Stefan Spies , patient 1, Karen Schipper , psychologist and PhD student 12, Frans Nollet , professor 3, Tineke A Abma , professor 2 1Reinaerde, Postbox 3364, 3502 GJ Utrecht, Netherlands 2VU Medical Centre, EMGO Institute, Department of Medical Humanities, Postbox 7057, 1007 MB Amsterdam, Netherlands 3Department of Rehabilitation, Academic Medical Centre, Postbox 22660, 1100 DD Amsterdam, Netherlands Correspondence to: K Schipper k.schipper{at}vumc.nl , Frans Nollet f.nollet{at}amc.nl Accepted 7 June 2010

I was diagnosed with Duchenne muscular dystrophy at the age of 3. My parents were always honest about my disease, but I didn’t really care much about it. As the progression was slow, I gradually began to understand its impact, including the physical restrictions. I’m now severely disabled and have lived much longer than the doctors expected. The loss of opportunities open to me, combined with the fact that I’m still alive, evokes many mixed feelings.

Moving to a residential home I moved into a residential home when I was about 20 years old. This wasn’t easy. I had to get used to being helped by a succession of professionals. Until then, my mother had been my only carer. The move was also difficult for my mum. She had to trust new, unknown, professional caregivers. It was hard for me, too, since I love my mum and I want her to be happy.

Constant adjustments I have to adjust repeatedly to changing reality. I used to play wheelchair hockey, but I’m not able to do that any more. I cannot go out without help. My ideas and preferences have also changed. Initially, for example, I resisted when the doctors said I needed artificial respiration during the night. I accepted this for night time, but didn’t want a cannula 24 hours a day. With a cannula I would be totally dependent on others. But when eventually I actually needed respiration 24 hours a day, I agreed. It scared me and at that moment I wished I was dead. It was an enormous step, but my feelings changed over the time. Still, it is hard, every time a new problem occurs. I need some time to get adjusted to the changes, and medical specialists sometimes go too fast. The operation of the cannula was planned three weeks after the decision, which gave me some time to adjust—but then I was asked to undergo it earlier. Medically that was probably a good decision, but for me it was too sudden. I was upset and thought about cancelling the operation. Afterwards I was happy with the change, but not knowing what’s going to happen is scary.

Fear and dependency For me, the fear and dependency is the worst. I am totally dependent on others and can’t do anything at all. Were something to go wrong with the cannula, I would be able to survive for only three minutes without artificial respiration, then I would die. An automatic alarm is set to go off in case of an emergency, or I can use the alarm system myself. It frightens me—does it work? Will the caregivers be in time? Sometimes, the plug for the alarm bell comes out for a little during the night. I can’t use it if this happens, since I’m not able to put it back, so I have to scream. I’m afraid there may come a time when they don’t hear me. Artificial respiration restricts me. I can’t go out alone, I need somebody to help me in an emergency and to drain off the mucus in my trachea. Some people with artificial respiration go outside without other people. They ask a passer-by in case of an emergency or if they need help. I don’t do that since I don’t want to be troublesome and I don’t want to take risks. I want somebody to go with me who knows how to respond properly if necessary. I do not want to be troublesome in my home. I try to remember the answers to my questions and ask for help if I have more questions. Sometimes I lie uncomfortable in bed for hours, because I don’t want to call for help. This is not satisfactory either.

Religion My religion really helps me. I’m not angry because of my disease but I’m disappointed if things go wrong. I realise that the Lord will support me always. Maybe not immediately, but later on. I realise that He was with me in these difficult moments. Of course, I wish I could recover, but that does not appear to be a possibility. People in church pray for me and for my recovery. I think it’s really sweet, but for me my disease also has a meaning. It’s not senseless, since I’m now able to show people how privileged they are. My body tells them that being healthy isn’t something to be taken for granted. I think we should realise that we are all vulnerable. People have to know that they could be disabled the next day without warning. My disease can motivate people to create a good life, to make them realise that life isn’t always easy.

Together but lonely I have many friends, and they and my family are important to me. Other people sometimes have problems with handling my disability. Because of this, they avoid talking with me and find it difficult to gauge my mood and situation. Often I don’t want to talk about my disease or express my feelings. I keep my fears, doubts, and questions to myself as I don’t want to make people feel sad. I want it to be cosy. Sometimes this sense of responsibility is tiresome. Then I can’t let it go, which leads to lying awake, thinking about it, at night, and makes me feel sad and angry.

Relations and sexuality I would like to have a wife, but then I also would long for children, and having children is impossible. I wouldn’t be able to handle situations like being unable to hold my child or for us to play together. I think my wife shouldn’t have to be responsible for the children and me, and to know that she would end her life alone, without me. That makes me sad. And because of this, I don’t want to marry. But I do have some sexual needs and I don’t know what my religion allows. If I watch a movie, I feel guilty and sad afterwards. My religion supports me, but during these moments it’s difficult. Also, it’s hard seeing friends and family getting married and having children, and realising that I will die without such things.

Empty days and dreams for the future My days are long and I’m at home most of the time. It’s boring. I watch some DVDs and I surf the internet. I read in the Bible and think about my life and what’s going on in the world. I would like to go to a day activity centre again. This is only possible with a wheelchair taxi and in company with a skilled person. Unfortunately that’s expensive. We’ve had some activities in the living room of our home, which was great. At the moment, the ground floor is being rebuilt to create a real day activity centre. I’m looking forward to visiting it and meeting other people.

The end of my life I try to enjoy life as much as possible, but for the last few years I have been thinking more and more about the fact that I’ll die early. It makes me sad. I have already lived longer than everybody expected when I was born. I’m scared about the future and about dying, so I try to focus on the nice things in the future. And even if it’s hard, you have to go on. Sometimes I wish it could be all over, but at such times I can always find a bright spot again. Helping hands along the way People who support me by asking how they can help me and by asking if I need or want help. Sometimes people have good intentions, but are clumsy in their actions

The support of my parents, family, and friends, and of my religion

My willpower and persistence and my ability to see the bright side of things again and again

Taking responsibility for my own behaviour and my relations with others. We have to care for each other

My wish to motivate other people and my drive to teach them something about life. This is the power of giving. By doing this, I can make sense of my illness A doctor’s perspective Duchenne muscular dystrophy is a progressive muscle disease affecting boys. The muscles degenerate as a result of defective dystrophin caused by mutations on the X chromosome. The typical course of the disease is delayed motor development that increases. Diagnosis is usually made at around preschool age. As muscle weakness progresses, walking becomes more difficult. Around the age of 12, the boys become wheelchair dependent. Later on, arm and hand functions decrease, and problems with swallowing and speech arise. Respiratory insufficiency in the late teens causes death unless mechanical ventilation is applied. Mechanical ventilation has become a routine part of treatment over recent decades. Boys with Duchenne muscular dystrophy are confronted with many medical issues as they grow up, such as possible cardiac involvement, the need for scoliosis surgery, side effects of corticosteroids like osteoporosis, and growth retardation. They become increasingly dependent on orthoses and wheelchairs, and on personal help. In childhood the parents are the most important caregivers. Stefan, a 27 year old man with the disease, has many worries and fears—about his end of life, about the possibility that his ventilator may become defective, and many other issues. He finds it difficult to adjust to changes. Not wanting to be a burden is a common attitude among young people who have always been dependent on others. This hinders the sharing of concerns with caregivers and intimates. They already have to help so much, so Stefan thinks he should not bother them with his troubles. Knowing that feelings are not easily voiced, explicit attention should be given so that people like Stefan have a trusted person they can talk with, preferably someone they are not dependent on. With prolonged life expectancy, children with Duchenne muscular dystrophy nowadays make the transition into adulthood and often move to specific housing where help is given by professional caregivers. Stefan makes clear that this is not an easy change. Although help is provided, professional caregivers have different routines and opinions, and are not as trusted as the mother. This complaint of differences in behaviour between caregivers is common. Caregivers should act more consistently to accord with the individual’s needs. This should be taught, learnt, and discussed openly with the patient. Stefan has said that he has a lot of pain; whether this is dealt with adequately is not clear. The problem of pain in Duchenne muscular dystrophy is underestimated by health professionals, and it is conceivable that Stefan will not raise the issue easily. The risk of treating children and young adults with Duchenne muscular dystrophy is that, with so many medical and rehabilitation issues to deal with in an ongoing chain of events, the person involved may easily be overlooked. Measures are applied by many health professionals, all intended to help (see box). Deciding what needs to be done should be based on guidelines. As the child changes into a young adult with his own opinions, needs, and concerns, health professionals need to change their attitude accordingly, from deciding for the child to listening to the patient and responding to his needs. Frans Nollet f.nollet{at}amc.nl What can medical professionals do? Give patients and their relatives enough time to adjust and to get used to the idea of impending changes

Give emotional and mental support. Doctors are often too busy with the medical aspects of the disease; they should pay more attention to the whole patient and his emotional wellbeing. Patients need somebody who really listens to them. Living with Duchenne means continuous adaptation and continuous regression—because of this, continuous emotional support is needed

Professionals try to find solutions for problems. The solution to a practical problem, like a new alarm system, is not the same as the solution for the underlying emotional difficulties. These emotions cannot be solved with technical or practical solutions, but they also need attention

Living with Duchenne evokes many existential questions. Those questions can’t be solved alone or with the help of daily caregivers. Psychosocial support is needed to deal with clients’ questions and emotions

Practical support should be attuned to individual needs and wishes

The whole family should have support, since Duchenne is difficult for all family members

Some patients and family members wrestle with feelings of responsibility. Professionals should be aware of this and should support patients and family members who express responsibilities felt for others

Notes Cite this as: BMJ 2010;341:c4364