Clinical

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...

Newborn 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...

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...

Receiving 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...

X-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...

X-linked hypophosphatemia (XLH) is a rare genetic disorder that affects the whole body. A person with XLH does not process the nutrient phosphorus properly but instead passes it out in...

X-linked hypophosphatemia (XLH) is a genetic disorder that affects how the body processes phosphorus (phosphate). Phosphorus is an essential mineral for healthy bones and growth. When XLH the body does...

People with X-linked hypophosphatemia (XLH) develop a wide range of symptoms such as weak bones and teeth, fractures, fatigue, and muscle weakness. This life-long condition requires treatment on several fronts...

X-linked hypophosphatemia (XLH) is a rare disorder that causes low phosphorus levels. This happens because people with this condition pass the mineral phosphorus in the urine rather than using it...

Young people living with a rare disease are living longer than ever. That’s the good news. The less-good news is that not many places exist for teens and caregivers to...

When your child lives with a rare disease, you expect to make regular visits to the doctor for care. But sometimes the unexpected happens, which could mean a trip to...

Keeping track of your medical records is essential for your health, especially when you or your child has a rare disease. With organized medical records, you can track changes and...

Even if you have lived with adult-onset Still's disease (AOSD) for years, new terms can come up often. Whether you are new to the AOSD world or wanting to understand...

A rare disease diagnosis affects the entire family. When a rare disease touches a child, parents become caregivers. Taking care of the child and maintaining their health may become all-consuming...

In people with adult-onset Still’s disease (AOSD), the immune system does not work the way it should. Instead, their immune system proteins cause too much inflammation. Over time, this can...

End-stage kidney disease (ESKD) is when your kidneys are barely working or have stopped working. This condition is also called kidney failure. If you have kidney failure, you will need...

Many rare kidney diseases currently have no cure. However, there are treatment options that can help.1-3 There are several factors to consider when creating a treatment plan for a rare...

Rare kidney diseases can affect people of all ages and backgrounds. There are more than 150 different types of these diseases, and each one has unique features. Even the same...

Right now, there is no cure for Pompe disease. The main treatment is enzyme replacement therapy (ERT). ERT drugs help replace the protein (enzyme) that is low or missing in...

The kidneys filter extra water and waste out of the blood and make urine. They also make hormones that help control blood pressure and trigger the body to make red...