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Women and Duchenne

Women and Duchenne

Join Defeat Duchenne Canada and patient advocacy organizations worldwide to raise awareness of women and Duchenne muscular dystrophy.

As Duchenne muscular dystrophy is an X-chromosome-linked disease, the spotlight is – almost always – on boys and young men. However, it is estimated that around 1 in 50 million girls have Duchenne. It may be rare, but women are living with Duchenne.

September is Duchenne Awareness Month in Canada, and September 7 is World Duchenne Awareness Day. This year’s theme is ‘Women & Duchenne,’ and we’re highlighting Canadian stories from all aspects connected with Duchenne muscular dystrophy and the female world

Share the stories of these incredible women across your social media throughout September.

Women in Care and Clinical Trials

Dr. Reshma Amin

Dr. Reshma Amin

SickKids Hospital  – Toronto, ON
Director, Sleep Medicine and Long-Term Ventilation

Dr. Jackie Chaing

Dr. Jackie Chiang

SickKids Hospital – Toronto, ON
Paediatric Respirologist, Division of Respiratory Medicine

Women as Mothers

Kadey Schultz

Kadey Schultz

Toronto, ON
Mother of 15-year-old, Emery

Message to other Duchenne moms:
Nicola Worsfold

Nicola Worsfold

Toronto, ON
Mother of 15-year-old, Owen

Learn about Duchenne muscular dystrophy:

Watch their full conversation on what it’s like being a mom of a child with Duchenne muscular dystrophy:

Women Living with Duchenne

Ruby Dhatt-O'Leary

Ruby Dhatt-O’Leary

39-Years-Old living with Duchenne muscular dystrophy

Red Deer, Alberta

As Duchenne muscular dystrophy is an X-chromosome-linked disease, the spotlight is – almost always – on boys and young men. However, it is estimated that around 1 in 50 million girls have Duchenne. It may be rare, but there are women living with Duchenne.

A woman can have Duchenne when both of her X-chromosomes have a fault in the DMD gene. That means these girls and women will lack the critical protein dystrophin, resulting in similar clinical features as boys and young men.

Since Duchenne is very rare in women, the journey to diagnosis can be riddled with difficulties, delays and complexities. Primary care providers often do not consider Duchenne when they are trying to figure out why little girls are weak, have speech delays, or issues with balance. Plus, the lack of specialized care once diagnosed and exclusion from scientific studies and clinical trials result in a vicious cycle of exclusion and lack of understanding. That’s why Defeat Duchenne Canada is proud to join patient advocacy organizations around the world to shine a light on this important topic.

Women as Carriers

Karen Allen

Karen Allen

Mother of 14-Year old, James and Carrier of Duchenne muscular dystrophy

Petawawa, Ontario

As a genetic disorder, Duchenne muscular dystrophy can be passed down from parent to child.

The DMD gene that causes Duchenne muscular dystrophy is found on the X chromosome. When a change alters the X chromosome, females have a second copy to make up for it. However, they can pass on their altered X chromosome to their children. When a woman passes or “carries” this genetic mutation from one generation to the next, she is called a carrier and has a 50% (or 1 in 2) chance of passing it on to her son, resulting in Duchenne, or daughter, resulting in her becoming a carrier as well.

September is Duchenne Awareness Month and Defeat Duchenne Canada is proud to join patient advocacy organizations around the world to shine a light the genetic complexities of Duchenne muscular dystrophy, and how it affects women, like Karen.

Women in Science

Dr. Natasha Chang

Dr. Natasha Chang

McGill University – Montreal, QC
Assistant Professor

I am an Assistant Professor at McGill University in Montreal. My research journey started with summer internships in biochemistry labs during my undergraduate studies. I realized that I enjoyed the research process; the art of designing experiments to address scientific questions. I went on to pursue graduate training in cancer cell biology with the late Dr. Gordon Shore, where we identified a protein involved in controlling autophagy, an essential cell survival pathway. To expand my research skills and scientific knowledge, I changed fields for my post-doctoral training and focused on muscle stem cells and muscle regeneration with Dr. Michael Rudnicki.

I was fortunate to be in the Rudnicki lab at the same time that the lab discovered that muscle stem cells express dystrophin protein and that dystrophin plays an important role in muscle stem cell function. We showed that the dystrophin protein complex regulates the expression of genes important for muscle stem cell differentiation. Using mouse models of Duchenne muscular dystrophy, we found that the loss of dystrophin in muscle stem cells impairs the expression of these differentiation genes. These findings have influenced the way my research team views Duchenne as a disease that is caused by lack of dystrophin in the muscle stem cells as well as in the muscle fibers.

Currently, my lab is investigating how autophagy contributes to healthy muscle stem cell function and how stem cell autophagy is impacted within disease contexts such as Duchenne. We are also exploring ways of enhancing muscle stem cell function to treat muscle degeneration. The opportunity to make a difference in patients and families living with Duchenne and to contribute to this exciting area of research are the driving motivations behind my research program.

Within my research team, I am privileged to work with many talented trainees. I am enjoying living through the excitement of my trainees when an experiment yields an interesting result. When I am not in the lab, I am spending time with my family. My two young children ground me and keep me balanced. As a woman in science, my advice to other women looking to pursue a research career is to create a strong network of mentors that provide support and advice. Take the time to build a village that will help you succeed.

Romina Filippelli

Romina Filippelli

McGill University – Montreal, QC
Ph.D. student

My name is Romina Filippelli, and I am a current Ph.D. student in Dr. Natasha Chang’s lab at McGill in the Biochemistry department.

I was motivated to pursue a career in science due to an interest in studying innovative therapies for disease. I was inspired to study DMD due to an interest in stem cells throughout my undergrad education – Natasha’s muscle stem cell lab was the perfect place for me to explore my passion. I’m currently working on finding ways to restore endogenous muscle stem cell function in dystrophic muscle stem cells by examining their translational mechanisms. We utilize mouse models of DMD to test new stem cell-targeted therapies. I enjoy the curiosity and collaboration that comes with my work the most. I am always excited by unexpected outcomes during brainstorming sessions with my lab mates and collaborators – this is critical for pushing my project along.

For women seeking a career in science: I recommend you gather your resources and utilize them. As the first woman in my family to pursue science, as well as a Ph.D., I was not aware of the intricacies of academia before entering university. By reaching out to fellow women, seeking mentorship, and networking, I was able to push through my degree and achieve my goals. Community and connection is a gift that keeps on giving!

Watch their video of what it's like working in a Duchenne laboratory:

Take Action in September

Learn more about Duchenne Awareness Month and what you can do to raise awareness of women and Duchenne muscular dystrophy.