Chances are, you’ll never meet anyone like Lizanne, a 22-year-old woman from the Netherlands. Not only is she extraordinarily passionate about storytelling and filmmaking, but she was diagnosed with a disease largely considered a ‘male-only’ disease – because it affects one in every 3,500 men and only one in every 50 million women.[1]
Due to the rarity of the disease, Lizanne is one of fewer than a hundred women likely to be living worldwide with the rare muscle-wasting disease, Duchenne muscular dystrophy, or Duchenne.1,5 It’s a challenging disease for anyone, with most becoming wheelchair bound in their teens as well as facing progressive muscle weakness, breathing difficulties, heart problems, and losing the use of their arms.1,[2],[3],[4] Navigating it as a one in 50 million woman calls for incredible resilience and strength.
Here’s what Lizanne had to say about living with Duchenne…
I was diagnosed with Duchenne when I was just 3 years old. As the condition is so rare in women I have often found it challenging, but I was able to channel my frustration through creativity. When I was 14 years old I met a writer through ‘Make a Wish Foundation’– this was when I first had the idea to go into screenwriting. I moved to the UK when I was 16 to attend high school. It was around this time I realized life wouldn’t be easy as a result of my condition. However, I’ve made practical adaptations to live with Duchenne and am still able to walk at the age of 22!
One of the main challenges of being a woman with Duchenne is that I sometimes feel alone in my diagnosis, as there are so few of us. It can be hard to find someone that can relate to what you’re going through. Around 3 years ago I made friends with another young woman with Duchenne which has been helpful.
I have not let my Duchenne hold me back. I recently completed a degree in Digital Television Production at Ravensbourne University in London. My university course covered production and directing, as well as screen writing, so I got to try lots of different things. For my most recent project I decided to challenge myself to step out of my comfort zone and produce a short comedy!
In the future, I want to show people that even if something is difficult, people like me can still do it! I hope to have a say in increasing recognition for disabled people in the performance & film industries, particularly for those in on-screen roles.
Understanding Duchenne in Women
Duchenne is a rare disease caused by mutations in the gene for dystrophin, a protein which is vital to protect and strengthen muscles.[5] Dystrophin is encoded by the X-chromosome, meaning that males have one copy of the gene, whilst females have two. For this reason, females with a single dystrophin mutation tend to be asymptomatic carriers of Duchenne, as their second gene produces the functional protein. Those who are affected by a single gene mutation tend to exhibit cardiac symptoms only.1,5 In extremely rare cases, however, a woman’s second dystrophin gene is also mutated, or becomes inactive, allowing the disease to manifest.1,5
While the presence of Duchenne muscular dystrophy in men has a strong body of research behind it, there is a very little research on how it affects women.2 What is known is that 8% of female Duchenne carriers face varying levels of symptoms, that typically are less severe than in males.2 One of the primary differences, according to the limited reports on women with Duchenne, is that their muscular weakness is asymmetrical, and the onset of symptoms happens across a wide range of ages.2 Because the definition of Duchenne in women isn’t clear, recruitment and representation in clinical trials is impacted.
Despite the challenges of living with Duchenne, women can and have done incredible things. Lizanne has resiliently overcome challenges to fulfil her ambitions and hopes to encourage other women with Duchenne to do the same. Her goal is to increase recognition and representation for disabled people in the acting and film industries.
“Even if it is difficult, I want to show people like me CAN follow their passions”, Lizanne Schreur
If you would be interested in learning more about women in the Duchenne community and the impact they have, visit DuchenneCan.com
