Why for World Duchenne Awareness Day 2022, women are in the spotlight.
In Duchenne and Becker Muscular Dystrophy the spotlight is –almost always– on boys and the men living with the rare muscle-wasting disease. No wonder, as it is an X-linked disease. This means that the genetic mutation is located on the X-chromosome of which boys and men only have one. Women have, in general, two X chromosomes. This means women have a ‘spare’ gene that is still encoding for dystrophin.
The role of dystrophin
The muscle breakdown is being caused by missing the genetic information to produce dystrophin. This is well-known in the field of Duchenne. A loss of dystrophin is leading to loss of motor functions, difficulties in breathing and coughing, and weakening of the heart muscles. At a later stage, the smooth muscle function may be affected. Additionally, dystrophin is also playing a role in the brain. Although there is still a lot to learn about the exact role of dystrophin in the brain, we see a higher percentage Duchenne boys and men with learning and behavioral issues.
Why women in Duchenne?
There are several reasons that this year’s World Duchenne Awareness Day has women in the spotlight.
- Mothers are often the primary caregivers.
- Women can be carriers with or without symptoms. Carriers of the Duchenne mutation can have symptoms in line with those seen in males living with Duchenne.
- Women with Duchenne exist. When a woman’s ‘other’ X-chromosome is not existing or not ‘turned on’, she can have exactly the same symptoms and course of the disease. These women have the diagnosis Duchenne MD and should be included when talking about Duchenne.
- All over the world there are extraordinary women playing an important role in the Duchenne field, in advocacy, research and care. Their work and impact will be highlighted during WDAD 2022
- With a longer life expectancy in Duchenne, a new group is emerging: those of the partners and spouse.
Mothers as primary caregiver
First and foremost: for all mothers, carrier or not, it is important to pay more attention to wellbeing and self-care. Not only by themselves. This should be encouraged by clinicians looking after their sons, friends and family members. A famous quote is: ‘You first have to look well after yourself before you can look after others.’ Many Duchenne mothers miss their regular health checks. In addition to this, research showed they are significantly less fit than other women their age. Having a healthy lifestyle including time for yourself is important for your mental health.
Secondly, carriers, whether they are mothers, sisters, aunts or any other carrier, need regular checks and support. For example for heart function, muscle weakness, and psychosocial issues. Learning difficulties may need to be checked. The intensity of these visits and support depends on how severe the symptoms are.
Women living with Duchenne
There are girls and women lacking dystrophin, having the same clinical features as boys and men. However, girls and women are often diagnosed with more difficulties and delays, because Duchenne and Becker MD are considered a male only disease. Often, women need to explain that they too, can be affected with Duchenne MD. We as Duchenne Community should raise more awareness for this.
Women in Duchenne science and care
The Duchenne Community is blessed with involvement of exceptional women working in the field of research and care for everyone affected with a dystrophinopathy. They are ambassadors and mentors at the same time. They are spearheading the translation of research and care recommendations for families.
DMD Partners and spouse
Over the past decades, life expectancy of people living with Duchenne and Becker Muscular Dystrophy has increased significantly. Young boys are growing up and become young men, and adults. Partners and spouses play an increasing role in their lives. In other words, partners and spouse are becoming a new group in the Duchenne community. We should include their unique perspective.
Goals of World Duchenne Awareness Day 2022
- Support mothers as primary caregivers
- Acknowledge carriers and their clinical needs
- Recognize women living with Duchenne
- Celebrate strong female leaders in DMD research and advocacy
- Include the perspective of partners and spouse
This World Duchenne Awareness Day, we are honoring and learning from the extraordinary women in the Duchenne and Becker MD field. This is going beyond the carriers and women with Duchenne MD. The patient advocates fighting for new developments, the women organizing support groups and the researchers and clinicians who continue to make a big difference in the lives of everyone affected by Duchenne and Becker MD.
Educational event on September 7
Moreover, on September 7, the World Duchenne Organization will host an educational event on women and Duchenne. During this virtual event, experts share their knowledge, stories and experiences surrounding women and girls in the field of DMD/BMD. The event is open for everyone and registration is not needed.
There are official materials that can be used to raise awareness for World Duchenne Awareness Day. Visit the Download Materials page to access the visuals and texts. All materials are available in multiple languages. In addition to finding the press kit, people can find Did-You-Knows, social media banners, and high resolution logo’s.
For questions and inquiries, please contact Suzie-Ann Bakker:
Photo by Omar Lopez on Unsplash