Signs and Symptoms of hATTR-PNLiving with unexplained health changes can feel like trying to solve a puzzle with missing pieces. Many people with hereditary transthyretin amyloidosis...reactionscomments
Keeping Your Medical Records OrganizedKeeping track of your medical records is essential for your health, especially when you or your child has a rare disease. With...reactionscomments
Understanding and Managing the Non-Pancreatitis Symptoms of Familial Chylomicronemia SyndromeWhen people talk about familial chylomicronemia syndrome (FCS), they often focus on acute pancreatitis. This severe abdominal pain is a serious and...reactionscomments
What Is Familial Chylomicronemia Syndrome (FCS)?Familial chylomicronemia syndrome, or FCS, is a metabolic disorder. This means it is a problem with how the body processes substances to...reactionscomments
Taking Control of Your PI Treatment at HomeLiving with primary immunodeficiency (PI) can feel like a life managed by the schedule of your infusions. For years, intravenous immunoglobulin (IVIG)...reactionscomments
The Diagnosis Journey: Primary Immunodeficiency (PI)A long and difficult road may face people with primary immunodeficiency, also known as PI. It is not always easy to diagnose...reactionscomments
Understanding Primary Immunodeficiency (PI)Primary immunodeficiency, or PI, is a group of chronic disorders, including many rare diseases. These diseases are caused by problems in the...reactionscomments
Pompe Disease and GeneticsPompe disease is a genetic condition. People with Pompe disease have changes in specific genes that impact how they break down sugar...reactionscomments
Nutrition and Exercise With Pompe DiseaseRight now, there is no cure for Pompe disease. The main treatment is enzyme replacement therapy (ERT). ERT drugs help replace the...reactionscomments
Pompe Disease: What You Need to KnowPompe disease is a rare genetic condition that affects the muscles that connect to your bones and heart. It is also called...reactionscomments
Building Your Child's DMD Care TeamCaring for a child with Duchenne muscular dystrophy (DMD), a condition that makes muscles weaker over time, will likely involve a team...reactionscomments
Treatments for Duchenne Muscular DystrophyDuchenne muscular dystrophy (DMD) is a genetic disorder in which the muscles in the body weaken and break down over time. This...reactionscomments
Children and Rare Diseases: Tips for Navigating Emergency CareWhen your child lives with a rare disease, you expect to make regular visits to the doctor for care. But sometimes the...reactionscomments
Doctors and Specialists Who Treat X-Linked HypophosphatemiaPeople with X-linked hypophosphatemia (XLH) develop a wide range of symptoms such as weak bones and teeth, fractures, fatigue, and muscle weakness...reactionscomments
Exercising When You Have a Lung ConditionShortness of breath and fatigue are common symptoms of lung conditions. These issues can make it hard to want to exercise. They...reactionscomments
Signs and Symptoms of X-linked HypophosphatemiaX-linked hypophosphatemia (XLH) is a rare genetic disorder that affects the whole body. A person with XLH does not process the nutrient...reactionscomments
How Is Adult-Onset Still’s Disease Treated?In people with adult-onset Still’s disease (AOSD), the immune system does not work the way it should. Instead, their immune system proteins...reactionscomments
What Is the Difference Between Still’s Disease, Juvenile Idiopathic Arthritis, and Rheumatoid Arthritis?Adult-onset Still’s disease (AOSD), systemic juvenile idiopathic arthritis (SJIA), and rheumatoid arthritis (RA) are all forms of arthritis that share many similar...reactionscomments
Questions to Ask Your Doctor When You Have Adult-Onset Still’s DiseaseLiving with adult-onset Still’s disease (AOSD) can be challenging and sometimes confusing. Even if you have been living with it for years...reactionscomments
How Do I Know If I Have Adult-Onset Still’s Disease?Adult-onset Still’s disease (AOSD) is a rare inflammatory condition that affects mostly the joints. But it can affect many other areas of...reactionscomments
