Living with Hunter syndrome

Caring for a child with Hunter syndrome can affect every area of daily life, not just in terms of medical needs, but also the social, emotional and lifestyle impact.

There will be lots of appointments with doctors and other healthcare providers, which are discussed in more detail in this section of this website. You may need to talk to your employer about having time away from work to attend appointments, or to care for your child. The leaflet Information for employers found on the Family and relationships page has more information on this.

Hunter syndrome will impact on the lives of the family and friends of someone with the disease, emotionally and practically. There are several forms of support available, see the Resources page for more information.

In this section you can learn more about the practical ways in which you can support your child, your family and yourself.

Healthcare

Hunter syndrome may affect several different parts of the body, meaning that to manage the range of symptoms, a team of healthcare professionals of a variety of specialisms may be involved in your child’s care. This is sometimes referred to as a multidisciplinary team (MDT).

It is recommended that at diagnosis, a full assessment is made of commonly affected parts of the body. These areas are then checked at intervals dependent on the individual’s needs and on the usual practice of your local specialists.
 

Overview of the specialists

Some of the specialists who may be part of the team of healthcare professionals caring for your child are described below.

A paediatrician is a specialist in the medical care of babies, children and young people. Hunter syndrome often presents in young childhood, so your family doctor (general practitioner) may refer you to a paediatrician to begin with, and your paediatrician may become your main contact for medical care.

At check-ups, a paediatrician will do a physical examination, which may include checking your child’s height, weight, hearing, vision, joints and bones, and lung function.

How often you will have check-ups depends on your child’s age and what is available at your local centre. In general, children under 1 year old will have check-ups every couple of months, then between the ages of 1 and 2 years, you’ll have check-ups every 3–6 months. From 2 years old, the check-ups will be less often.

An ENT specialist (also known as an otolaryngologist) is an expert in conditions affecting the ears, nose and throat. Hunter syndrome commonly causes symptoms affecting these areas, such as hearing problems, ear infections, chronic runny nose and problems with swallowing.

Routine ENT examinations may include hearing tests (recommended to be carried out every 6–12 months) and checking breathing (every year).

Repeated ear infections, or hearing problems due to fluid build-up (known as glue ear), may result in the ENT specialist advising that T-tubes or grommets are fitted (a very small tube placed in the eardrum to drain fluid). Sometimes removal of the adenoids or tonsils can be recommended. Hearing problems can also be helped with the use of a hearing aid.

A cardiologist specialises in conditions affecting the heart and circulation of the blood. The build-up of glycosaminoglycans (GAGs) caused by Hunter syndrome can cause problems with the heart’s valves and muscles, the regularity of heartbeats and blood pressure.

Tests that may be carried out by the cardiologist to assess the heart include an echocardiogram (visual monitoring via ultrasound) or electrocardiogram (ECG; monitors the electrical activity of the heart). The frequency of cardiac assessments will depend on the needs of the individual, but the recommended frequency is every 1–3 years.

Neurologists specialise in the nerves and brain. It is recommended that the head and neck are imaged every 1–3 years, to check on the brain and spinal cord.

Hunter syndrome often causes carpal tunnel syndrome (compression of nerves in the hand and wrist), which should be checked for at the age of 4–5 years, and then every 1–2 years. Carpal tunnel syndrome can be corrected surgically, however, anaesthesia for surgery presents risks for patients with Hunter syndrome because of the associated breathing problems.

Cognitive ability and behaviour are also checked at yearly intervals. The neuronopathic type of Hunter syndrome causes developmental delay, behavioural problems and progressive cognitive decline, so it is important that this is assessed at yearly intervals. If you think your child is due his assessment, you can contact your neurologist to request an appointment.

A neuropsychologist may be part of the healthcare team, and you may have regular check-ups with this specialist to help with behavioural, emotional and social issues.

Pulmonologists are specialists in the lungs and respiratory tract, and can help with the breathing problems and airway obstruction that can arise in Hunter syndrome.

It is recommended that breathing ability is checked annually, and visualising of the airways with bronchoscopy carried out as often as necessary, and before any surgery.

Breathing during sleep is often problematic for those with Hunter syndrome. It is recommended that a sleep study is carried out every 3–5 years, or if there is a suspicion that obstructive sleep apnoea (temporary blocking of the airway during sleep) may be occurring. Breathing apparatus can be used during sleep to help ease this problem. If there are obstructions to the airway, these may be surgically removed.

An orthopaedist is an expert in the management of bone and joint conditions, and can address the problems with mobility, bone and spine shape, joint stiffness and so on that may arise in Hunter syndrome. It is advised that joint movement is assessed annually, and X-rays may be taken if problems are suspected with the spine and hip.

Some patients may require surgery to improve these problems. Physiotherapists can help improve mobility and joint movement, and may advise a set of exercises for this. Orthopaedic devices such as walking aids, braces or orthotic shoes may also be recommended to improve mobility.

Standard dental check-ups (6-monthly) and sight tests (annually) are recommended for those with Hunter syndrome. Other specialists you may be referred to include speech and language therapists, gastroenterologists (to help with digestive system problems) and dieticians. You may also have appointments with specialists in Hunter syndrome, such as specialist nurses, lysosomal storage disorder specialists, and geneticists. Occupational therapists may also advise on adapting the environment to the individual’s abilities.

Useful Information

  • The information leaflet Discussing Hunter syndrome with your child’s doctor includes some pointers that you may find useful for making the most of your healthcare appointments.
  • As you may have check-ups with several different healthcare professionals, it helps to keep a record of when these are scheduled for and what will be discussed.
  • It helps to make notes during appointments, keep informed of test results, and ask questions to be sure that you understand the information given to you.
  • To keep track of changes in your child between appointments, you can make notes in the Hunter syndrome diary. This may be a useful record to bring with you to healthcare appointments to aid discussions.
  • Keeping active is a great way of using up energy and having fun, as well as exercising muscles and joints. Consult your doctor about what level of activity is appropriate and take care to accommodate the child’s abilities and overall health.
  • Patient support groups and societies can be a great help; you can become friends with families experiencing similar situations to you, and get advice on living with Hunter syndrome.

The Hunter syndrome diary elps to keep track of changes in your child between appointments, a useful record to bring to healthcare appointments to aid discussions.

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