Caring for a Child With X-linked Hypophosphatemia

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 not have enough phosphorus, it causes a range of symptoms.^1,2

If your child has been diagnosed with XLH or you suspect they have it, you can make a real difference in their life and keep their quality of life as high as possible.

• Poor growth
• Bowed legs
• Shortness
• Dental problems
• Muscle weakness
• Bone and joint pain
• Fatigue

Depending on how severe the XLH is, there may be development delays too. Some children with XLH may take longer to learn to stand and walk.^1,2

Some of the ways caregivers can support a child with XLH include:¹

• Talk to your child’s healthcare team about pain management. Bone and joint pain is common in both children and adults with XLH. A combination of pain relievers and physical therapy may be needed.
• Set up regular check-ups with your dentist and make sure your dentist understands your child’s diagnosis.
• Encourage your child to brush and floss often.
• Advocate for your child at their school with their teachers, school counselor, school nurse, and principal. Your child may need special accommodations that may be outlined in a 504 or IEP plan.
• Ask your child about school often and listen for signs that they are being bullied.

What treatments will my child need?

A comprehensive treatment plan is essential for children with XLH. This plan should include a team of healthcare professionals, including:²

• Pediatric endocrinologist
• Orthopedist
• Dentist
• Physical and occupational therapists
• Dietitian

Regular check-ups and tests, such as bloodwork and X-rays, will be needed to monitor your child's progress.²

Your child will probably need to take phosphate and vitamin D supplements. Drugs like bursomab (Crysvita®) and growth hormones may be prescribed to help their body process phosphorus better and grow. Some children may need braces or surgery to correct bone growth.²

What else can I do to help my child?

Medical care is vital for someone with XLH, but so is a supportive and nurturing environment at home and school. Here are a few ways you can make a difference:^1,2

• Encourage a healthy lifestyle. Serve a balanced diet rich in calcium and vitamin D. Help them get regular exercise that helps strengthen their bones and muscles.
• Foster emotional well-being. Offer your child support and hope. Help them make friends and social activities. Let them know they are loved unconditionally and that you are there for them every step of the way.
• Help them transition to adult care. Your child will grow up to become an adult with XLH. Help them learn to care for themselves by encouraging them to ask questions of their doctor at any age. By their teen years, they may be able to call for drug refills and follow-up appointments, and keep their own symptom diary.
• Find support. Reach out to organizations and communities that specialize in XLH or other rare diseases. Talk with other families facing similar challenges to find valuable tips, resources, and a sense of belonging.

Caring for a child with X-linked hypophosphatemia is complex and requires medical care and emotional support. By understanding the condition, staying involved in your child's treatment plan, and creating a nurturing environment, you can make a positive impact on their journey.

Remember, you are not alone. There is a community ready to offer support and share experiences. You can help your child thrive despite the challenges of XLH.