By treating children, specialist doctors aim to improve the rate at which they grow, reduce their leg bowing, decrease bone disease and pain and increase their phosphorus levels.
XLH is a lifelong condition. The experiences you may have had as a child with XLH may be very different than those of your children. Treatments have changed and the types and severity of symptoms vary from person to person.
Goals of treatment
By treating children, specialist doctors aim to improve the rate at which they grow, reduce their leg bowing, and decrease bone disease and pain. Data suggest that the earlier a child is diagnosed and treatment is begun, the better it is for the child’s long-term health.
Currently specialist doctors use two key medicines to treat XLH in children – vitamin D substitutes (calcitriol or alfacalcidol) and phosphates. These medicines don't treat the underlying cause of XLH (phosphate wasting) but instead attempt to replace the minerals that are missing. Both medicines are available as liquids, which makes them easier for children to take.
There are additional ways to treat the symptoms of XLH:
Physical therapy and occupational therapy
Physical therapy can help reduce your child’s pain by improving their joint stability and flexibility and the strength of their muscles. They may also learn how to move and sit to help avoid pain. Occupational therapy can help children learn some new tips and tricks to help them manage everyday tasks.
People with XLH tend to have weaker muscles, so getting active can help. Ask your child’s specialist doctor about the type and level of activity that could help.
Although you can purchase painkillers for children from your pharmacy, it is best to get them following advice from your family doctor. Your doctor will be able to advise you on dose and which painkillers are best if your child needs regular pain relief. You should always tell your family doctor or healthcare team if they are taking any non-prescribed medicines – this includes pharmacy and complementary medicines, such as herbal or homeopathic treatments.
Children with XLH often have trouble with both their first and second sets of teeth. Tell your family dentist that your child has XLH so they know what to look out for. Good dental hygiene and regular check-ups are essential. Also, it has been shown that children who take phosphate and vitamin D substitutes regularly have fewer dental problems as they grow, and throughout adult life.
We all have tiny bones in our ears and these, like every other bone in the body, can be affected by XLH. Symptoms include hearing problems, dizziness (vertigo) or ringing in the ears (tinnitus). Although ear problems tend to be more common in adults, they can affect children. So, if your child seems to be having difficulty hearing, or has any other ear-related symptoms, make an appointment to talk to their specialist doctor.
Surgery isn't common in young children and is decided on a case-by-case basis. If your child does require surgery, the medicines they take might need to be adjusted leading up to surgery.
Genetic counselling can help children and parents deal with information on the nature, inheritance and implications of XLH, to help them make informed medical and personal decisions.
Other forms of counselling, such as cognitive behavioural therapy (CBT), have been shown to be useful for children and adolescents with health issues.
Responsibility of care
As we grow older, we become more independent and able to make decisions for ourselves. However, the transfer of responsibility from parent to child doesn't happen overnight – it’s a gradual process. Doctors tend to begin involving children in decisions about their care. Once a child reaches 16 to 18 years, their care will be routinely transferred from their paediatric (childhood) team to an adult healthcare team.
It’s not uncommon for older teenagers to stop seeing their healthcare team and stop taking their medicines. There are many reasons why this can happen. For example, their symptoms have become less problematic or they may have become fed up with having to take medicine every day. It’s perfectly understandable, as very few people enjoy taking medicines or relish the experience of being ill. Parents and healthcare teams need to work closely with young people and support them as they enter adult life. The effects of low phosphorus will continue throughout their lives. So, it’s important to encourage them to see their specialist doctor regularly and engage with their treatment.