It can be difficult to receive a diagnosis for a rare disease. As with any other condition, staying informed and working with your healthcare team can help you prepare for whatever ails you.
Nurse drawing blood from patient
Congenital Adrenal Hyperplasia (CAH): Unraveling the Genetic Basis and Treatment Options
Amy Schumer
Amy Schumer Has Cushing's Syndrome. What Is It?
Mastocytosis
What Is Mastocytosis?
Asian sportman jogging and checking smart watch between workout jogging outdoor - stock photo
What Is the Cori Cycle?
Jogger's muscles
What Is Glycogen?
Healthcare provider sits across the table from a couple reviewing medical information
What Is XYY Syndrome?
Image of a baby's hand holding an adult's finger
What Is Triple X Syndrome?
Lymphedema legs
What Is Lymphedema?
Asian twin boys
Conjoined Twin Types and Treatment
A lab worker wearing blue gloves putting a sample of blood on a microscope slide.
Symptoms and Causes of Paroxysmal Nocturnal Hemoglobinuria (PNH)
A blue gloved hand holding a vial of blood.
How Paroxysmal Nocturnal Hemoglobinuria Is Diagnosed
A white couple holding hands; the female presenting person is hooked up to a blood transfusion. They are smiling.
Coping With Paroxysmal Nocturnal Hemoglobinuria
A masked lab worker in scrubs performing a blood test.
How Is Paroxysmal Nocturnal Hemoglobinuria Treated?
Cropped shot of a young man suffering with flu while sitting wrapped in a blanket on the sofa at home
What Is Common Variable Immunodeficiency?
A person sits in a chair with a cane leaning against it (Stages of Huntington's Disease)
The 5 Stages of Huntington’s Disease
ill woman with the flu blowing her nose
Symptoms of Common Variable Immunodeficiency
Medical illustration of pancreas highlighted in female body
What Is an Insulinoma?
cropped shot of a woman scratching her arm
Can a Nickel Allergy Cause an Autoimmune Disease?
autoimmune blood
Blood Tests for Autoimmune Diseases
A doctor examines a patient's hand
Autoimmune Diseases That Can Be Fatal
Female doctor discussing with patient in medical room at hospital
What Type of Doctor Treats Autoimmune Diseases?
autoimmune disease
Immune System Disorders and Diseases
sarcoid nodules
How Sarcoidosis Affects the Body
Vasculitis
What Is Behcet's Disease?
A urachal cyst infection most commonly is seen in toddlers
What Is a Urachal Cyst and Is It Serious?
Osteomyelitis
An Overview of Osteomyelitis
Newborn with Mom in NICU
An Overview of Nonketotic Hyperglycinemia (NKH)
Fatigued after exercise
Addison's Disease: An Overview
Child getting exam for Perthes disease
An Overview of Perthes Disease
rear view of a girl at poolside
What Is Erythropoietic Protoporphyria?
Female Scientist in Lab
What Genomic Testing Can Tell You About Health Risks
DNA Research, DNA test results on a computer screen in the laboratory with a tray of samples in the foreground
An Overview of Fabry Disease
Baby test
An Overview of Dravet Syndrome
Parents cradling newborn baby
What Is Beckwith-Wiedemann Syndrome?
Gilbert Syndrome
Gilbert Syndrome—An Overview
Phelan-McDermid Syndrome
What Is Phelan-McDermid Syndrome?
Close-up of a crying baby
An Overview of Cri du Chat Syndrome
Hookworm
Hookworm in Humans: Signs, Transmission, Prevention
Nurse listening to patient lungs
Churg-Strauss Syndrome
pellagra symptoms
The 3 Signs of Pellagra
An image of a male with tree man syndrome
What Is Tree Man Syndrome?
A person pauses for breath while running outdoors
What Medical Conditions Can Cause Muscle Wasting?
Hands over a baby's belly
Prune Belly Syndrome: What It Is and What to Expect
Baby sleeping on a gurney preparing for medical imaging
What Does Hypoplasia Mean?
An unseen person holding a urine sample.
What a Porphyria Urine Sample Measures
Multi ethnic female team studying DNA mutations. Virtual touch screens - stock photo
How Myasthenia Gravis Is Diagnosed
toddler daughter and father
Urachal Remnant: Diagnosis, Cancer Risk, and Removal
Doctor talking to patients
Overview of Fatal Familial Insomnia
Albinism
Oculocutaneous Albinism
Erythromelalgia
What Is Erythromelalgia?
Closeup of a woman's ear. The ear is often affected with relapsing polychondritis.
Symptoms of Relapsing Polychondritis and How It Is Treated
Carotidynia-neck-pain
An Overview of Carotidynia
A person holding a burger and french fry
An Overview of Frey Syndrome (Gustatory Sweating)
Mitochondria TEM
MELAS Syndrome Symptoms and Treatment
woman collapsed in fatigue
Granulomatosis With Polyangiitis
Genetics-Liam-Norris.jpg
The Most Common Types of Dwarfism
Large bruise on a woman's knee
What Is Idiopathic Thrombocytopenic Purpura (ITP)?
Older man with doctor
An Overview of Multiple System Atrophy (MSA)
Senior African American couple, man in wheelchair
Progressive Supranuclear Palsy Overview
woman looking in mirror
What Is Myasthenia Gravis?