DMD – A Guide for Parents
Most people reading this booklet for the first time will have just been told that their son (and very rarely daughter) or the child of a relative has the disorder called Duchenne muscular dystrophy. To be told that a child will lose the ability to walk, the ability to perform most tasks that we take for granted and have a life expectancy far shorter than normal is a distressing experience for all concerned. However, remember that you are not alone. Although there is increasing awareness of muscle problems in children, many people have not heard of muscular dystrophy. They may find it difficult to comprehend that such a serious disease has been diagnosed. Other parents may have an intimate knowledge of the disease because another family member has had it. Regardless, the diagnosis for them is none the less devastating. It can be difficult to understand how a diagnosis of muscular dystrophy has been made, especially when parents may not have even realised their child had a muscle problem.
To help parents better understand the diagnosis, the first section of this booklet provides an overview of Duchenne muscular dystrophy, its cause and how a diagnosis is reached. Subsequent sections offer more information on medical, genetic, educational, social and emotional and care issues.
Section 1: An Overview
Cause of Duchenne Muscular Dystrophy?
Diagnosing Duchenne Muscular Dystrophy
Research and Hope for a Cure
Section 2: Medical and Surgical Care
Section 3: General Care
Extra Care with Bones
Section 4: Emotional Support
Your Feelings and Ways to Deal with Them
Section 5: Everyday Living
Support Services and Aids
THE CAUSE OF MUSCULAR DYSTROPHY
Children with Duchenne muscular dystrophy develop weak muscles because the many muscle fibres present at birth are destroyed. Muscles in the body are made up of hundreds of thousands of individual muscle fibres. When these fibres contract (or shorten) they make our muscles work. If some of these muscle fibres are destroyed or are unable to perform their duties, the muscle will be weaker than normal.
Although Duchenne muscular dystrophy was first recognised over 100 years ago, little was known of its cause, except that it was inherited. Since the late 1980s there have been dramatic advances in our understanding of why the muscles in boys with this disease become weak. Advances came about when scientists discovered exactly which piece of genetic material is missing in Duchenne muscular dystrophy. They were then able to work out which protein in the body this genetic material usually makes. The protein, whose existence was previously unknown, was found and named dystrophin. Children who have Duchenne muscular dystrophy do not have the genetic material that gives the message to the body to make dystrophin and without dystrophin Duchenne muscular dystrophy occurs. Dystrophin is a large protein which is found on the inner side of the membrane surrounding each muscle fibre. It seems to be important in maintaining the shape and structure of the muscle fibre (just like joists, rafters and posts are important in keeping a house standing). If dystrophin is missing the muscle fibre breaks down (degenerates) and is unable to do its work properly. Normally, muscle fibres are able to be replaced by a process called regeneration.
During the first few years of life, muscle fibres that break down in children with Duchenne muscular dystrophy are continually being replaced. Unfortunately, the body has only a limited capacity to continue replacing muscle fibres. Eventually the rate of regeneration cannot keep up with the rate of degeneration. As a result, there is a reduction in the number of good muscle fibres and the whole muscle becomes weaker. In summary, Duchenne muscular dystrophy is caused when a piece of genetic material is missing. As a result the body fails to make the protein dystrophin. Without dystrophin muscle fibres breakdown and eventually the body’s ability to replace these damaged fibres is exceeded. The child becomes weak because they do not have enough strong muscle fibres.
DIAGNOSING DUCHENNE MUSCULAR DYSTROPHY
Duchenne muscular dystrophy is the most common serious muscle disorder in children and occurs in approximately one in every five thousand boys (and very rarely girls) born. Although Duchenne muscular dystrophy is an inherited disease and present from the initial stages of fetal development, there is no physical indication at birth that the baby is anything less than perfectly formed.
It is rare for any delay in development to be noticed in the first year of life. Problems are usually not evident until eighteen months to four years of age. On average a diagnosis is not made until the child is five, although with increasing awareness of the problem, some children are diagnosed earlier. At least half of affected boys do not walk until eighteen months of age or later. In retrospect, almost all parents have noted that their child never walked or ran normally. Over the first few years of life these children have difficulty climbing and getting up from the floor. Parents often comment that their child falls frequently. Walking up on the toes (toe-walking) is common. The children are not able to keep up with their friends in physical activities at kindergarten or school and they are often regarded as clumsy or lazy. Some parents notice that their child has large calf muscles. This enlargement is called “pseudohypertrophy” and is due mainly to an increase in fatty tissue in the muscle. Pseudohypertrophy is a sign of muscle disease rather than an indication of good strength. Indeed Duchenne muscular dystrophy used to be called ‘pseudohypertrophic muscular dystrophy’. There are some children with Duchenne muscular dystrophy who have problems with delay in mental or language development. As a result the physical movement problems may be relatively less obvious in the early stages.
Some families seek medical advice because they recognise that their child has a problem. For others the problem has only come to light as a result of a school medical examination or because teachers noticed that the child does not run or perform physical activities as well as most of the other children in his class. Other children may have been sent for medical assessment because of delay in development, late walking or poor language development. On the surface, many of the early problems may seem to be far removed from a serious muscle disease.
Many parents will have taken their child to a doctor (or even several doctors) with a concern about one of these problems only to be told that the child will “grow out of it”. This is not too surprising as the signs of muscular dystrophy can be exceedingly difficult to detect in the early stages and many other conditions can produce similar symptoms. Because of this, doctors are now being taught to do a blood test (CK or creatinekinase test) on young boys with these symptoms, even if they do not find anything when they examine the child. If the CK blood test result is very high, a muscle problem is likely to be present. Referral to a specialist for further examination and other tests is required.
A family doctor or specialist may recognise signs of Duchenne muscular dystrophy when the child is first examined. However since this disease is so serious, its diagnosis must be confirmed by tests.
Creatinekinase (CK) test
CK is an enzyme (protein) that is important for energy production within muscle fibres. If a muscle fibre is damaged by a disease process such as muscular dystrophy, some of the CK leaks out into the blood. Normally there is only a small amount in the blood but in Duchenne muscular dystrophy there may be 10 to 100 times the normal amount. There are very few other disease processes which cause such a high level of CK in the blood.
When muscles contract (shorten) there is electricity flowing through the muscle tissue. An abnormal muscle has an abnormal pattern of electricity that can be recognised and recorded using special equipment. An EMG test involves putting a small needle through the skin into a muscle and recording the pattern of electricity in the muscle when it is contracting.
Muscle from patients with muscular dystrophy looks different from normal muscle, when seen under a microscope. The small piece of muscle that is removed during the biopsy is cut into very thin slices, stained with a series of special dyes to show the different types of muscle fibres and studied by a pathologist.
Some parents will have been told of the suspicion of the diagnosis of Duchenne muscular dystrophy before any tests have been done. Others will not have been told until either the CK or muscle biopsy (or both) test results are available. Whether parents are told the diagnosis before or after tests have been done depends on many factors and there is no right or wrong way. Most doctors would not wish to tell parents about the possibility of muscular dystrophy until they have a high degree of certainty that they are correct.
Often a doctor will delay disclosing the diagnosis until it is possible for both parents to be present. Although this approach sometimes leads to prolonging anxiety and causing frustration, the information is too serious to convey to one parent alone unless there is no alternative.
Becker Muscular Dystrophy
There are many forms of muscular dystrophy; however the one most closely resembling the Duchenne form is called Becker muscular dystrophy. This very close resemblance is due to the fact that the genetic abnormality causing Becker muscular dystrophy is also found in the dystrophin gene on the X chromosome. (More information on the genetic aspects of Duchenne muscular dystrophy is contained in the following section titled, Genetic Counselling).
In many patients with Becker muscular dystrophy, a deletion of part of the gene can be found. However, patients with these two forms of muscular dystrophy differ. This difference is due to the way the types of deletions in the two forms affect the production of dystrophin. The type of deletion present in patients with Duchenne muscular dystrophy is such that almost no dystrophin is produced. On the other hand, patients with Becker dystrophy have a deletion in the genetic material that still allows a small amount of dystrophin to be produced. This allows the muscles to function better than those of a Duchenne patient. Patients with Becker muscular dystrophy have almost all of the problems associated with Duchenne muscular dystrophy except that the disease is usually later in its onset and the disease progresses more slowly. Indeed the diagnosis may not be made until late in the first decade or in some cases, the second or third decades. It is much more difficult to predict the long term future of a child with Becker dystrophy because some will require a wheelchair in the late teenage years while others will be walking, albeit with difficulty, into their forties or fifties.
A diagnosis of Duchenne muscular dystrophy can be so highly distressing that it is easy to subconsciously decide to put genetic issues aside for consideration some time later. Parents are fully occupied in coming to terms with the diagnosis and meeting the demands of everyday life. However the genetic aspects are important in making decisions about having more children. Because of the way in which Duchenne muscular dystrophy is inherited, all family members must have a clear understanding of the issues involved.
This section endeavours to explain the genetics of Duchenne muscular dystrophy. If after reading it and speaking with your medical adviser you are still confused, please seek to clarify what you do not understand. Doctors know they may need to go over complicated information several times. The consequences of not grasping the facts are too serious not to attempt complete understanding. In addition to a verbal explanation of your genetic situation, it is the policy of many counsellors to confirm the contents of a counselling consultation in writing.
The Genetic Background to Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is described as a sex-linked (or X-linked) recessive inherited disease. What does this mean? To understand this some elementary knowledge of biology is required.
Genes and Chromosomes
Every tissue in the body is made up of cells. Muscle tissue is made up of thousands of muscle cells (or muscle fibres). Each cell has genetic material that determines how that cell (and hence our body) functions. The basic units of genetic material which are responsible for heredity or inheritance are called genes. Individual genes cannot be seen even with the most powerful microscope. Genes are organised into larger structures called chromosomes which can be seen with the use of a microscope. All cells in the body (except egg and sperm cells) have 46 chromosomes; each chromosome being built from thousands of genes. The genes are lined up in a certain order like beads on a string.
The forty-six chromosomes in each cell are arranged in pairs. In each pair one chromosome comes from the mother and the other comes from the father. Forty-four of these chromosomes occur as twenty-two similar pairs. The two remaining chromosomes have the extremely important role of determining our sex. X and Y are arbitrary names given to these sex determining chromosomes. Females have two X chromosomes while in males the two chromosomes are an X chromosome and a Y chromosome. Hence the chromosome makeup of a female is designated as XX and that of a male as XY.
How sex is determined
The egg and sperm cells responsible for creating new life are unlike all other cells. Each sperm and egg cell contains only twenty-three chromosomes. When the egg and sperm join together at fertilisation, the first cell of the future child is created. This new cell has a total of forty-six chromosomes (twenty- three pairs).
The egg cell (from the mother) always contains an X chromosome, but the sperm cell (from the father) may contain either an X or a Y. If the father’s sperm containing an X chromosome fertilises the egg the resulting embryo will have an XX combination which will produce a girl. If the sperm has a Y chromosome, after fertilisation there will be an XY combination.
This combination will produce a boy. A boy can only get his one X chromosome from his mother, never his father.
Why do mostly boys develop Duchenne muscular dystrophy?
The X chromosome is quite large and contains many genes which perform important functions that have nothing to do with sex determination. One of the genes on the X chromosome causes cells to manufacture the protein called dystrophin which is needed to maintain healthy muscles. This gene is now called the dystrophin gene and Duchenne muscular dystrophy is caused by abnormalities of the dystrophin gene.
The dystrophin gene is part of the X chromosome. It is not contained on Y chromosomes. A boy has only one X chromosome in every cell of the body including his muscle cells. If there is an abnormality of the dystrophin gene, either because part of the gene is missing or because it functions abnormally, dystrophin will not be produced in adequate quantities and he will develop Duchenne muscular dystrophy. If part of the gene is missing this is called a deletion. If the same problem occurs in a female the result is not nearly as serious because there is a second X chromosome with a normal dystrophin gene to control the production of dystrophin.
A female who has the defective dystrophin gene is called a carrier. If a carrier mother passed her X chromosome with the defective dystrophin gene onto a daughter, the daughter would not develop Duchenne muscular dystrophy because she would have received an X chromosome with a normal dystrophin gene from her father. In this case the normal gene overcomes the potentially harmful effects of the abnormal gene. This daughter however would also be a carrier (see below for risks of daughters being carriers).
A son may develop Duchenne muscular dystrophy if he inherits an X chromosome with a defective dystrophin gene from his carrier mother. The process whereby a carrier mother may have an affected son but has daughters who are not affected (even though they may themselves be carriers) is called X- linked or sex-linked recessive inheritance.
Sometimes the gene defect has not been present in any previous member of the family, not even in the mother. The defect in the dystrophin gene has arisen because of an error in the copying of this particular gene during the formation of the X chromosome which went into the egg cell from which the boy was formed. This is called a mutation. Many other diseases are also caused by genetic mutations. It is thought that we all carry mutations of some of our genes but serious effects are prevented by a normal gene being present on the second of a pair of chromosomes.
Rarely there are children with a disability similar to that seen in Duchenne muscular dystrophy, however the disease is not Duchenne muscular dystrophy and there are quite different genetic implications. When a boy is diagnosed as having Duchenne muscular dystrophy, it is important to determine whether the mother is a carrier. If the mother is a carrier there is a risk that she could have another affected boy in a future pregnancy. It also raises the possibility that the mother’s daughters, sisters or other female relatives could also carry the defective gene.
It may be obvious that a woman is a carrier because of her family history. For instance, a woman who has a brother and a son with Duchenne muscular dystrophy must be a carrier. However, when a woman has just one boy with Duchenne muscular dystrophy and there is no family history of the disease, it can be very difficult to determine whether she is a carrier without sophisticated laboratory testing. There are several methods of determining whether a female is a carrier of the Duchenne muscular dystrophy gene.
Creatine kinase (CK) test
CK is an enzyme (protein) that is important for energy production in muscle fibres. If a fibre is damaged by a disease process such as muscular dystrophy, some of the CK leaks out into the blood. Normally there is a small amount in the blood but in Duchenne muscular dystrophy there may be 10 to 100 times the normal amount. This excessive amount of CK in the blood does not cause any extra damage but it does give us a way of detecting muscle problems. Because carrier females have some muscle fibres that have degenerated, there may be a slightly greater amount of CK leaking out of muscle into the blood and this can be detected by doing a CK blood test.
Because the amount of CK in carriers may be only slightly more than normal, and because things such as exercise may increase the amount of CK in the blood in people who are not muscular dystrophy carriers, the test is usually done on three separate occasions with restriction of physical activity prior to the blood being taken. If the mother or sister of an affected boy, or a female relative (on the mother’s side), has consistently abnormal CK tests she would be regarded as a carrier. Unfortunately the CK test is positive in only about 60-70 per cent of known carriers and hence if a female has normal CK tests this does not prove that she is not a carrier.
Laboratory testing to examine the structure and inheritance of genes is called DNA testing because genes and chromosomes are made from the chemical molecule called deoxyribonucleic acid (DNA). In the case of Duchenne muscular dystrophy, DNA testing specifically looks for abnormalities in the structure of the dystrophin gene of the X chromosome. Testing can be done on a blood sample.
At the present time laboratory tests can detect a deletion (piece of DNA missing) in the region of the dystrophin gene in about 70 per cent of children with Duchenne muscular dystrophy. The Duchenne muscular dystrophy gene is very large and small deletions may occur in many different areas of the gene. The ideal solution would be to identify, if possible, the deletion in the affected boy and then try to identify a deletion in the same area of any female relatives who seek information about their carrier status. Unfortunately, identifying a deletion in a female is difficult at present and the results are not reliable enough for routine use.
One major advantage of the DNA tests is that they can be used to determine whether a male fetus is affected in the very early weeks of pregnancy. If a deletion is not detected in the affected boy there are still some other ways to use knowledge of the Duchenne muscular dystrophy gene and its relationship to nearby neighbours on the X chromosome to determine if a female is likely to be a carrier or if a male fetus is affected. Inheritance of the Duchenne muscular dystrophy gene can sometimes be deduced by knowing the pattern of inheritance of the neighbouring genes. This type of testing called linkage analysis is more cumbersome and less accurate than if a deletion can be detected, and may not be possible in all instances However, it is still sometimes useful to have this type of testing to fall back on if a deletion cannot be detected.
Electrical tests of muscle function (EMG), measurement of the level of certain enzymes other than CK and muscle biopsy have been a few of the methods sometimes used to detect carriers. These methods would be used only rarely now.
Possible Outcomes if a Female is a Carrier
If a female is a carrier of the Duchenne muscular dystrophy gene she has a one in four chance of having a child with Duchenne muscular dystrophy. How does this come about? The genetic material (DNA) of both parents combine in such a way that a child receives half the number of his or her chromosomes from the mother and half from the father. This is how we inherit various characteristics from our parents.
If a mother is a carrier of Duchenne muscular dystrophy, one of her two X chromosomes will carry an abnormal dystrophin gene. Hence there is a 1 in 2 (1/2, 50 per cent) chance that she will pass the chromosome with the abnormal gene onto a child, and a 1 in 2 chance that the child will receive the normal chromosome (with a normal dystrophin gene). Similarly, there is a 1 in 2 chance that the child will receive the father’s X chromosome and a 1 in 2 chance that the father’s Y chromosome will be inherited. When the sex chromosomes (X and Y) from parents combine there can be four different outcomes, with equal likelihood, as follows:
- An egg containing a healthy X chromosome can pair with a sperm containing an X chromosome and produce a healthy girl.
- An egg containing a healthy X chromosome can pair with the Y chromosome of a sperm and produce a healthy boy.
- An egg containing the defective X chromosome can pair with a sperm containing a normal X chromosome to produce a girl who is a carrier. She carries the defective X chromosome but her normal X chromosome prevents her from developing muscular dystrophy.
- An egg containing the defective X chromosome can pair with a sperm containing a Y chromosome to produce a boy who has Duchenne muscular dystrophy. Y chromosomes do not have the dystrophin gene and hence there is no normal dystrophin gene to control the body’s production of dystrophin.
Of the four possible outcomes, only one will produce a child with Duchenne muscular dystrophy. Thus, if a female is a carrier of the Duchenne muscular dystrophy gene there is a 1 in 4 chance of giving birth to a child with Duchenne muscular dystrophy.
What does a Risk Factor mean?
It was shown in the above section that if a woman is a carrier she has a 1 in 4 (25 per cent) chance or risk of having a child with muscular dystrophy. This risk figure applies to each pregnancy that she has irrespective of whether any previous children have muscular dystrophy or not. Some carriers are fortunate and have several children without the disorder, while others have several boys in a row who all have Duchenne muscular dystrophy. This is like flipping a coin or rolling a dice.
Some families in whom it cannot be determined for certain whether or not a female is a carrier will be given an estimate of their risk of having a boy with muscular dystrophy. This might be, for instance, 1 in 10 (10 per cent) based on blood test results and knowledge of the family tree. A risk of 1 in 10 means that if 10 couples are told that they will not have a child with muscular dystrophy, this information will, on average, be wrong for one of the couples and they will have an affected child. The problem is that it is not possible to tell which one of the couples will have the affected child. Risk figures mean different things to different people. Most people would regard a risk of 1 in 10 of having a boy with muscular dystrophy as fairly high, particularly if they have had personal contact with somebody with the condition. A risk of 1 in 100 would usually be considered reasonably low particularly as a couple faces a risk higher than this of having a child with other serious birth defects.
It is important to be clear about whether a risk figure is referring to a female being a carrier or to the risk of an affected child being born. A 1 in 10 risk of being a carrier means a 1 in 40 risk of having an affected child because if the person does turn out to be a carrier she still has only a 1 in 4 chance of a child being affected.
Couples need to consider their situation realistically. Doctors can give them the best available information on their risk of having an affected child but it is up to the couple to interpret those risks into their own network of knowledge, concerns and desires.
Who should be tested for Carrier Status?
It is thought that in about one third of boys with Duchenne muscular dystrophy the condition has arisen in the boy by a genetic mutation (see above) and his mother is not a carrier. For the remaining two thirds, the mother and therefore possibly other female members of her family may be carriers. When a child is diagnosed as having Duchenne muscular dystrophy all females on the mother’s side should be considered at risk of being carriers although some will have a much higher risk than others.
Whether carrier detection studies are initiated depends on many factors. For instance, if the affected child has no sisters and his mother has no sisters, and the parents are not considering having more children, there is little practical value in knowing if the mother can be identified as a carrier. The obvious situations in which women wish to know about carrier status are where:
- A mother has one son with Duchenne muscular dystrophy and she would like to have another child.
- The sister of a mother with an affected boy wants to start a family.
- The sister of a boy with Duchenne muscular dystrophy wishes to have a child.
The Options For Carriers
Having established that a woman is a carrier these are the options couples face.
- They can decide not to have any more children.
- They can decide to have a child but elect to terminate the pregnancy if the fetus is shown to have a defective dystrophin gene. Analysing the DNA material of the fetus, to see if there is an abnormal dystrophin gene, can be done in two ways. The commonest is by taking a small sample of tissue from the placenta (chorion) and is called chorionic villus sampling. It is done at about 10 weeks into the pregnancy. The other test, amniocentesis, involves taking a specimen of fluid that surrounds the developing baby at about 16 weeks. Ammocentesis is performed less frequently now that chorionic villus sampling is available.
- Parents can decide to accept the risks and accept the outcome.
For many women who are at risk of carrying the gene for Duchenne muscular dystrophy it is possible to tell whether or not they are carriers. For the others it is possible to give a risk figure for being a carrier. Doctors can provide the available facts but it is up to the people affected to interpret the information and use it as they see fit. It is vital for all family members at risk to seek information before planning a pregnancy or as early as possible in any unplanned pregnancy.
MEDICAL RESEARCH AND THE HOPE FOR A CURE
In recent years our knowledge of the cause of muscular dystrophy has led to a major research effort to find a cure. In this section the current position is discussed but it is inevitable that in the near future the level of understanding will improve and what seems the latest information today will become “old information”. For this reason, it is important for you to seek up-to-date information from your medical adviser. Research for a cure for muscular dystrophy is going on throughout the world. The Muscular Dystrophy Australia of America allocates millions of dollars each year to research into muscle diseases. The scientists they support, along with many others throughout the world, share their research findings to achieve one common goal – an effective treatment and eventually cure for muscular dystrophy.
The amount of money available for research in Australia is not large by world standards but important research work is going on in several centres across the country. The results give cause for optimism in the search for an effective treatment for Duchenne muscular dystrophy. The most promising results have recently come from experiments with mice which have various forms of muscular dystrophy. One type of treatment being studied is called myoblast transfer therapy. Myoblasts are immature muscle cells. When muscles are diseased or injured, repair (regeneration) begins with small cells in the muscle, called satellite cells. These change into myoblasts, which ultimately join together to form ordinary muscle cells. It is possible to remove a small piece of muscle from a healthy individual and grow these myoblasts in a laboratory.
Myoblasts from healthy animals have been injected into the muscles of mice with muscular dystrophy and there has been very significant recovery of muscle function. This was because the myoblasts from the healthy animal joined with the myoblasts from the dystrophic animal to produce mature muscle cells that were part normal and part abnormal. In an earlier chapter it was noted that muscular dystrophy results when dystrophin is missing from muscles. In the mice, recovery occurred because the injected normal myoblasts brought with them the normal genetic message to allow production of dystrophin and this resulted in the formation of muscles containing some dystrophin.
These experiments show that dystrophin can be replaced in muscle, the ultimate aim in the treatment of Duchenne muscular dystrophy. The next step was to see if these same results could be achieved with humans. Human trials are currently under way, but at the time of writing it is too early to know whether myoblast transfer therapy will be useful. There are many practical problems facing researchers trying to develop this form of therapy. For instance, they must work out ways to grow enough myoblasts in the laboratory to enable injection of all important muscles. If successful, myoblast transfer therapy will be applicable not only to Duchenne muscular dystrophy, but also to other conditions in which a genetic defect leads to muscle weakness. No attempts have been made to apply myoblast transfer to other forms of muscle, such as the heart.
At present, only limb muscle is potentially treatable. Application of this technique to heart muscle will have to wait until results from extensive research are available. Myoblast transfer therapy is still highly experimental. Scientists working in this field cannot guarantee that what has worked on mice will work on humans. However, they are genuinely optimistic, and feel they have moved from a situation where they could offer no hope of a cure, to a situation where there is definitely some hope. It is impossible to predict how, when and if these research challenges will be overcome. Some research workers feel that myoblast transfer therapy may not be the answer and many are looking for other possible treatments. Medical scientists work with the hope that a young child diagnosed with Duchenne muscular dystrophy today will, in the not too distant future, be offered an effective treatment that will prolong life and greatly improve the quality of life.
DMD – A Guide for Parents
Medical and Surgical Care
Currently, there is no cure for muscular dystrophy. However scientists all over the world are involved in research to find a timely treatment and eventually a cure. Some recent developments are looking positive and are explained in the section titled Research and Hope for a Cure. However, the current lack of a cure does not mean nothing can be done. It is often stated that Duchenne muscular dystrophy is “incurable but not untreatable”. There are a number of options to help maintain the muscles, bones and joints in the best possible condition. Emotional, social, educational and vocational needs of people with muscular dystrophy can also be met. Their abilities can be nurtured and they can live a rewarding life.
There are no hard and fast rules as to how a child with Duchenne muscular dystrophy should be cared for. Parents may find approaches vary from state to state or even from one professional to another in the same city. An individualised approach is required in order to take into account the age of the child, the severity of his problem at the time, the home and school environment, the expectations and values of the parents and the availability of appropriate services, among other considerations.
There are many professionals available to offer help depending on the needs at the time. These include physicians, orthopaedic surgeons,(bone specialists), physiotherapists, orthotists (specialists who make or provide the various pieces of equipment to maintain posture and mobility), occupational therapists, dietitians, nurses, social workers, psychologists, teachers, religious advisers, staff from Muscular Dystrophy Australia, parents and other persons with muscular dystrophy.
Most children with Duchenne muscular dystrophy have the diagnosis made or confirmed at the Royal Children’s Hospital (RCH). Therefore many services are available at RCH or are arranged by staff at the hospital with other organisations that provide services for people with disabilities, such as Muscular Dystrophy Australia.
With many people to help, sometimes parents receive conflicting advice, or they may not understand why they are being told to do something. Alternatively, parents may feel that their needs are not being addressed. If this happens, it is important to ask questions of the professionals involved as usually the problem can be resolved with further discussion.
Physiotherapy involves a program of stretching exercises to maintain muscle length and the flexibility of joints. Physiotherapists also work with orthotists, who make or provide various pieces of equipment to maintain posture and mobility. Night splints, callipers, swivel walkers and braces are some of the aids used. Physiotherapists are the main people involved in showing parents the exercises and in making sure that any mobility aids are comfortable.
At the time of diagnosis or shortly after, children with Duchenne muscular dystrophy have a tightening or shortening of the tendo Achilles (heel cord). One of the first tasks of the physiotherapist is to show parents how to stretch the heel cords. It is best if this can be done by the parents at home several times per day. These daily exercises will be maintained over years and it can be difficult to make sure they are always completed. Parents should not feel guilty if occasionally they have to miss a stretching exercise. Sometimes a night splint is also prescribed. This is a polypropylene (plastic) splint that fits over the foot and behind the ankle and calf. It keeps the foot at 90 degrees to the leg and as a result the heel cord is kept stretched rather than shortened during the night. Some boys find the night splints are too uncomfortable and sometimes their use has to be discontinued. It is important for parents not to blame their child or to feel guilty themselves if the night splints are not tolerated.
As muscle weakness increases and various tendons become tighter the physiotherapist will increase his or her involvement with stretching exercises and sometimes the fitting of splints or braces to maintain the ability to walk. At the appropriate time, the physiotherapist will be involved in obtaining the correct wheelchair and in helping to solve many seating and other problems that arise. Keeping the patient sitting upright as much as possible to minimise the development of scoliosis (curvature of the spine) is important.
Sometimes children with Duchenne muscular dystrophy require operations to correct contractures (joints out of alignment) and scoliosis (curvature of the spine). They are not used in every case and are only offered after careful assessment of all medical considerations. These operations are done by orthopaedic surgeons.
Because weakness does not equally affect all muscles that move a joint, some joints can be pulled out of alignment. If this persists for long enough it will not be possible to get the joint back into its correct position. This is called a contracture. The ankles, knees and hips are places where contractures occur early and in the later stages joints in the arms are also affected.
Toe walking (walking on “tip toes” or the ball of the foot) is due to tightening of the Achilles tendon at the back of the ankle. This tightening (equinus deformity) prevents the heel striking the ground properly. Particularly in the wheelchair stage, other muscles around the ankle also become tight. If measures are not taken to minimise this tightening, the front of the foot may not only point down but the whole foot may start to turn under so that the outer side of the foot rests on the foot plate of the wheelchair (equino-varus deformity).
As mentioned previously, the use of physiotherapy and plastic splints can help slow down the development of these conditions. If toe walking proves to be a problem, or if in the wheelchair phase the deformity causes problems or is cosmetically unacceptable, an operation can be performed to correct the malalignment. This operation is called elongation of the tendo-Achilles (ETA). Under some circumstances, a tendon may be transferred from the back of the ankle to the front at the time that the ETA is being performed, to help pull the front of the foot up. This is called a tibialis posterior transfer operation. The feet need to be in a plaster cast for approximately three weeks after an ETA and longer after the transfer operation. Hence the procedure is usually reserved for patients who cannot walk.
A major problem during the wheelchair phase may be the development of scoliosis (curvature of the spine). The muscles on either side of the spine help to keep the bones of the spine in the correct position. If the muscles are weakened, no matter what the cause, the bones will drift out of alignment, usually sideways but also with some rotation. Parents may notice that there is more of a “hump” on one side of the back of the chest than the other. This is due to a rotation of the bones of the spine and results in the ribs being more prominent on one side. If parents notice any evidence of scoliosis they should report it to the physiotherapist or doctor.
Although scoliosis does not always develop, once a significant spinal curvature has occurred it is likely to get worse over the years and will require treatment. If untreated, spinal curvature can cause discomfort, reduce breathing capacity, interfere with the use of the arms and cause difficulty for caregivers during activities such as dressing. Sitting in a wheelchair can become more uncomfortable. There can also be significant psychological effects on self-image.
Attempts to stop increasing curvature by various body jackets and bracing devices have not been successful. It is now felt that once this problem has developed the only reliable way to prevent deterioration is to operate to straighten the spine and fuse the bones together by bone grafts. The spine is kept straight with various rods and wires attached to the bones while waiting for them to fuse solidly together. The rods do not need to be removed. It is usually performed at 13 or 14 years of age. Although the operation is a major one, most boys have tolerated it well and have benefited physically and psychologically from having it done.
Tightening of muscles and fibrous tissue at the front of the hips and around the knees occurs as mobility decreases. This tightening increases in severity once the wheelchair stage is reached. Similar tightening develops in the arms at a later stage than in the legs. Operations are not needed in the arms or hands but sometimes they are required at the hips. Occasionally operations other than those mentioned above are necessary. It should be remembered that not all children with Duchenne muscular dystrophy require all, or sometimes even any, of these operations.
Both physiotherapy and hydrotherapy contribute significantly to good respiratory function. Children with Duchenne muscular dystrophy are no more susceptible to infection than others and in the early years there is no need for anything other than “routine” treatment of coughs and colds. Later on, however, particularly in the wheelchair stage, the chest muscles will be weaker than usual and it will be more difficult to cough up secretions that accumulate in the breathing passages. This leads to what is called collapse and consolidation of the lungs. Therefore, should a head cold or an upper chest infection develop, early use of antibiotics and particularly chest physiotherapy is usually recommended to help prevent more serious complications. Sometimes hospitalisation is required for more intensive therapy than can be given at home.
As the chest muscles become weaker, the lungs are unable to take in as much oxygen and get rid of as much carbon dioxide from the blood as usual. Sometimes a build-up of carbon dioxide in the blood during the night causes daytime drowsiness, headache and lethargy, particularly in the mornings.
The lifespan of people with Duchenne muscular dystrophy is determined largely by the strength of the chest muscles needed for breathing and coughing. In recent years, advances in the ability to provide mechanical assistance for breathing have meant that options for relieving some of the symptoms of breathing failure in the late stages of the disease have increased. The options range from using a mask over the nose at night to full mechanical ventilation during the day via a tracheostomy tube (a tube in the windpipe). Whether any of these techniques are used depends very much on the personal views of the affected person and their family. A detailed discussion of the pros and cons and the problems involved in assisted ventilation is beyond the scope of this booklet.
The heart is a specialised muscle and while it is not as severely affected as muscles in the arms and legs, nevertheless some abnormalities do occur. Fortunately these do not usually cause serious problems. However, sometimes in the late teenage years and beyond, there can be problems if the heart muscle becomes weak and is not effectively pumping blood to other parts of the body. Increasing lethargy or tiredness, swelling of the ankles or shortness of breath, particularly at night, may be signs of a heart abnormality and medical advice should be sought. Treatment with medications can usually relieve these symptoms.
If there are symptoms and signs of a heart failure, these can usually be relieved by drugs that are commonly used to treat older people with heart failure from other causes. Tablets to decrease body fluid (diuretics) and to stimulate heart muscle (usually digoxin) are used. Occasionally other drugs are used to treat abnormalities in heart rhythm.
When bones are not subjected to the normal stresses of everyday living (such as occurs during walking, running and jumping), they lose calcium and become soft or brittle. Soft bones fracture more easily than normal bones. This is not often a problem until well into the wheelchair phase, when accidents such as falling from the chair or during transfers to or from the chair may cause a fracture. Sometimes it is not obvious that a fracture has occurred, until an X-ray is taken because of persisting pain or increasing swelling.
If most of the weight of the body is put onto one buttock for long periods while sitting in a wheelchair there may be discomfort in that area or even sciatica (pain down
the back of the leg) if there is pressure on the sciatic nerve.
Good diet and a regular bowel routine are essential and these habits can be established early in a child’s life. It is important the person with muscular dystrophy avoids becoming constipated, particularly as his ability to move around decreases. Constipation may lead to abdominal discomfort and pain and may also result in what appears to be diarrhoea. This paradoxically occurs when liquid bowel material flows around the accumulated hard faecal material.
If constipation does become a problem, regular enemas or bowel washouts may be required. If a boy attends a school for the physically disabled it is usually possible to arrange for these treatments to be given at school. Usually, an oral medication is also started. When the bowel is emptied the enemas can be stopped and control maintained with the oral medication.
During sleep most people toss and turn without realising. When weakness is moderate to severe, it is not possible for children with Duchenne muscular dystrophy to turn or move in order to make themselves comfortable. Parents often have to help the children move or turn so that they can get back to sleep. This is difficult for parents as they too need to have good sleep. Medical attendants or therapists will be able to offer advice about various mattresses that can sometimes help.
It has been the experience of many parents that “water beds” significantly assist the comfort levels of children affected by muscular dystrophy. In many instances the number of night turns has been reduced from six to eight times per night down to one or two per night. It should be noted that “bladder” type water beds have been found to be generally not suitable. The preferred type is the “waveless” baffled bladder, offering the highest degree of comfort and stability during dressing and undressing.
As weakness increases and mobility decreases, particularly when a person is limited to a wheelchair, energy requirements are less and as a result less food is required. Therefore it is important to monitor food intake. The problems caused by excessive weight gain cannot be over emphasised. Not only is obesity bad for the health of the child, it also increases difficulties for caregivers who are required to assist with everyday activities such as dressing, bathing and toileting.
Dietitians are able to offer advice on the level of food intake required and on the appropriate balance of the various components of the diet. Good dietary advice plays an important role for an older person with Duchenne muscular dystrophy, but the basis for good care lies in the appropriate attitude of parents to diet in the early stages of the disease.
DMD – A Guide for Parents
“I felt I was in a state of total shock at the time. I had never heard of muscular dystrophy before. I also felt a lot of guilt because I thought it must have been my fault.”
This is a typical initial reaction of a parent who has just been told that their child has Duchenne muscular dystrophy. It is possible in time to move beyond this emotional state to one of coping in a very positive manner with everyday living. A booklet printed by Muscular Dystrophy Australia called “Learning To Live With Neuromuscular Disease: A Message for Parents” by Sylvia E. McGriff, addresses this subject. A copy of the booklet can be obtained from Muscular Dystrophy Australia.
Your Feelings and Ways to Deal with Them
Firstly, people react to this diagnosis differently. Each has his or her own strengths, resources, networks and ways of coping. Some may take weeks or months to adjust to the diagnosis, hoping the terrible prognosis will go away. Others understandably react with shock, anger and sadness. They may be angry with the doctor who gave them the diagnosis, angry with their general practitioner for not making the diagnosis earlier, angry with their spouse or with themselves. It may take some time before a family develops its own way of living with a family member who has muscular dystrophy and is able to deal with the issues this brings. The process of coping is continuous and will vary over time in response to the changes and needs of the situation. There will be highs and lows and as long as the way used to cope by the family is not self-destructive and does not hurt anyone, then it is appropriate and should be respected. There is no right or wrong way and each family will find what works for them. Drawing on their own resources and the support and experience of others can be as useful as are other methods which will be discussed.
If people can face these feelings with courage, they can reduce their stress and anxiety and move towards coping positively and creatively.
Seeing yourself coping, in your own mind’s eye, is an essential key to this process. For example, a mental picture of your son enjoying himself at school will help you find ways of making that possible and your eagerness will be passed on to your child so that he too will be excited about going to school.
Barriers to a Positive Approach
There can be understandable barriers to a positive approach. Often parents blame themselves for their child’s illness and may feel they have been punished for something they have done. It is important to remember that a genetic disease is no one’s fault. However, it is not uncommon for mothers to feel guilty, blaming themselves, although incorrectly, for causing the disease. Fathers too can have difficulty accepting they have a disabled son who will not be able to do things that they would like them to do.
Sharing Feelings With Your Spouse
Couples can overcome these painful feelings by recognising them and sharing them with each other. Fathers may find this difficult because of societal expectations that they should be strong and not show their emotions. They need time and perhaps the right situation to express their feelings. Every person has their own way of resolving problems.
Significance of a Father’s Role
Normally children become more independent as they grow older. However for children with Duchenne muscular dystrophy, just as this independence begins to develop, the progression of the disease makes them physically dependent again. A father has an important part to play at this time and can make a wonderful contribution to a child’s life. Although it is not always possible to give lots of time, given the need to earn a living, any time available is valuable and constructive. Other male figures close to the family can also provide support and guidance.
Every Family Member Counts
Parents must remember that each member of the family has needs that must be recognised. Although the child affected with Duchenne muscular dystrophy has needs that are great and obvious, brothers, sisters and spouses can become upset if all of the attention is focused on one child. Try to strike a balance in meeting all of the family’s needs.
Role of Outside Activities
Another opportunity for gaining independence and confidence, particularly in coping with a variety of people and situations, is for your child to participate in activities outside the home. Not only does participation develop independence and a positive self-image, but the activities themselves provide a wonderful source of pleasure and enjoyment. Scouting activities and electric wheelchair sports, such as hockey, balloon soccer, and blow darts are specifically for children with Duchenne muscular dystrophy. There is also a wide range of community programs available.
Given the demands and challenges of situations they meet, at times a family may find it useful to seek professional counselling and assistance. This should be thought of as a positive and constructive action rather than a failure or weakness.
Parents Of A Child Who Had Duchenne Muscular Dystrophy
“We would go through it again. We consider it an honour to have shared our lives with our son.”
The following section describes some of the ways a family shared their lives with a son having Duchenne muscular dystrophy. It includes both practical advice and ways of dealing with issues of an emotional nature. The Morrisons are sharing their experiences with you in hope that you too can live with hope and provide a positive environment for your son. They have wonderful memories of happy times shared with their son. They developed a very positive, loving, and practical approach to dealing with the many obstacles they encountered. This does not mean that you should live your life exactly as they did; this is one approach which was appropriate to their situation and may help you in some way.
The Morrisons’ eldest son, Peter, died of Duchenne muscular dystrophy when he was seventeen. They have two other children, a boy who does not have muscular dystrophy and a girl for whom it is not yet established whether she is a carrier. Mrs Morrison took the role as primary carer of their son. During his son’s adolescence Mr Morrison had the opportunity to change his job and took on a position with greater flexibility in the hours he worked, enabling him to offer more support to his wife.
The Morrison’s Opinions
What to tell your child?
Mrs Morrison’s experience suggests that your child’s questions are a good indicator of what he is ready to hear. Questions about life expectancy are more likely to arise when a child reaches secondary school age, although it could be sooner.
The School situation
It is important to inform the principal and the class room teacher of your son’s needs, so that you can control the situation. The school needs to know how you want the situation dealt with. Education Department Integration Officers can be extremely helpful at these times and they can also liaise with the school on your behalf over the numerous obstacles that can arise. An example of what a teacher or the parent themselves could say to primary school children is: “Peter has a muscular problem. He has difficulty walking and will eventually be in a wheelchair. There will be times when we would like your help.”
The Morrisons feel that attending an integrated school is better for skills acquisition and if your child can cope in an integrated setting, they feel this is to be encouraged. In the later stages they used a blend attending a special school and an integrated school. Some children however do benefit from specialist education and the services provided by paramedical staff.
It becomes a case of assessing your child’s potential. Motivation becomes a significant factor in educational advancement; people tend to live a different lifestyle when they know they have a reduced life expectancy. However it is important that educational programs do focus a person to find meaningful work once they have left school.
What about employment?
Many children stay at school even though it no longer has anything to offer them. This is an area of real concern, especially as many children are living longer. To find some meaningful part-time work is very difficult and it requires an understanding employer. The Morrisons feel there is considerable potential in computers and switchboard operation for Duchenne muscular dystrophy patients and possible sources of employment in this area need investigating.
The Morrisons went through an intense grieving period for the two years immediately following their son’s diagnosis. They remained basically alone, as a way of coming to terms with their challenge. Social work assistance was offered, but they didn’t feel this was appropriate for them. A trip to Disneyland during this grieving period was the first of many annual holidays for their family and it was during these holidays that many happy memories were made. Thus followed a period of acceptance and a sense of hope and what evolved then was a need to try to make life as normal as possible and to develop a plan to deal with things as they arose.
Support from other mothers with children with Duchenne muscular dystrophy became very important and an essential part of the coping process. Support, comfort and good friendship from others “in the same boat” became an important part of their lives. They were no longer dealing with it alone.
Peter enjoyed social contact with a broad range of people. He maintained friendships with boys from early primary school days, and also had friends with Duchenne muscular dystrophy and other disabilities. This was very important to his development. Contact with those who did not have the disorder helped to take away the feeling of being different, while contact with other Duchenne muscular dystrophy patients gave him the opportunity to be just himself. Duchenne muscular dystrophy patients together can talk about how they feel and how they deal with certain situations in a way that is different from talking with their parents. This peer support is invaluable, something which plays a big role in the life of any teenager or young adult. Schooling (both integrated and special), scouts, electric wheelchair sports, camps and occasional respite care provided the arena for this broad social experience.
Need to nurture the caregivers
Mrs Morrison worked at various times through her son’s life. This was very important to her as she felt that at work, she could be herself and found relief from having to respond to the ever present needs of her family. Not everyone is in the position to find flexible work, but the principle here is important: the need to recognise your own needs and to make time for something that is enjoyable for you. In her own words:
“You need to feel good about yourself and good about your child”.
A Person with Duchenne Muscular Dystrophy
At seventeen years of age Tim currently attends secondary school, completing Year 11. He is a delightful person, typically struggling with the challenges of any person of his age: school, making friends and thinking about what he might do when he leaves school.
He was diagnosed with Duchenne muscular dystrophy at seven. He lives with his parents who have encouraged him to lead as ‘normal’ a life as possible. All of his schooling has been at a regular school and he has requested no special treatment at school. He aims to earn respect and develop friendships through his own maturity in relating to other people and through his own efforts. Tim learnt that Duchenne muscular dystrophy imposed a reduced life expectancy when he was 12. He does not seem to struggle with this fact, but rather seems to have developed an acceptance with which he is comfortable and has a way of making you feel comfortable too.
This does not mean that life is not without its hurt. For example, when he excelled at school work, friends who had scored lower marks claimed his marks were higher because he had special treatment. This hurts Tim, as his results have been achieved solely due to his hard work and effort. How he deals with this sort of hurt has matured; at one stage he decided to put in less effort with his school work, to avoid dealing with such comments. Now, he tries to put in as much effort as he can.
If he does get hurt, he likes to go off on his own, to cry or to release his anger. Some days he does ask, “why me?” Tim enjoys activities with scouts, camps and spends occasional weekends at respite care. In the coming year he has decided to take up hockey and to move out of home. His reason for deciding to take up hostel living is partly due to the demands his family face, and partly to experience more independent living.
His ultimate goal is to earn his own source of income. He wants to do this in the field of computing. Tim believes the following points have been valuable to him
- Parental support is vital. His parent’s attitude of encouraging independence and supporting him in making his own decisions has contributed a great deal to his quality of life.
- Be as independent as possible. For instance, for as long as he was able, Tim dressed himself. It would have been quicker if his parents did it for him, but accepting his slower pace has contributed significantly to the development of his self-worth.
People say things that hurt your feelings, but with maturity you will learn when it is appropriate to assert yourself and tell them they are wrong. When there is no point in saying anything, remove yourself from such people, deal with the hurt, cry or scream, and then move on. Always try to do your best, you may not always be successful, the important thing is knowing that you tried.
DMD – A Guide for Parents
EVERYDAY LIVING & OCCUPATIONAL THERAPY
SUPPORT, SERVICES AND AIDS
The information required to assist you with everyday needs depends on the age of your child and his mobility. However, some services are relevant irrespective of age or mobility and have been described in the first part of this section. They include:
- Occupational Therapists
- Royal Children’s Hospital
- Muscular Dystrophy Australia
- Respite Care
- Independent Living Centre
- Learning and Living Centre
Occupational therapists, along with physiotherapists, are skilled in assessing and solving the physical problems encountered in everyday living.
Everyone needs to be independent and the problems encountered by children with Duchenne muscular dystrophy are shared by many people with physical disabilities. Stairs, rough or hilly school grounds, access to the toilet and bathroom facilities, are a few of the difficulties to overcome. These obstacles are not only experienced by children with Duchenne muscular dystrophy, but are shared by many people with physical disabilities.
For most families, the use of a few aids and some minor home modifications are all that are required to allow as much independence as possible. Occupational therapists can advise on ramps, handrails and equipment such as shower chairs, extended shower hoses, bottles for toileting, pick up tongs, levers on taps, height adjustable tables and other aids. They can offer advice on techniques for transferring and lifting and the availability of hoists. They can visit the school or home to assess what is required to promote access and independence.
Some families will find their family home, in the long term, will be unsuitable for wheelchair access or will not be appropriate for things like bathing or toileting. If it is necessary to renovate or to move, it is vital that the advice of an appropriate occupational therapist be sought before proceeding.
The Royal Children’s Hospital
In addition to medical services, the hospital offers a wide range of paramedical and support services. These include social work and counselling services, physiotherapy (including wheelchair advice), occupational therapy (including advice on home modification and rehabilitation to achieve employment). The Royal Children’s Hospital also has a Department of Child Development and Rehabilitation with staff experienced in the area of disability.
Muscular Dystrophy Australia
As a result of ongoing contact with families, the Muscular Dystrophy Australia (MDA) has wide experience in dealing with the difficulties families encounter. MDA often provides a good first point of contact as they can direct you to organisations offering different skills, information and support appropriate to your son’s age and stage of development.
MDA can put you in contact with other families and have their own community support worker who provides support to families including home visits to those living in rural areas. MDA runs a number of camps each year, as well as other respite activities and regular parent groups are also held across the state.
Respite care provides families with a break from the pressure of caring for a child with a disability. It also allows the child contact with new friends and experiences. Respite care is available from a number of organisations:
- Local Councils
This service varies between councils but it is possible to arrange respite care for part of the day and on a regular basis if required.
- Interchange Family Program
Families are recruited from the community to provide weekend or overnight care. Contact can be frequent but a minimum monthly contact is encouraged. The program endeavours to offer respite care to families and social experience to the hosted child and most regions in Victoria are covered by this program.
- Independent Living Centre
The Independent Living Centre is an equipment and information service for people with disabilities. The centre has a telephone service staffed by therapists and it is also possible to visit the centre with a therapist from the Royal Children’s Hospital.
The Microcomputer Applications Centre is also located at this centre and offers a range of services aimed at assisting people with disabilities, firstly to select micro-electronic equipment that is appropriate for their specific skills and needs and then to use it effectively.
Learning and Living Centre provides a range of short courses designed to meet the needs of people with a disabilities. They include programs on recreation, personal development and pre-vocational development.
Benefits & Concessions
Federal and State governments provide a range of support, benefits and concessions. Some of these can be viewed here.
You are not alone
At the time when a child is diagnosed as having Duchenne muscular dystrophy their parents feel very alone, especially those who have never heard of muscular dystrophy. They feel they are the only people in the world with a child with the disorder. They worry about how they will cope, how they will tell other members of the family and how everyone will deal with the situation. Parents can find it very helpful to share these challenges with another parent who has a child with muscular dystrophy, particularly if that child is at the same stage as theirs.
Muscular Dystrophy Australia can link parents with another family for this kind of support. Both MDA and other families with a child with Duchenne muscular dystrophy, have a very good idea of how parents feel and will not impose themselves. Help is available when it is required.