Living with XLH has the potential to affect every aspect of a person’s life – education, work, relationships, self-confidence and mental health.
Our research has shown that living with XLH in the UK is often characterised by uncertainty, unknowns and a lack of information about the condition. This is true for both XLH patients and their families and some of the medical professionals they encounter throughout their lives. As a result, many people with XLH have lacked access to appropriate care or support and struggle unnecessarily to manage their complex condition.
Below we explore aspects of XLH that our community has identified as important non-medical considerations.
Hearing difficulties in XLH are primarily associated with abnormal bone development in the middle ear. The middle ear contains three small bones: the malleus, incus, and stapes, which are essential for conducting sound vibrations to the inner ear. In XLH, the ossicles (the tiny bones) can be affected due to inadequate mineralization, leading to hearing impairment.
Otitis media (middle ear infection) is also more common in people with XLH, which can further impact hearing function. Frequent infections and inflammation can cause fluid buildup in the middle ear, leading to temporary or permanent hearing loss.
Additionally, the abnormal bone development in the skull can affect the cochlea, a part of the inner ear responsible for converting sound vibrations into nerve signals. This further contributes to hearing difficulties in XLH individuals.
The severity of hearing impairment can vary among individuals with XLH, ranging from mild to severe. Hearing aids and other assistive devices may be recommended to manage the hearing loss and improve communication abilities.
Without treatment or with late diagnosis, individuals with XLH may have to undergo orthopaedic surgery to correct lower limb deformities. These can occur in three planes: coronal (side-to-side), sagittal (front-to-back), and torsional (twisting) and the surgeon will aim to align the lower limbs properly and make the joints mobile and comfortable.
Surgical treatment involves making cuts in the bones (osteotomies). This type of surgery can have complications and generally it is best to delay surgery until growth stops and the underlying metabolic disorder has been stabilised.
An alternative approach is guided growth techniques, where the surgical correction is done at the growth plates of the bones. This helps to normalize the forces acting on the joints and promote normal growth. This can improve bowing, but does not correct twisting of the bones and is best done at least 2–3 years before skeletal maturity (age 14 in girls and age 16 in boys).
People with XLH are at increased risk of developing insufficiency fractures. Insufficiency fractures occur when the bone is subjected to normal or minimal stress, but due to its weakened state is unable to withstand the load, resulting in a fracture. These fractures often occur in areas of the bone that experience repetitive stress, such as the hips, feet, and spine. The treatment and healing time for a fracture is similar to the treatment for fractures in individuals without XLH, providing the underlying metabolic disorder is being adequately treated.
Fatigue & Sleep
Fatigue is a profound tiredness – beyond feeling sleepy – that affects many people with XLH. This is because muscle pain and musculoskeletal issues can affect your ability to sleep properly and exercise regularly, which on top of the normal challenges of life can become overwhelming and trigger fatigue.
One effective method is pacing, which involves dividing your daily tasks into manageable units of energy. By spreading these units evenly throughout the day and week, you can prevent fatigue from taking over. Good sleep hygiene is also an important part of managing your energy levels. Once you have done what you can to minimise pain, you can find further recommendations on how to improve your sleep from the NHS here.
Muscles and Joints
Muscle strength is lower in XLH patients compared to healthy individuals, even without changes in muscle size. This may be linked to the level of available ATP, the “fuel” which powers muscle contraction.
Enthesopathies (abnormalities where tendons and ligaments attach to bones) are common in adult XLH patients and may not be fully addressed by conventional therapy. Make sure that anyone devising a therapy or exercise program for you is aware that you may not be able to achieve a full range of movement on some joints.
If you are female and have XLH, you may be wondering how XLH affects family planning and the menopause. We have more about how XLH is passed between family members and about pregnancy in the section on family planning.
The advice for females with XLH going through menopause is the same as the general public. There are no problems with women with XLH taking HRT for menopausal symptoms and should discuss with your GP.
We would also encourage the usual screening programmes in women’s health i.e. smears (aged 25-64 in UK), mammograms (aged 50-70 in UK).
Thinking about having children?
Exercise and physiotherapy
Exercise is important for people with XLH as it can help to maintain and increase muscle and bone strength, improve overall health and well-being, and prevent complications such as falls and fractures. We recommend you consult your healthcare professional to develop an exercise plan that is safe and appropriate for your needs and abilities.
A good exercise plan may include a combination of the following:
- Weight-bearing exercises: These exercises involve working against gravity and include activities like walking, stair climbing, and dancing. They help to build and maintain bone density and strength.
- Resistance exercises: These exercises involve working against resistance, such as weights, resistance bands, or body weight. They help to build and maintain muscle strength.
- Balance and coordination exercises: These exercises help to improve balance and coordination, reducing the risk of falls. Examples include tai chi and yoga.
- Aerobic exercises: These exercises improve cardiovascular fitness and endurance, include activities like cycling, swimming and jogging.
Start with low-impact exercises and gradually increase the intensity and duration as strength and endurance improve. Avoid high-impact exercises or activities that put excessive stress on the bones, such as jumping or contact sports. There are no specific physical therapy recommendations for XLH patients, so programs are typically based on therapies for individuals with knee or hip osteoarthritis.
Fatigue and restricted mobility are often inhibitors to starting an exercise regime, but physiotherapists and personal trainers can help you to tailor a program that suits you.
A Hidden Disability: XLH can be a hidden disability, in which others are not aware that you are carrying the extra burdens of a condition that causes fatigue and chronic pain. The choice whether to share this information is yours, but if you would like others to know we recommend wearing a sunflower lanyard. This can be a talking point in social situations, or an indicator to others that you may need extra assistance when travelling.
Employment: Dealing with a condition like XLH can be exhausting, and require extra time to attend medical and dental appointments. It is your choice whether to tell your employer of the condition you have and request reasonable time off for appointments or flexible working arrangements.
Many people with XLH retire early or work part-time and this can impact family income. You may be eligible for Personal Independence Payments (PIP) which is for people who have a long-term physical or mental health condition or disability which makes it difficult doing everyday tasks or moving about due to their disability. It has a point system to assess daily challenges. After assessment, payment may be given to help those affected to lead full, active, and independent lives. For adults, it doesn’t matter if you’re in or out of work or if you have savings. The Department of Work and Pensions (DWP) provides several overviews such as this one.
Living with a Lifelong Condition
Having a lifelong, progressive condition affects individuals in different ways. If you are part of a family with others with the condition, it may be something that you have grown up accepting and accommodating. Or you may be depressed or worried as you consider the future or deal with current issues.
Children who have happily accepted medical treatment may become resistant to interference in adolescence, wanting to hide or minimise their condition from their peers. For many young adults, physical differences such as height or gait can affect self-confidence and relationships. Starting a family is a challenge for everyone, but can place additional strains on you physically if you have XLH.
Relationships and Sex: Having a chronic condition can affect self-confidence and relationships in various ways. Living with the condition can create both physical and emotional barriers, which can put a strain on relationships. Pain and lack of mobility can impact libido. For some couples, fatigue and worries about health can cause a breakdown in communication and intimacy. Counselling from specialist sexual and relationship therapists help people adapt to, or communicate about, their difficulties. Relate offer advice to both couples and single people experiencing relationship or sexual difficulties.
Counselling can be very helpful to support mental health if you are going through a tough patch. You can find a list of registered therapists through the Association of Psychotherapists.
Mindfulness You might also consider practicing meditation to build mental resilience and help you to manage depression, anxiety and other negative mood states. Mindfulness is when you bring your full attention to whatever’s happening in the present moment.
Mindfulness teaches you to keep your mind on the present moment by following the natural movement of breath in and out of your body. It’s a valuable skill that you can learn, which has proved effective in managing mood and building self-esteem when practiced regularly.