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...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...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...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...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...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...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...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
Caring for a Child With X-linked HypophosphatemiaX-linked hypophosphatemia (XLH) is a genetic disorder that affects how the body processes phosphorus (phosphate). Phosphorus is an essential mineral for healthy...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
What Is X-linked Hypophosphatemia?X-linked hypophosphatemia (XLH) is a rare disorder that causes low phosphorus levels. This happens because people with this condition pass the mineral...reactionscomments
Transitioning From Pediatric to Adult Care With a Rare DiseaseYoung people living with a rare disease are living longer than ever. That’s the good news. The less-good news is that not...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
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
Terms to Know When You Have Adult-Onset Still’s DiseaseEven if you have lived with adult-onset Still's disease (AOSD) for years, new terms can come up often. Whether you are new...reactionscomments
The Impact of Rare Disease on SiblingsA rare disease diagnosis affects the entire family. When a rare disease touches a child, parents become caregivers. Taking care of the...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
Preparing for End-Stage Kidney DiseaseEnd-stage kidney disease (ESKD) is when your kidneys are barely working or have stopped working. This condition is also called kidney failure...reactionscomments
Signs and Symptoms of Rare Kidney DiseasesRare kidney diseases can affect people of all ages and backgrounds. There are more than 150 different types of these diseases, and...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
