Although muscular dystrophy is cited as one of the ten most common genetic diseases, few people have heard of it and those that have dread it because it usually strikes the very young and with devastating effect. Can it be controlled and managed?
Chilling facts
Muscular dystrophy (MD), a group of muscle wasting and weakening disorders, is often caused by a defective gene unwittingly carried and passed on by a mother to her son who is then affected by MD or to her daughters who become carriers of the gene. Although being born with the disorder, her son will only start showing the typical symptoms of MD when he takes his first steps. Duchenne muscular dystrophy (DMD), the most common and severe form of MD, is life threatening and fatal without a cure in sight as of yet.
Dreaded Duchenne muscular dystrophy (DMD)
Although there are numerous other forms of this disorder that affect both males and females, the young and not so young, Duchenne muscular dystrophy (DMD) is the most common, most dreaded and most severe form of the disorder. It targets mostly young boys (approximately one in every 3 500 worldwide) and leaves a trail of devastation in its wake.
Typical symptoms of early signs of DMD (age 3 to 7 years) are as follows:
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- Falling often
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- A peculiar way of getting up from the floor by supporting themselves with their hands on their thighs, called Gowers’ manoeuvre
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- Typical “waddling” type of walking mostly on their toes due to shortened tendons
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- Climbing stairs by bringing the second foot up to join the first instead of going foot over foot.
This is usually followed by increasing muscle weakness in the legs and pelvis, making it even more difficult to stand up, walk and climb stairs. Other complications include delayed speech development and learning and behaviour problems. By age ten most need leg braces and other aids to help them walk and by age 12 most are wheelchair bound. By their late teens or in their early twenties it is usually all over for most of them.
Can the disorder be managed?
Victims of this devastating disorder and their parents/caregivers have two options: one, to let the disease manage and control them; or two, to manage and control the disease!
Planning
Taking control almost always starts with planning. The first step is getting together a strong support team consisting of doctors/specialists, physical and occupational therapists, family, friends, mentors as well as support groups. The next step is getting hold of the necessary adaptive equipment and devices that the child may need to become independent and to modifying the home or other dwelling place where the child spends most of his time.
The plan centres on helping the child with DMD to live as normal, happy and meaningful a life as possible despite the realities of his physical limitations and the knowledge that his life may end prematurely. Part of the plan is to teach and encourage him to be as independent as possible as soon as possible and to see himself not as an extension of his wheelchair, but as an assisted but independent individual with a personality of his own. As one caretaker remarked: “these are normal children who just happen to be in wheelchairs”.
The main aim of the team is to help the child through every stage of his life by providing the following:
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- Medical care when needed
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- Occupational, social, learning and behaviour therapy
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- Physical therapy
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- Family, friend and mentor support.
Medical care
Although there is currently no cure for DMD, regular medical check-ups are essential to:
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- Monitor the child’s overall physical condition, especially his heart and lungs as well as the muscles that sustain them
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- Offer breathing support with ventilators or a tracheotomy (hole in the windpipe) and the use of nebulisers to remove mucus from the throat and clear the airways. The need for ventilation treatment usually starts in the mid-to-late teens
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- Prescribe heart medicines and steroids. Steroids are the only known drugs to slow the decline in muscle strength and motor function. Steroid use is aimed at keeping the child mobile for as long as possible. Monitoring the side effects of steroid use is an important issue that the child’s doctor/specialist and parents need to discuss
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- Check that the child has had all the recommended vaccinations, especially varicella (chicken pox), pneumococcal and influenza (flu) vaccines, before starting with steroids
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- Keep parents up to date with the latest research findings and new medicines being tested
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- Give genetic counselling to parents with a family history of the disorder
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- Assist during emergencies.
Occupational, social, learning and behaviour therapy
Occupational therapists devise plans to enhance the child’s quality of life by teaching him basic social skills, coping mechanisms when he faces bullying, peer pressure or rejection, or becomes depressed because he cannot walk anymore. It is important to build up his self-esteem and self-confidence and to encourage him to participate in school activities and fun leisure outings. Having hobbies or getting a job (yes, it is possible) will be an immense confidence booster for older boys. Speech, learning and behavioural problems, such as dyslexia and ADD, can be dealt with as they surface.
Physical therapy
The main aim of physical therapy is to help the child reach his maximum physical potential and to try to limit and minimise further damage and deterioration to muscles and limbs. It may include massages to relieve stiffness and pain, mild exercises and activities to improve muscle strength, function and flexibility, as well as posture and breathing exercises.
Equipment
Obviously the symptoms and progression of this disease make some everyday activities very difficult and certain aids are needed to help children cope effectively.
As mobility declines therapists may recommend orthopaedic appliances, such as splints to support and keep limbs stretched, leg braces, wheelchair, walker or quad canes.
It is very important to buy the right wheelchair, one with the proper seating and fit to prevent scoliosis. Being able to move where he wants to will give the child a feeling of freedom and independence. Adapting the entire home and garden to make it wheelchair friendly will give him the freedom to do so.
He will also need a specially adapted hospital bed and pressure-relieving mattress. Aids such as hand-held shower heads, bath benches, commode chairs, etc. are useful and will make it easier for him to see to his own needs. Fortunately, there is a wide variety of practical aids available for people with disabilities.
Support of family, caregivers and friends
Family support is absolutely crucial to the successful management of DMD, especially in very young children. Just knowing that you will be around and that you love and accept him will give your child renewed hope.
With your support, help and assistance your child will learn to adapt to his loss of movement and will later join the ranks of the many young men with DMD who, despite the statistics, currently live independent, fulfilling lives well into their thirties.
Help from family, friends and mentors or volunteers should be asked and accepted to also keep you afloat. We salute you, the parents and caregivers of these lovely but vulnerable children, for your loving care and input into their lives and remind you of the words of Pablo Eusebio, a 16-year-old DMD sufferer who said: “I keep looking forward to the future. Progress to a cure advances more every year”.
Sources
Duchenne muscular dystrophy. 2013. Retrieved from: http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy#Ongoing_research
Orsini, L. Stronger: three stories of living with Muscular Dystrophy. Retrieved from: http://dcintersections.american observer.net/category/dc-metro-area/stronger-three-stories-of-living-with-muscular-dystrophy-in-the-district
The diagnosis and management of Duchenne Muscular Dystrophy: a guide for families. 2010. Retrieved from: http://www.mdsa.org.za/dmd_familyguide.pdf
What is muscular dystrophy? Retrieved from: http://www.umanilnesses.com/original/Men-os/Muscular-Dystrophy.html