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
SickKids Hospital – Toronto, ON
Director, Sleep Medicine and Long-Term Ventilation
My name is Reshma Amin, and I am a pediatric respirologist and sleep physician and a clinician-investigator at the Hospital for Sick Children in Toronto, Canada. I have also been happily married to another physician for 16 years, and I am the proud mother of three amazing children: Ashwarya, 13; Yasmin, ten and Jai, four.
I grew up in a small town in northern Manitoba called Flin Flon. My dad was both a family physician and a general surgeon when I was growing up. He made an important difference in the lives of so many of his patients, and he was able to help and connect with them. Experiencing their gratitude firsthand when I was out with my dad during the evenings or on the weekends when he would bump into his patients inspired me to pursue a career in medicine. During medical school, I fell in love with the field of pediatrics. I really enjoyed caring for the infant/child/ teenager as well as their parents. I landed on a career in pediatric respirology as it offered a perfect blend of acute management, physiology and the ability to develop longitudinal relationships with patients and families.
I find DMD a particularly challenging disease to be involved with because most of these children are able to ambulate and then lose the ability to ambulate and develop subsequent respiratory disease. As a result, when they come to our clinic to start ventilation, there is a huge need to help support patients and families with managing a chronic disease first and a ventilator second. As such, I was drawn to Duchenne health specifically as there is a need to improve clinical care for this population. We need to best support adolescents with DMD to use their ventilators when they are needed. We also need to learn more about what is the best way to introduce conversations about ventilators to individuals with DMD and when and by who? As clinicians, we also need to evaluate the early versus the late introduction of ventilators with regards to clinical outcomes, given the significant impact use of ventilators has on patient and family quality of life.
What I enjoy the most about my work is the people. I work with a fantastic group of brilliant health professionals that are truly dedicated to the care of their patients. In addition, it is such a pleasure to be able to care for patients and their families and help manage their respiratory health, support their decision-making and assist with using technology at home. No two clinics are ever the same because of the unique experience each patient brings
With clinical trials for gene therapy and other disease-modifying therapies- there has never been a more exciting time to be a clinician and/or researcher in the field of Duchenne healthcare. The field needs young, bright individuals to enter this field. So my advice to women looking to pursue a career in Duchenne Muscular Dystrophy is……Just Do It!!
Dr. Jackie Chiang
SickKids Hospital – Toronto, ON
Paediatric Respirologist, Division of Respiratory Medicine
My name is Jackie Chiang, and I am a pediatric respirologist at SickKids hospital in Toronto, Ontario. Before transitioning to SickKids full-time, I held a joint appointment and worked at Holland Bloorview Kids Rehab Hospital for six years. In addition, I am a mom to one hilarious and sweet 10-year-old boy
I knew fairly early in my medical training that I wanted to work with children and pursue a specialty in Pediatrics. Respiratory medicine came as a bit of a surprise but appealed to me because I enjoyed learning about the physiology of breathing as well as the procedural and technological aspects of this field. Now I am one of two physicians in the Long-term Ventilation (LTV) program at SickKids, caring for children with neuromuscular conditions who require respiratory support, including those with Duchenne muscular dystrophy.
Having initially worked at Holland Bloorview, I had the privilege of joining the Neuromuscular clinic and caring for individuals with Duchenne muscular dystrophy. This was my first exposure as a staff respirologist to patients with Duchenne muscular dystrophy. I was in awe of the strength, resilience and advocacy skills these families had for their children. I knew that I wanted to continue working in Duchenne health care and hopefully help develop best respiratory practices to support the ongoing health of patients with Duchenne muscular dystrophy.
We currently care for approximately 75-80 children with Duchenne muscular dystrophy in our SickKids LTV program.
I really enjoy building relationships with patients, families, and my colleagues.
I think the best part of my job is getting to know families well, particularly their perspectives and what their goals are. Having a good rapport really improves and strengthens the health care relationship and allows us to truly understand how we can best support these children and their families.
I would, of course, say to go for it. It’s been an honour to work in this area, and I can guarantee you won’t regret it!
Women as Mothers
Mother of 15-year-old, Emery
Message to other Duchenne moms:
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
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.
Ruby is the youngest of four children. Her parents emigrated from India before she was born and settled in Edmonton, Alberta. Ruby has Duchenne muscular dystrophy and is now 39 years old, living with her husband, two dogs and their cat in Red Deer, Alberta:
“As a child, I displayed typical symptoms of Duchenne – enlarged claves, difficulty getting up from the floor, difficulty with climbing stairs, and walking on my tippy toes. It didn’t stop me from participating in various sports; however, I always noticed I ran differently than my peers. On and off pain in my early teens led me to the doctor, and I was diagnosed with tendonitis and growing pains.
When I was 18, I was advised I needed an Achilles tendon lengthening. When I walked into the surgeon’s office, he noticed something was not quite right. I remember him asking what I wanted to do with my life. I had just gotten my acceptance letter into nursing school. I was enthusiastic about starting the next chapter of my life when he told me to change my career path, as it would never work. This was devastating news.
Eventually, I was able to see a Neurologist who performed a muscle biopsy and diagnosed me with Duchenne muscular dystrophy, which was almost unheard of in women. I was 19 years old and had no idea what this diagnosis meant to me, for my future, my dream to have a family, my career. I could never have imagined how much this diagnosis would change my life. I avoided it at first – feelings of uncertainty about the future hold and worries of being a burden on my loved ones.
This diagnosis has forced me to be adaptable to this constantly changing condition.
As with everyone, I have good days and bad, losing strength, falls, and injuries, as well as effects on mental health. As the condition progresses, I fight the urge to isolate myself as socializing can sometimes cause anxiety thinking about mobility, accessibility, and social acceptance. Constantly losing abilities I once had, led to a feeling of being disheartened. I dreamt of having a family of my own for as far back as I can remember. This diagnosis made me second guess that dream. It was an emotional journey over many years but eventually lead to a decision not to have my own children due to the uncertainty of my future and condition progression. Instead, we found another way to build a family with a little more hair when we found Elkhounds Stella and Ragner and our cat Gary. Although I am no closer to knowing what the future holds, I try to keep a positive outlook and push myself to enjoy life to the fullest.
I obtained my Bachelor of Science in Nursing when I was 24 years old and worked as a Pediatric Nurse for 13 years. Though I can no longer work on the clinic floor, I continue to maintain my license and work in other, less physically demanding areas of nursing.
Some of my hobbies include cooking, gardening and travelling. Although these hobbies are becoming more difficult with each passing day, I always make sure to find ways to continue. So far, this has included using more mobility aids, adapting my garden beds and making sure I plan to travel with accessibility in mind. I try to remember that I can still do the things I love; it might just look a little different.
I continue to see my care team in Calgary, travelling a few times a year for tests and appointments. I have not been on medication yet, and I’m starting to explore using physical aids to help me continue with my passion for travelling the world.
I have searched high and low for clinical trials, trying to participate in any studies that may benefit me; however, since girls with Duchenne are so rare, I have not been able to participate in any trials to date. I keep my eye on the latest research, and even though participation seems unlikely, I am still hopeful. I was able to find a medication specific to my exon error, however, due to the medication not yet being approved by Health Canada, funding has remained a barrier.
The feelings I had when I was first diagnosed of uncertainty, isolation, embarrassment, frustration, fear of the unknown, loss and angst have continued to come up as the condition progresses. These feelings come up daily, for example, the day I realized I could not safely hold my friend’s children, or when I realized the impossible task of picking myself up off the ground without assistance or when you are asked if you really need the handicap parking space as you look “too young” to need it or every day when I lose a little more independence. I work daily to fight these feelings and surrounded myself with an amazing support system who have helped lift my spirits every step of the way.
I know that life could be much more complex and likely will get more difficult as the condition progresses.
I know I am so fortunate to have been born in this county, in this family, in this time.
I am optimistic about the future, and with the support of my husband, family and friends, I can challenge myself and experience more of this world.”
Women as Carriers
Mother of 14-Year old, James and Carrier of Duchenne muscular dystrophy
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.
Karen is a 55-year-old Duchenne muscular dystrophy carrier who has four children and lives with his husband, Duane, in Petawawa, Ontario:
“My journey started in 1971 when my brother, Kevin, was diagnosed with Duchenne muscular dystrophy, and those words became part of my everyday life.
Instead of allowing fear to take over, my mother was very proactive in doing whatever she could for our family, including genetic testing for me and my two older sisters. I was six when my parents told us that the tests came back positive – we were all carriers of the gene that causes Duchenne muscular dystrophy.
As a six-year-old child, I didn’t know what to think and wasn’t overly concerned (what six-year-old would even give it a second thought!). I just knew I had been labelled as a carrier, and as I began to grow, the label had little impact on my physical health. I played sports in high school, completed Army officer training and ran a few endurance races without serious health consequences.
When I was younger, I wasn’t going to have children: clearly, that was not the case. It wasn’t until I was ready to consider family planning that this label came back into my life.
During my first pregnancy, I had to fly from Shilo, Manitoba, to Toronto, Ontario, for chorionic villus sampling (CVS) – a prenatal test to check for genetic or chromosomal conditions. After a complicated and exhausting process, the specialist called to tell me I was having a girl but didn’t test any further.
During my second pregnancy, I had CVS testing once again. I hadn’t known the sex of the baby before my appointment, and I’ll never forget the day the staff called to tell me that the gene was present, and it was a boy.
It was a bit of a shock, and I cried after I got off the phone. At that point, you have two choices: you can wallow in self-pity or take the time to mourn the loss of the future you had in mind and move forward. I chose option two, picked myself up, and accepted the new reality. My son, James, didn’t need a mom who couldn’t handle it; he needed a mom who would be there for him and give him the best life he could have.
Emotionally, being a carrier can be a roller coaster.
When we decided to have a second child together, I told Duane precisely the risk. I also asked him what we would do if we had a boy with Duchenne. He said: “we will have a baby, and we will deal with Duchenne if and when that happens.”
Although I wish James did not have Duchenne, I wouldn’t trade him for the world. He matters; our family matters and wouldn’t be the same without him. Do I question myself about the choices we’ve made? Of course, I do, and the answer is that James is one of the most incredible people anyone could ever know. The impact that he has had on the people around him is very positive.
In 2018, I connected with Nicola Worsfold, and she introduced me to Jesse’s Journey – now Defeat Duchenne Canada.
We all want a cure, and Defeat Duchenne Canada provides funding for research specific to Duchenne muscular dystrophy. They also provide a monthly forum for parents across Canada to connect, which helps us know that we’re not alone.
By reading my story, I hope others will learn that perseverance is essential in the face of adversity. I hope they will understand that my/our choices are mine/ours. Risks are inherent in being a carrier for the DMD gene, and you have to decide if the benefit of potentially having a child with Duchenne outweighs the risk. Clearly, I believe we are better for having James in our lives than not.
I will leave you with this. Even in my brother’s short life with Duchenne, he greatly influenced my thinking and decisions. When my sisters and I discovered we were carriers, my mother asked the doctor what could be done to deal with the disease. His answer, which he said in front of my brother, was that we could be tested, and if the gene was present in our pregnancy, we could terminate and try again. Kevin understood exactly what that meant and was angry at insinuating that he shouldn’t be here – that he shouldn’t be alive. Later on, when he was in the hospital with complications from the flu, he told my mother that no matter what happened, he was glad he was born. I still have great memories of my brother and look forward to making great memories with my son, James, for years to come.
Women in Science
Dr. Natasha Chang
McGill University – Montreal, QC
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.
McGill University – Montreal, QC
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.