Skip to main content
Welcome to the new updated!

XLH diagnosis

Prepare for your visit

Actor portrayal

How to prepare for your visit

The more engaged you are at your doctor visit, the easier it will be for your doctor to diagnose you or your child. When living with a rare disease, you may have a lot of medical records and concerns you want to share with your doctor. Here are some strategies to help you make the most of your conversation during your appointments:

Be ready to share your or your child’s medical and family history

Write down any symptoms you or your child have had as well as medications either of you are taking

Bring a list of any questions you have and some educational resources that can help guide the conversation

Gather your insurance information and bring it to the visit

At the appointment ask about getting diagnosed. There are several tests your doctor can give you to determine if you have XLH. One of these is called a fasting serum phosphorus test

The letter i within a diamond denoting a callout

Talking to your doctor

Need help preparing for your or your child’s appointment? The XLH discussion guide can help.

Discussion guide

What to expect during your visit

At appointments, your doctor may:

  • Ask questions about family history of symptoms associated with XLH
  • Recommend laboratory or genetic testing to help confirm a diagnosis
  • Discuss treatment options that may help improve symptoms

Sometimes, further testing is needed

As a rare genetic condition, XLH is often undiagnosed or misdiagnosed, and symptoms can continue to progress over time. There is a chance you'll need to see more than one doctor to get an accurate diagnosis. Testing for it is a multistep process. It can be helpful to conduct certain tests like those that measure the amount of phosphorus in your blood.
First, the doctor has to assess the signs and symptoms you or your child may be experiencing. Then, they have to understand your or your child’s family history.

When children are evaluated for XLH:

If there is no family history of the condition, the appearance of bowed legs or knock knees may suggest that further testing is needed to determine if XLH is the cause.

When adults are evaluated for XLH:

If there is no family history of the condition, doctors may need to conduct further testing to determine if your symptoms are caused by XLH. It may take some time to reach a diagnosis, but you can play an active role at your doctor visits.
Join the community

Sign up to receive helpful resources, get important event invites, and hear real patient stories that will support you on your journey.

Sign up