As a child, Kenny Lee used to fall down often and experienced muscle cramps without any reason. It was only much later that he was diagnosed with a prograssieve neuromuscular disease known as Duchenne’s Muscular Dystrophy (DMD)..
Duchenne’s Muscular Dystrophy (DMD)
According to consultant paediatric neurologist Dr Tay Chee Geap, this neuromuscular disease is caused by the lack of dystrophin, a natural protein vital for muscle development.
He said, DMD is caused by a X-linked genetic mutation in the DNA that is responsible for production of dystrophin, a protein responsible for maintaining muscle cell structure and functions.
This protein would allow muscular contractions and lengthening in the fully functional human body to happen without damage. With a lack of or malfunctioning dystrophin proteins, muscles won’t be able to function or repair itself properly. This in turn, leads to the muscle cells being replaced with scar tissue and fats instead; gradually resulting in loss of strength and function.
Speaking at a media tutorial recently, Dr Tay added that more males have DMD symptoms while females are typically carriers, potentially passing on the affected gene to their children.
Most patients would get a confirmed diagnosis of DMD by the age of 9 though they could exhibit the symptoms as early as 3 – 5 years. Due to the progressive nature of DMD, children diagnosed with it would eventually lose their ability to walk and in later stages; their ability to move and even breathe as all muscles in their bodies weaken.
Coordinating a Plan for Complex Care: Early Stages of DMD
However, in the case of DMD and other NMDs, the outcomes would be much better if these debilitating diseases are identified in the earlier stages. In fact, it is always best to seek medical advice and counsel when something is out of the ordinary in the child. Moreover, as DMD would come with its own complexities at each stage of the disease, the need for a caring multidisciplinary healthcare team is key in the management of the child’s case. While there is no cure for DMD yet, DMD patients nowadays can live into their 20s and 30s with proper medical support thanks to the advancements in medical research and technology.
During initial stages when the disease is first diagnosed, good coordination of care is key. This is especially so with complex conditions; the resulting management would be more comprehensive and well-rounded. Prompt management can start by means of steroidal therapy, enabling the child to prolong their ambulation and the quality of life that comes with it by a few years.
These would be further enhanced with help and advice from the physiotherapist and occupational therapist. As children are generally active; mild, non-jarring exercises are beneficial for the child with DMD and helpful in maintaining joints and muscles functions. The use of orthoses and braces will also be useful in helping the child maintain the correct joint position and prevent its contracture. Surgical intervention to prevent scoliosis caused by progressive muscle weakness may also occur at this stage of management.
Ensuring Quality Life with Good Sleep: Later Stages of DMD
As the child grows into adolescence, the patient would gradually to find it harder to move and would require use of assistive devices such as wheelchairs or strollers to continue moving around independently.
The multidisciplinary team would also start to take the patient’s heart and lung function into account with the deterioration of all muscular function and strength. Cardiomyopathy and cardiac arrhythmia could set in even if there are no presenting signs or symptoms due to weakening heart muscles. Hence, regular heart screening such as echocardiograms can start as early as 10 years to help cardiologists monitor the patient’s heart’s health. Medications are normally given to help manage these heart conditions.
With the aid of technology today, what we can address now is the core of DMD medical treatment-sleeping disorder, which equals lung function disorder. According to Dr Norzilia Mohamed Zainudin, Consultant Pediatric Respiratory Physician, lung muscles would gradually get weak when patients stop walking. During nights, patients will find it extremely difficult to fall asleep and get a deep rest because of the poor respiratory power, even possibly leading to the sleeping threats
. Part of the patient’s respiratory management would involve a respiratory physician expertise in performing and analysing the patient’s lung function tests. This is to monitor the strength of their breathing muscles, which is done from the moment of first diagnosis. Sleep assessments would be also be conducted to monitor the amount of oxygen and carbon dioxide that the patient inhales and exhales during sleep. From these assessments, the respiratory physician will determine the patient’s need for respiratory devices and its type which will help improve the patient’s quality of life.
Indicators including lung function tests figures help monitor hypoventilation at night. This requires the survival machine functioning just as a monitor in order to revive their quality of sleep and life! The tube can supply oxygen all the time and ensure a good sleep to get energy for the next day. Taking the advantage of being portable, available and accessible, this machine can be of great help to those DMD patients.
Caregiving and Peer Support: Mental Wellness amidst DMD
Emotional and peer support is very important as the patient’s mental wellbeing would affect the outcome of the treatments as well as their daily quality of life.
For Kenny, being part of a peer support group siince the age of 12 has enable him to face his life’s challenges positively. As he took up courage to turn all fears into positive sharing of his emotions and experiences to help other people like him.
It is also important that parents and caregivers are supported in their care and management of their child’s condition. If potential issues arising from the diagnosis are not addressed properly or with care, it could cause family dysfunctions and in worst-case scenarios, divorce. Ideally, counselling and support would be given when the child is first diagnosed with DMD., Parents and caregivers could be linked to relataed parent support groups so that they would gain encouragement from others and provide the same to those who need it.
As advancements made in the clinical research and study of genes, clinicians expect that there will be further progression into DMD and overall NMD management, in addition to the genetic therapy treatments already available. While there may be no cure for DMD yet, proper care and management of the disease will make all the difference in ensuring that the child is able to live to their fullest potential no matter their age or stage of the disease