Dr. Luca Bello discusses the importance of early diagnosis of DMD and how to recognise the early signs and symptoms (muscle weakness, not walking by 16-18 months, calf hypertrophy, cognitive and speech delay). If you suspect DMD, perform a creatine kinase (CK) test.
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.
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.
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.
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.
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.
Watch this video to hear from Dr. Luca Bello, Physician Neurologist from Padova, Italy discussing the diagnostic journey for a DMD patient. Starting with a creatine kinase (CK) test to the importance of an accurate diagnosis through genetic testing to enable the correct medical management options to be identified.
Don’t wait to investigate suspicions of Duchenne muscular dystrophy. Order a CK test, elevated CK levels should prompt referral to a neuromuscular specialist for further testing.
https://www.shutterstock.com/image-photo/rear-view-lower-section-34-year-1494966980 [Accessed September 2020].
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Developmental delay should trigger a creatine kinase (CK) test2,3
Family members of an individual with DMD should receive genetic counselling to establish who is at risk of being a carrier.1
Carrier genetic testing should be performed in female relatives of a boy or man who has been genetically confirmed to have DMD.1
Carrier testing may help reduce the transmission of Duchenne muscular dystrophy and improve outcomes for women at risk.1-4 Click here for the 2018 Duchenne Care Considerations.
Remain ambulatory for longer
Preserve their pulmonary and cardiac function longer
Have a better quality of life
Prompt intervention is critical to help delay disease progression and help preserve muscle function for as long as possible.
Early diagnosis and care can help slow Duchenne muscular dystrophy progression and minimize the risks of complications of the disease.
If you see signs and symptoms of Duchenne muscular dystrophy, order a creatine kinase (CK) test – click here to learn more
In this video, Prof. Ros Quinlivan from the National Hospital for Neurology and Neurosurgery in London, UK describes the early key signs and symptoms that would trigger a suspicion and further testing. She also describes the progressive nature of the disease and discusses her centre’s experience in the management of patients with DMD.
This video is based on professional and expert opinion of Prof. Ros Quinlivan.
Additionally, once a mutation is identified, female relatives can find out their carrier status. This is important for two main reasons:2
Female carriers can pass on Duchenne muscular dystrophy to their children
Female carriers need medical assessment and follow-up
Genetic testing is the only way to determine the specific mutation causing Duchenne muscular dystrophy and could help patients get on the right treatment pathway1,2
A CK test should be carried out if:
|IF CK IS ELEVATED|
(Normal range is generally up to 250 U/L*)1
|Refer to neuromuscular specialist for Duchenne muscular dystrophy gene testing6|
|IF CK IS NORMAL||Does not rule out other neuromuscular disorders1|
*The normal CK range is generally up to 250 U/L. Absolute values may differ between laboratories.1
Prompt CK testing can help to achieve the correct diagnosis and bring reassurance to families1,9
If you suspect a neuromuscular disorder, order a CK blood test.1
• Elevated CK levels reflect muscle damage, and are a sign of certain neuromuscular disorders1–5
• A CK test is quick, simple and inexpensive1,3,6
All patients who have elevated CK levels should be promptly referred to a neuromuscular specialist.8,11
Normal or mildly elevated CK does not rule out neuromuscular disorder. If a patient has missed motor milestones, they should also be referred to a neuromuscular specialist.8
A neuromuscular specialist can then:2
Identify the child’s exact mutation2
Confirm Duchenne muscular dystrophy with a genetic diagnosis and identify the specific mutation causing the disease2
Define best management options2
Decide upon appropriate treatment and interventions to help delay disease progression2
Prompt CK testing can help to achieve the correct diagnosis and bring reassurance to families.3,13 Learn more about CK testing here.
The following materials are intended for healthcare professionals. These materials have been developed and funded by PTC Therapeutics.
Physician Neurologist Dr. Luca Bello explains the importance of early diagnosis and key signs and symptoms to look out for in DMD.
Dr. Luca Bello describes the key steps in reaching a DMD diagnosis from an initial suspicion of the condition.
Paediatric Neurologist Dr. Damjan Osredkar discusses his centre’s experience in the diagnosis and management of DMD. He also describes the benefits of a multidisciplinary care team and explains why it is important to have an individualised DMD care plan.
Prof. Ros Quinlivan from the National Hospital for Neurology and Neurosurgery in London, UK describes the early key signs and symptoms that would trigger a suspicion and further testing.
Read more on how you can help aid recognition and diagnosis of Duchenne muscular dystrophy
They provide education about DMD and its therapeutic options
They can coordinate diagnostic genetic testing
They can establish who is at risk of being a carrier and organise carrier genetic testing
They can discuss family planning options
They provide emotional counselling
(excluding UK and Ireland)
Not a healthcare professional but want to know more? Visit Duchenne and You for more information on signs and symptoms of Duchenne, diagnosis and support following a Duchenne diagnosis
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