Questions to Ask Your Doctor When You Have X-linked Hypophosphatemia

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 treatment options is important for managing XLH well.

The questions below are designed to help you better navigate and understand the complex health challenges you may face when you or your child has XLH.¹

Understanding your diagnosis

X-linked hypophosphatemia is often diagnosed in infancy or early childhood if symptoms are more severe. But people with mild forms of XLH may not be diagnosed until adulthood. Gaining a deeper understanding your diagnosis will empower you on your healthcare journey. You may want to ask your doctor some of the following questions:^1,2

• What tests did you run to make a diagnosis of XLH?
• Is it possible I have a different condition or disease?
• What do the test results mean?
• Will these tests need to be repeated later? If so, which ones?
• How severe is my XLH? Will I have it for the rest of my life?
• Will I lose my hearing?
• What is my life expectancy?
• Do I need to see other specialists?
• Can you tell if I inherited XLH from a parent?
• Do I need genetic testing and counseling?

Questions about your treatment plan

A diagnosis of X-linked hypophosphatemia leads to a complex treatment plan, especially if your symptoms are more severe. Depending on your individual needs, some questions to ask about treatment may include:^1,2

• What treatments do I need?
• Are these pills or injections?
• How often will I need to take these drugs?
• What are the side effects? How common are these side effects?
• How troublesome do your other patients find these side effects? How do your other patients cope with side effects?
• Will I need to take these drugs for the rest of my life?
• Will the doses change over my lifetime?
• How will we know the drugs are working?
• Will my insurance pay for my treatments? Can you help me plan for the costs that insurance doesn’t cover?
• Will I need regular tests to monitor my blood phosphorus levels?
• Will I need surgery?
• Could physical or occupational therapy help me manage certain symptoms?

Communicating with your healthcare team

A supportive and caring healthcare team is key to help you manage your X-linked hypophosphatemia. These professionals will be critical to your quality of life, so you need to be able to talk with them openly as often as you need. Here are some suggestions for establishing and maintaining a good working relationship with your doctors and other people involved in your care:^1,2

• Who is the best person to ask if I have questions or concerns about new symptoms, my treatments, or side effects?
• Should I call or email this person? How do I reach you outside regular office hours?
• What side effects or worsening symptoms do you want to know about right away?
• How often will I need to have follow-up appointments?
• Do you support telehealth visits?
• How will you coordinate with the other specialists on my team?
• What other specialists do I need on my healthcare team?
• Who should I call if I feel overwhelmed?
• Is this the time to consider a second opinion?

Improving your quality of life

Besides drugs and surgery, your healthcare team may be able to suggest diet, exercise, and school or work accommodations to keep you as healthy as possible. Support groups may also be a valuable source of information for improving your quality of life. Some questions to ask are:^1,2

• Should I follow a special diet high in phosphorus, vitamin D, and calcium?
• How do I preserve my mouth and tooth health as much as possible?
• Is it safe to exercise? How much? Are some types of exercise safer for me than others?
• What accommodations do I need to request of my child’s school, daycare, or camp?
• Can I still work? What are the accommodations I may need to request?
• Would a physical or occupational therapist be able to help if I begin to have problems with activities of daily life?
• Can you recommend a support group or counselor who specializes in helping families with XLH?
• Are there signs of mental or emotional stress I should watch for?

There are no right or wrong questions. You may want to keep a list handy on paper or in your phone to jot down questions or concerns as you think of them. You can also use a notebook or the recording feature on your phone to keep track of what your healthcare team tells you as they give you answers.

Remember, understanding your XLH will help you better manage the condition. Don’t be shy about asking questions.