FrançaisHow to prepare for an appointment
Find some strategies to help make the most of your conversation during appointments:
Be ready to share medical and family history.
Write down any symptoms experienced.
Bring a list of questions and some educational resources that can help guide the conversation.
Gather insurance information and bring it to the visit.
At the appointment, ask for a phosphorus test. It's not always part of a standard series of tests.
What to expect during the appointment
At appointments, the doctor may:
- Ask questions about family history or symptoms associated with XLH
- Recommend laboratory or genetic testing to help confirm a diagnosis
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 that more than one doctor is needed 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 that may be experienced. Then, they have to understand the family history.
“Just knowing that there was an answer
and a reason why was probably the best
part of learning my diagnosis.” Emily, living with XLH
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 the symptoms are caused by XLH. It may take some time to reach a diagnosis.
Taking the next step
Set goals for XLH management
Learn about XLH management goals and options.
Explore resources
Connect with others by visiting other associations or forums available.