Living with Hurler syndrome (brain involvement)

Hurler children are usually affectionate, pleasant and rather placid children but sometimes may become frustrated due to difficulty communicating or not being able to do what they used to do, for example. They may be unaware of danger or become confused and occasionally may have aggressive episodes.

 Without treatment, brain function in Hurler children will deteriorate. Initially, they will be able to learn although it will be more difficult for them than children without similar problems. Their rate of learning will slow by about 18 months or so, although sometimes significantly later – the pattern is varied. Their ability to talk and communicate will also gradually be lost (talking may initially be delayed due to deafness), and their ability to concentrate and understand will be less than that expected for their age. Toilet training skills will be lost and eventually also the ability to swallow. They will become more unsteady on their feet, and tend to fall frequently as they walk or run; eventually the ability to walk will be lost.

 This gradual decline is very upsetting to family and friends but it is important to know that even when the child starts to lose skills they have learned there may be some surprising abilities left. Children will continue to find enjoyment in life even if they lose the ability to speak.

 Behavioural problems

Difficult behaviour is generally not a major issue in Hurler syndrome but may occur. If it is a problem, therapy may offer some help but the usefulness of a particular behaviour modification technique may be short-lived because behaviour is likely to change as the disorder progresses. Medications can sometimes help but will usually require regular medical review to help maintain effectiveness.

 It may be helpful for the child to join a play group or attend a school or after school program where a variety of activities can occupy them. Ideally there should be space to run around in and keep fit for as long as possible. Many children are calmed by the movement of a car and will travel well.

 Seizures

Seizures are not especially common.   If they do occur, however, they should be managed in the same way as any other person having a seizure, but with some extra care because of the physical problems that may be present. For example, more care should be taken when moving their head and neck as they are placed on their side to prevent the inhalation of vomit. They should be left in that position until the seizure is over. The airway should be checked to make sure it is clear; nothing should be put in their mouth. Seizures can usually be managed with conventional anti-seizure medications.

 Feeding and Swallowing

In the early stages of the disorder, feeding usually causes few problems. As it progresses, however, the ability to chew food and swallow is gradually lost. Foods may need to be mashed or pureed to an appropriate consistency; it is advisable to avoid mixing ‘lumpy’ foods with food of a smooth texture; meat may be tolerated more easily if it is made by slow cooking rather than just chopped into small pieces. Many become quite picky and may reject foods for no clear reason.

 As the rhythm of swallowing is lost, spluttering and coughing whilst eating may become a problem. Moving your hand gently backward under their chin and slowly down the throat can help move the tongue and encourage swallowing. As the ability to swallow worsens, food or liquids may enter the lungs, which can result in recurrent pneumonia. During this time they may lose weight and take more time to be fed.

 It is often difficult for a family to consider alternate means of feeding, such as through a naso-gastric (N/G) tube or a gastrostomy (G) tube. Talking with your doctor can help with your decision making.

 Choking

When a person cannot chew and has difficulty swallowing, there is a risk of choking. Choking is frightening and reassurance can be provided by rubbing their back and holding their hands. If choking occurs, they should quickly be turned upside down or placed head-down over your knee, followed by three or four sharp pounds between the shoulders. If necessary, you may need to put your finger down their throat to try to dislodge the food item. Pounding on the back while they are sitting upright can make things worse because they might breathe in the food rather than coughing it out.  

 Choking can also occur with liquids, including secretions made by the body such as saliva. As swallowing becomes more difficult, drooling may become a problem and may require suctioning. Medication may sometimes be used to reduce the production of saliva and should be discussed with your doctor. If fever develops within a day or so of a choking episode, consult your doctor. It is possible that some food particles have entered the lungs and pneumonia may have developed.

 Vomiting

Vomiting can occur quite often, even in the absence of infection. An upset stomach may be caused by swallowing too much mucus, overeating or by swallowing air when feeding. The pressure of the enlarged liver and spleen may also make the stomach uncomfortable.

 Sleeping difficulties

Sleep is usually not a significant issue except for problems associated with breathing (see Breathing Problems, above). As the disorder progresses, getting to sleep or maintaining sleep may become a problem.  If this is the case, talk with your doctor to decide on the best management.

 Cold hands and feet

As the disorder progresses, the part of the brain that regulates temperature may become damaged and result in cold hands and feet. It may not cause discomfort but if it does the obvious remedies of heavy socks and warm gloves may be useful. In the later stages, sweating may become a problem at night, as well as cold hands and feet by day. Body temperature may sometimes drop (hypothermia): if this happens, they should be kept warm and medical advice sought on the best ways to manage the problem.

 Adapting the House

Mobility is likely to progressively worsen and dependence on parents and carers to meet everyday needs will likely increase in areas of incontinence, personal hygiene and nutrition. It is important to give early thought to how this can be managed when weight bearing, walking or climbing the stairs is no longer possible.

 Parents have found it helpful to designate a room or part of a room for their affected child. If possible, the area should be within hearing and visual distance and be made safe for the child to play without constant supervision, so the parent can interact with other children or deal with household tasks.

 Education

Some children may benefit from attending a mainstream school in their primary school years and enjoying the social interaction with peers; some will equally benefit from a Special Educational Needs placement with small class sizes and a range of communication systems in place. Many will need the help of a classroom assistant.

 Taking a break

Caring for someone with progressive disability is physically and emotionally tiring. Parents will need regular breaks so they can continue providing care without becoming exhausted; brothers and sisters also need to have their share of attention and to be taken on outings that may not be feasible with an affected child.

 Palliative care

Palliative care is any form of medical care or treatment that concentrates on reducing the severity of disease symptoms. The goal is to prevent and relieve suffering and to improve quality of life for people facing serious, complex illness and that of their family. This may include respite care, symptom management and bereavement support and may extend over a period of time. It is important to talk with your medical team to ensure you are aware of and have access to the various services and support networks that are available.

 Enjoying your child

A child with Hurler syndrome will have a life that is different from the majority of others, but they have delightful personalities and are extremely lovable. They will give you love that is totally unconditional; they will make you laugh when you think you may never laugh again. Their love is infectious to everyone around them. They communicate with you even when they lose their verbal skills. Their eyes will beguile you, their smiles will entice you and their spirit will raise yours when you think nothing else can.

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