatigue, stiff joints, swollen lymph nodes in her neck that eventually go away, chills, high fevers, and weight loss from a rare autoimmune disorder called Kikuchi-Fujimoto Disease.moreless
    • Terrifying Tremors
      Terrifying Tremors
      Season 5 - Episode 8
      Since Gaby Talarico was six months old, she has been having a strange set of symptoms. She gets a rash that somehow disappears after she and her parents move to a new home, has weak enamel on her teeth, comes down with various infections with fevers more often than other children her age, and has several seizures. Doctors believe Gaby just has febrile seizures, when her seizures are actually from extremely low calcium levels. It turns out that Gaby has autoimmune polyglandular syndrome type 1 (APS type 1). Ever since she gets her first period at the age of thirteen, Jennifer Marton Bray has been dealing with extremely heavy periods with severe cramps and nausea. Later, she also develops vertigo that somehow disappears, severe incontinence, and i.b.s. After being dismissed by so many doctors, Jennifer eventually finds out that she has a severe form of endometriosis.moreless
    • The Headache That Wouldn't Go Away
      When little Lariah's parents see her for the first time, they know something is wrong. She is blue and keeps turning blue for some reason. Then, Lariah coughs frequently and chokes on her own food. After many months in the hospital, it is clear that Lariah has surfactant C dysfunction. Laurie Scott, a working mother, has been healthy, until she starts developing headaches. At first, she believes they will disappear on their own, but they don't. Worse, Laurie also begins to have white spots in her vision. She later finds out that her suffering is due to a whole in her heart from patent foramen ovale (PFO).moreless
    • The Girl Nobody Believed
      The Girl Nobody Believed
      Season 5 - Episode 5
      Sean Keefer suddenly develops a sharp sensation in his eye, a fever, muscle aches, chronic diarrhea, and pain in his legs. Eventually, his muscles become so stiff that he can barely move at all. His doctor finds out that Sean has been suffering from Reiter's Syndrome the whole time. Young Kirsten Larson has always been a little heavier than most other girls, but at the age of eleven, she experiences dizziness and a burning sensation in her chest from even the slightest physical exertion. People believed she was suffering from simply being overweight, when actually, she suffers from primary pulmonary hypertension.moreless
    • The Girl Nobody Believed
      The Girl Nobody Believed
      Season 4 - Episode 6
    • The Woman Who Couldn't Cry
      The Woman Who Couldn't Cry
      Season 4 - Episode 10
    • The Woman With A Knife in Her Head
      The Woman With A Knife in Her Head
      Season 4 - Episode 11
    • Parents Pressing for Answers
      Parents Pressing for Answers
      Season 4 - Episode 12
    • Season 4 Finale: The Girl Who Gagged
    • The Girl Who Couldn't Be Touched
      The Girl Who Couldn't Be Touched
      Season 5 - Episode 1
      Ever since Taylor Kielb has been born, her parents have known there was something wrong with her. Taylor has breath-holding spells during which her heart stops. When she is two-and-a-half years old, she also experiences excruciating pain with redness on half her body. After several more years, a doctor confirms that Taylor does indeed have a rare genetic disorder called paroxysmal extreme pain disorder. Tracey Killarney has been healthy and productive, until she suddenly develops excruciating headaches. As if that isn't bad enough, she also experiences nausea, numbness and tingling on half of her face, tingling in her limbs, dizzy spells, coughing spasms, forgetfulness, incontinence, vomiting, and heart palpitations. Eventually, Tracey's doctor finds out that she has a schwannoma.moreless
    • The Girl Who Gagged
      The Girl Who Gagged
      Season 5 - Episode 2
    • The Woman Who Kept Falling Down
      The Woman Who Kept Falling Down
      Season 5 - Episode 3
      Ever since he was first taken home from the hospital, little Avry Conley has had projectile vomiting and diarrhea. It appears to be a virus or food allergy, but he also begins to develop a diaper rash, and becomes lethargic and unresponsive. It turns out that Avry has been suffering from a rare disease called mastocytosis. Growing up on a farm in Minnesota, Linda Smith has always been active. She never went to the doctor, even when she becomes dizzy and fatigued during puberty. However, Linda also experiences headaches that only seem to occur in warm weather, an extremely high pulse rate, blackouts, and eventually, chest pain. Her doctor finds out that she is suffering from orthostatic intolerance.moreless
    • The Girl Who Couldn't Move
      The Girl Who Couldn't Move
      Season 6 - Episode 5

      Carol and Fred Kurpiel adopt two seemingly healthy children, when suddenly, they notice something strange with one of them. For some reason, young Ashley's big toes are in an unusual position with a bump on each of them, and she has a lump on her shoulder, which spreads to her arm. That arm soon gets amputated, and things seem to return to normal, until her parents discover a lump on Ashley's left shoulder. It seems that Ashley has fibromatosis, when actually she has had fibrodysplasia ossificans progressiva (FOP). When twenty-year-old Jake Geiger starts college, he suddenly feels intense pain in his back and discovers infectedcysts on his rear. His problem appears minor at first, but along with the cysts, hedeals withheadaches, fatigue, orange-colored urine, and jaundice. It turns out that Jake's symptoms, except the cysts, are caused by thrombotic thrombocytopenic purpura (TTP).

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