Children with MPS II whose brain is affected may be overactive, strong, usually cheerful and affectionate but hard work to look after. They usually have limited powers of concentration and less understanding than you would expect for their age and physical development. They could, for example, lock the bathroom door but be unable to understand how to get out again, even when told. They enjoy rough and tumble play, making a lot of noise and throwing toys rather than playing with them. They may be unaware of danger, stubborn, and unresponsive to discipline as they cannot understand what is required. Some may have outbursts of aggressive behaviour. As the disorder progresses, they become hyperactive, restless and their behaviour is often very difficult to manage.
Initially, they may be able to learn although it will be more difficult for them than children without similar problems. Their rate of learning will slow: this may be apparent by about 18 months or it may occur 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). 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.
The behaviour problems are generally not altered by behavioural therapy. Medications can sometimes help but will usually require regular medical review to help maintain effectiveness. Some parents have tried to modify behaviour with the support of a psychologist, and a few have reported some limited success. However, behaviour will continue to change as the disorder progresses, and the usefulness of a particular behaviour modification technique may be short-lived.
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.
Restlessness at night is common, and many do not sleep for more than a couple of hours at a time. The reason for this is not known. Medications may sometimes help but it may take a period of trial and error to establish which drug works best. Drugs often lose their effect after a while. Some parents choose to ration the use of medications to a few nights a week or accept that after a few weeks it may have to be discontinued for a while.
The thought of the child getting up in the middle of the night and having an accident while the rest of the household is asleep worries many parents. Some find it helpful to put a lock on the outside of the child’s bedroom door, to replace the bedroom door with a Dutch door and lock the bottom section, to fit a stair gate in the doorway, or to place special pads under the carpet by the door which cause a bell to ring if the child leaves their room. Removing furniture and placing only a mattress on the floor helps prevent falls or injury during the night. Some parents find that special beds that help contain the child may be effective.
It is vital for parents to get sleep if they are to cope during the day. Some parents find they can achieve a longer period of unbroken sleep by putting the child to bed later and following a regular routine.
Seizures are not especially common in MPS II. 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 the 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.
As they become more out of touch with their environment, behaviours such as chewing fingers, clothes or other items may develop. Because there is little one can do to stop this, it is best to provide a wide range of safe items on which to chew, such as rubber toys, teething rings or soft cloths. If the problem is severe and they start to injure their fingers, the elbows may need to be splinted for periods of the day so the hands cannot reach the mouth.
In the early stages of the disorder, feeding usually causes few problems. As the disorder 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 reject a number of 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 require 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.
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 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.
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.
Whilst some children may benefit from having a mainstream education in their primary school years and enjoy 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. Behaviour problems may, however, limit or prevent school attendance.
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. 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.
The change from the overactive, noisy period to a quieter period is likely to be gradual. Families will realise that their child no longer runs everywhere and is happier sitting than standing; many will be easily pleased, perhaps by looking through the same little book of photographs, having stories read or watching the same video many times over; frequent dozing is not uncommon.
Weight will be lost gradually as muscles weaken, and chest infections may become more frequent. Many die peacefully after an infection or from the heart’s gradual failure. Family and friends may find it helpful to prepare for the time of death. It is not possible to say how long this ‘quiet’ period will last.
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 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.
These children 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.