Demystifying Primary Immunodeficiency TreatmentPrimary immunodeficiency (PI) is a group of more than 400 chronic disorders, including many rare diseases, in which part of the body's immune system is missing or does not function...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 someone with PI. This article will help you...reactionscomments
Overcoming Infusion Anxiety for People With Primary Immunodeficiency (PI)Living with primary immunodeficiency (PI) means your body has trouble fighting off infections. This is because your immune system, which is supposed to protect you, does not work as it...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 immune system that are present at birth, although...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 of different doctors and therapists. This is called...reactionscomments
Practical Tips for Managing Day-to-Day Life With DMDLiving with Duchenne muscular dystrophy (DMD) can bring many challenges each day. As a caregiver, you play a very important role in helping your child live as fully and comfortably...reactionscomments
Transitioning to Adult Care With Congenital Adrenal HyperplasiaCongenital adrenal hyperplasia (CAH) is a lifelong condition that affects the adrenal glands, causing hormonal imbalances. For those with CAH, moving from pediatric to adult medical care is critical. But...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 is due to a mutation, or change, in...reactionscomments
Understanding Duchenne Muscular DystrophyDuchenne muscular dystrophy (DMD) is a rare genetic disorder that causes muscle weakness and degeneration that gets worse over time. It is the most common and, unfortunately, one of the...reactionscomments
Questions to Ask Your Doctor When You Have Primary Biliary CholangitisPrimary biliary cholangitis (PBC) is a lifelong condition. If you are facing a PBC diagnosis or have been living with PBC, you may feel a lot of uncertainty. Your healthcare...reactionscomments
Treating Primary Biliary CholangitisPrimary biliary cholangitis (PBC) is a long-term medical condition that impacts the liver. While PBC has no cure, treatments may help slow the disease. This may prevent complications or serious...reactionscomments
Complications of Primary Biliary Cholangitis: What to KnowPrimary biliary cholangitis (PBC) is a chronic condition that impacts the bile ducts in the liver. Although PBC primarily affects the liver, it can cause complications throughout the body. Many...reactionscomments
Understanding Primary Biliary CholangitisPrimary biliary cholangitis (PBC) is a chronic condition that affects the liver. Chronic means that it lasts for life. It is also progressive, which means it can get worse over...reactionscomments
Understanding Congenital Adrenal HyperplasiaCongenital adrenal hyperplasia (CAH) is a group of rare genetic disorders that affect the adrenal glands. The adrenal glands are 2 walnut-sized organs located above the kidneys. They produce essential...reactionscomments
What to Know About Rare Motor Neuron DiseasesMotor neuron diseases (MNDs) are a class of diseases that affect certain important cells. These cells, called motor neurons, control the muscles that help with movement. Your body uses motor...reactionscomments
How Is X-linked Hypophosphatemia Diagnosed?X-linked hypophosphatemia (XLH) is a chronic, progressive disease, so early diagnosis is important to stop symptoms from getting worse. XLH is diagnosed using a combination of blood, urine, and imaging...reactionscomments
What to Know About Newborn Screening and Rare DiseasesNewborn screening (NBS) is a program in the United States that tests all babies for certain treatable medical conditions. Early detection and treatment with NBS is critical for children with...reactionscomments
How Is X-linked Hypophosphatemia Treated?X-linked hypophosphatemia (XLH) is a life-long condition in which the body does not process the nutrient phosphorus properly. Because phosphorus is necessary for a host of important functions, a wide...reactionscomments
Questions to Ask Your Doctor When You Have X-linked HypophosphatemiaReceiving a diagnosis of X-linked hypophosphatemia (XLH) can be challenging and overwhelming at first. Whether you are diagnosed as a baby, a child, or an adult, understanding your condition and...reactionscomments
X-linked Hypophosphatemia and GeneticsX-linked hypophosphatemia (XLH) is a genetic condition. People with XLH have changes in a specific gene that affect how their body uses the mineral phosphorus (phosphate). These gene changes are...reactionscomments