Women and Duchenne

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.”