Parent’s perspective: my wonderful Duchenne son

Never will I forget the sunny day in March, many years ago, when the paediatrician announced: “Your son has a serious, incurable muscle disease.” He looked at me cautiously, as if waiting for a reaction. A sign that I understood what he had just said.

But there was nothing. My head was fuzzy.

I sat there numb, and had no idea how to start getting my head around this word. I just couldn’t grasp it. But two thoughts crossed my mind.

Was this man off his head giving me such a terrifying diagnosis after just watching my son stand up once? At the same time the thought came: of course, he’s right, and I knew it!

Despite all the reassurance from doctors, physiotherapists and other people, I had always suspected that something was wrong. If I were not so shocked, I might have felt a fleeting sense of satisfaction. Finally, I was no longer the neurotic mother who was always imagining things.

Why my child?

A dark time followed that fateful March day. For days I felt like I was in freefall. Not once was I able to remember the words ‘muscular dystrophy’, because my consciousness refused to accept this diagnosis. All I could think about was that my barely five-year-old, innocent, blonde, curly-haired boy would die of this disease. That thought ripped my heart out.

Why my child? As hard as it was, I kept asking myself the same question. I quarrelled with God and the world – especially with God. What had I done to deserve this? What had my child done? I looked for answers in religion, read books on coping strategies, and looked for advice from other parents of ‘special’ children, gradually learning to give up meaningless and difficult questions.

I decided that despite this devastating diagnosis, we would have a good life

Naturally, my little boy did not suspect what was going on, and his older sister went about her life. That was maybe my salvation: I was forced to carry on as normally as possible. After a few weeks this hard time ended and I began to deal with the illness. I spoke to the nursery, primary school, friends and neighbours. I turned to the church and I researched self-help groups. Sometimes I had to swallow a lot but the more I talked about the disease, the easier it became for me. I decided that we would have a good life despite this devastating diagnosis. The idea of life expectancy faded into the background and disappeared for many years. I stopped searching for research and concentrated on life instead.

Important decisions had to be made again and again. Which school is suitable? How would he get on there? Does he need a teaching assistant, or could he manage without? How will I deal with the topic of school trips? Will he be bullied? Should he take steroids or not? How can I tell him why he is so different from his friends? How do I find the right words?

When will he need a wheelchair? How can we deal with the situation as a family? Will I be able to do justice to his sister? Many sleepless nights came and went, and it was always my son who gave me courage and strength.

Naturally our life was very different to those of our family, neighbours and friends, simply because we thought differently.

Completely and naturally, he accepted his fate

My son went to the only local primary school along with his friends, unfortunately on a hill. Sending him to the nearest special school would certainly have made many things easier, but I didn’t feel he belonged to that world yet. The children in his class were totally at ease with him and the school went out of their way to make school trips manageable. He felt fine, was almost always in good spirits and carried on like a normal person. The moments when he was sad or stressed were rare and never lasted long.

As he got older he started to think about his situation. He kept his thoughts to himself. Text books say you should only answer the questions your child asks. But he did not ask questions. He seemed to sort things out on his own. Without any fuss, he just seemed to accept his fate. I was worried because for a long time I thought he needed to know what was the matter with him. But I found out many years later that he had in fact known for a long time, but just didn’t talk about it. Still, I felt it was time to put my son in touch with other children with Duchenne. So, in the hot summer of the football world championship in Germany, we drove to a rehabilitation clinic in Weserbergland for the first time.

I was surprised to discover how relaxed and happy the mood was between the parents and children; even families with older boys were having fun. I was even more surprised that we became part of a big family. To this day, our rehabilitation stays in Hoxter are one of the highlights of the year.

His illness always gave me the time to grow into it and keep up

And so the years went by. There were several surgeries and long hospital stays. The need for financial assistance steadily increased, there were many battles with health insurance, and there was always the ongoing worry about his health, his muscle loss and loss of function, ventilation and heart medication.

I watched his playmates progressing while he went backwards, and that hurt a lot. On the other hand, I learned to live in the present – a skill I had always wanted. His illness always gave me the time to grow into it and keep up. I grew into it and made my peace with Duchenne.

Today my son is a smart, polite and, above all, compassionate person who always makes me laugh with his dry humour. He is a gift: my wonderful Duchenne son!

Click here to find out what you can do help to achieve the correct diagnosis and bring reassurance to families.

The Duchenne muscular dystrophy (DMD) journey: from symptom onset to management

From the recognition of symptoms to treatment and supportive care, there are multiple stages in the management of a patient with DMD.

In this video, Paediatric Neurologist Dr. Damjan Osredkar discusses his centre’s experience in the diagnosis and management of Duchenne. He also describes the benefits of a multidisciplinary care team and explains why it is important to have an individualised DMD care plan.

Click here to learn more about diagnosis and management of Duchenne muscular dystrophy

The Duchenne muscular dystrophy (DMD) multidisciplinary care team

DMD care can be complex. It requires multiple interventions, including neuromuscular, respiratory, cardiac, orthopaedic, endocrine and rehabilitative. These will evolve over the course of the disease.1

As such, international care guidelines for DMD recommend a coordinated, multidisciplinary approach to care.1

By assembling a group of providers in a multidisciplinary team, the patient can benefit from:1

  • Integrated skills and knowledge from multiple disciplines
  • A coordinated and comprehensive treatment plan

Adapted from Birnkrant 2018 [Part 1] and Muscular Dystrophy UK1,2

Who are the key specialists in the DMD multidisciplinary care team?

muscle

Neuromuscular management1

KEY ROLE: to optimise the maintenance of muscle strength and function, lead the multidisciplinary clinic, and act as first point of contact to families

A neuromuscular specialist:

  • Leads, administers and coordinates the DMD multidisciplinary clinic
  • Characterises the patient’s disease trajectory and defines the treatment plan 
  • Provides patient and family support and education

Initiates and manages use of pharmaceutical interventions

Rehabilitation management1

KEY ROLE: to provide physical, occupational, and speech and language therapy

Professionals including physical therapists, occupational therapists, speech-language pathologists, orthotists and medical equipment providers:

  • Help prevent or manage muscle/joint contracture, deformity, falls and fractures 
  • Help prevent or manage pain
  • Promote exercise and activity
  • Provide orthoses, equipment and learning support

Cardiac management1

KEY ROLE: to evaluate cardiac function and manage cardiac complications

A cardiologist:

  • Monitors cardiac function and conducts cardiac assessments (in both DMD patients and female carriers)
  • Initiates and manages cardiac pharmacological therapies
  • Uses heart failure interventions with deterioration of function

Respiratory management1,6

KEY ROLE: to evaluate respiratory function and manage respiratory complications

Professionals including physicians and respiratory or physical therapists:

  • Monitor respiratory muscle function 
  • Manage lung volume recruitment, assisted coughing, nocturnally assisted ventilation and subsequent daytime ventilation
  • Manage immunisation schedules

Orthopaedic & surgical management1,6

KEY ROLE: to manage joint contractures and scoliosis

Professionals including physical therapists, occupational therapists, rehabilitation physicians, neurologists, orthopaedic physicians and social workers:

  • Provide surgical interventions to manage contractures and scoliosis
  • Provide physical therapy before and after surgery
spine

Bone health management1,6

KEY ROLE: to diagnose and treat osteoporosis

A bone heath expert:

  • Identifies early indications of bone fragility
  • Initiates and manages intravenous bisphosphonate therapy to treat osteoporosis

Psychosocial management1,3

KEY ROLE: to manage learning, emotional and behavioural disorders

Professionals including mental health clinicians, occupational therapists and physical therapists:

  • Assess mental health and educational needs
  • Provide neuropsychological evaluation/interventions for learning, emotional and behavioural problems

Specialist nursing2

KEY ROLE: to provide practical and emotional support for families affected by DMD

Specialist nurses:

  • Provide advice and information to patients and families about DMD
  • Support a patient’s physical and emotional wellbeing

Genetic counselling4,5

KEY ROLE: to manage genetic testing and explain what the results mean for families

A genetic counsellor:

  • Provides education about DMD
  • Coordinates and explains genetic testing
  • Provides emotional counselling
  • Discusses family planning options

Gastrointestinal and nutritional management1

KEY ROLE: to promote a healthy diet and weight, and manage any gastrointestinal problems

A dietitian nutritionist:

  • Monitors growth and weight to prevent undernutrition, malnutrition or obesity
  • Promotes a healthy, balanced diet
  • A gastroenterologist:Manages constipation, gastroesophageal reflux, gastrointestinal motility concerns and gastrostomy tube placement

Regional care services2,7

KEY ROLE: to provide practical and emotional support for families affected by DMD

Regional neuromuscular care advisors:

  • Help support patients in school and work environment
  • Assist in planning for major housing adaptations and equipment resources
  • Support the transition from child to adult medical care
  • Advise patients on disability benefit assessments
  • Educate other healthcare professionals about DMD

Endocrine management1

KEY ROLE: to manage endocrine complications of DMD and initiate hormone replacement therapy

An endocrinologist:

  • Manages hormone deficiencies and hormone replacement therapy in the case of impaired growth or delayed puberty onset
  • Educates families on the risks of adrenal crisis following glucocorticoid termination

Please note that the information in this table is intended to provide an overview only and is not exhaustive information. Please refer to the international care guidelines and any local guidelines for more information.

International care guidelines for Duchenne muscular dystrophy recommend a coordinated, multidisciplinary approach to care.1 Click here to learn more.

Working together to improve the lives of patients and families

It is possible to help improve the quality of life and life expectancy of individuals with Duchenne muscular dystrophy.1,2 With the right care and access to adequate therapeutic strategies, healthcare teams have been able to:1,3
  • Help delay loss of ambulation
  • Reduce disease complications
  • Improve survival

For your patient, this can mean leading a fulfilling, independent life into adulthood.

These focused, two-page summaries provide you with a digestible overview of the 2018 International Duchenne Care Considerations.

Click on the summaries to view.

Diagnosis and management of Duchenne muscular dystrophy – Part 1
Diagnosis and management of Duchenne muscular dystrophy – Part 2
Diagnosis and management of Duchenne muscular dystrophy – Part 3

Studies have shown that early diagnosis and care can help slow Duchenne muscular dystrophy progression and minimise the risks and complications of the disease.1,2 Click here to find out how you can help drive a successful diagnostic journey.

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