Blog written by Richard Harvey, Clinical Programmes Lead
Every year on September 7th, the world comes together to observe World Duchenne Awareness Day. This is a crucial event aimed at raising awareness about Duchenne muscular dystrophy, a devastating genetic disorder that primarily affects young boys. This day serves as a platform to educate the public, foster understanding, and encourage support for individuals and families grappling with this challenging condition.
What is Duchenne?:
Duchenne muscular dystrophy (DMD) is a genetic disorder characterised by the progressive weakening and degeneration of muscle tissues. It primarily affects males, with approximately 1 in 3,500 to 5,000 male births being diagnosed with DMD globally each year. The disorder is caused by mutations in the dystrophin gene, which is essential for muscle cell stability. As a result, those with DMD experience a gradual loss of muscle function, leading to difficulties in mobility, posture, and overall physical strength.
Symptoms of Duchenne:
The symptoms of Duchenne become apparent in early childhood. Children with DMD typically exhibit delayed motor skills development, such as difficulty in walking or running. As the disease progresses, muscle weakness intensifies, leading to difficulties in performing everyday activities. Climbing stairs, lifting objects, and even standing up become challenges. Additionally, contractures, which are permanently shortened muscles and tendons, further limit mobility.
While the severity of Duchenne can vary among individuals, the disease unfortunately tends to significantly shorten life expectancy. Historically, many individuals with DMD did not survive past their teenage years. However, advancements in medical care, supportive interventions, and research have extended the life expectancy considerably. With improved care and management, individuals with DMD can now live into their 30s and beyond.
The World Duchenne Awareness Day 2023 theme:
‘The World Duchenne Awareness Day 2023 theme is ‘Duchenne: Breaking Barriers’. World Duchenne Awareness Day (WDAD) is an annual event held on September 7. With this, WDAD supports creating a society that provides equal opportunities for all. This year we organize the 10th edition.
Duchenne: Breaking Barriers
People living with Duchenne and Becker muscular dystrophy (DMD/BMD) face physical, healthcare and social barriers. This severely limits their ability to participate fully in community life and activities. That’s why on September 7th we call on you to take on responsibility and help break down barriers for people living with DMD/BMD. Only together as a society can we create an inclusive society and build a better future.
Some examples of topics aimed at breaking down barriers in DMD include:
- Access to care: Ensuring that individuals with DMD/BMD have access to comprehensive and affordable medical care to manage their condition and improve their quality of life.
- Accessibility: Ensuring that public spaces, such as schools, workplaces, and community centres, are accessible for people with DMD/BMD.
- Advocacy: Raising awareness about the challenges faced by individuals with DMD/BMD and advocating for policies and programs that promote social inclusion and equal opportunities for people with disabilities.
- Community engagement: Encouraging individuals with DMD/BMD to participate in community activities and providing resources and support to help them do so.
- Employment opportunities: Creating job opportunities for people with DMD/BMD and providing support for them to find and maintain employment.
- Inclusive education: Providing opportunities for people with DMD/BMD to attend mainstream schools and participate fully in the educational experience.’
– Information on this year’s theme from the World Duchenne’s Day website.
Postural Support:
One of the most notable impacts of Duchenne’s is its effect on a person’s posture. As muscle strength deteriorates, maintaining an upright posture becomes increasingly difficult. This can lead to a range of secondary complications, such as scoliosis (abnormal curvature of the spine), respiratory issues, further compromise lung function and reduced quality of life.
With weakened respiratory muscles, individuals with DMD are at a heightened risk of respiratory infections and complications. Additionally, the inability to maintain a stable posture can affect digestion, mobility, and overall comfort. Postural support can play a vital role in the reduction of secondary complications improving the health of the individual with DMD. Having access to care, involves having access to postural support.
Impact of Specialised Seating:
An example of specialised seating: the Jenx Junior+
One of the key ways to mitigate the effects of poor posture in Duchenne is through the use of specialised seating systems. These systems are designed to provide support, alignment, and comfort, thus helping individuals with DMD maintain a more upright posture and reducing the risk of developing severe complications. Specialised seating solutions can range from adaptive cushions, external lateral and medial supports, tilt-in-space, head support systems and custom-made orthotic devices, each tailored to the individual’s unique needs. Specialised and mobility seating often ensures that individuals with DMD can reach medical appointments and services without physical barriers in order to have access to care.
Enhancing Health, Well-being, and Engagement:
Utilising specialised seating not only addresses physical challenges but also contributes to the overall well-being and engagement of individuals with Duchenne’s. By improving posture, seating solutions aid in maintaining better respiratory function, digestion, and comfort. Moreover, enhanced posture positively influences self-esteem and participation in everyday activities. With the right support, individuals with DMD can lead more independent and fulfilling lives, actively participating in school, social interactions, and helping to increase community engagement.
Conclusion:
World Duchenne Awareness Day serves as a crucial reminder of the challenges faced by individuals with Duchenne muscular dystrophy and their families. Through increased awareness, understanding, and support, strides can be made in research, treatment, and improving the lives of those affected by this condition. Those organisations promoting World Duchenne Awareness Day look to foster inclusivity, empower individuals with DMD, and strive for a brighter future through continued advancements in medical care and support.
