On occasion of Muscular Dystrophy Day, I am sharing
an article published in British Medical Journal.
Photo Credit: Hans-Peter Maser (M.Sc.),
Basel, Switzerland
A Patient’s Journey. Duchenne muscular dystrophy.
Spies S, Schipper K, Nollet F, Abma TA.
BMJ 2010;341:c4364 (Published
7 September 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.
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
