World Duchenne Awareness Day 2022: #WomenAndDuchenne
Each year, World Duchenne Awareness Day highlights a special theme for further education. This year that theme is Women & Duchenne to raise awareness about females living with ‘dystrophinopathy’ (the spectrum of muscle diseases that are caused by a change in the dystrophin gene), provide information and resources for carriers, and spotlight the female caregiver experience.
We encourage you to share your story as a girl or woman with Duchenne, a carrier, mother, caregiver, partner or sibling of a person living with Duchenne or a woman professionally working in the field of Duchenne. You can write your story and add photos, or record your experience. Publish your story on social media with the hashtag #WomenAndDuchenne to join the global community in raising awareness.
Pat Furlong: My Story as a Mom, Finding the Power of ‘Us’
I knew something was wrong. I watched as other children played. Christopher and Patrick did not move in the same way.
I asked our family doctor. He predicted they would be ‘big boys, like their father, play football…. Just look at those calf muscles’. He smiled and said I was just a worried mother. Everything was fine.
The kindergarten teacher suggested we needed to encourage Chris to be more active. It wasn’t that he did not have a Big Wheel or a tricycle…. He seemed uninterested. We bought a yoga mat and we practiced doing summersaults.
The nursery school teacher said Patrick was ‘shy,’ reluctant to participate in physical activities. We wondered about this descriptor when ‘shy’ was certainly not his behavior with family or friends. He was our loud and silly boy.
The moms in our neighborhood gathered most evenings as the children played outside, playing with their Big Wheels. We encouraged Chris to ride that night, and he began to pedal. Suddenly he cried out in pain, apparently injuring his Achilles tendon. We carried him home. The next day we went to see a physician friend, an orthopedic surgeon.
He met us in the waiting room, took one look at Chris, looked down at the floor and said ‘Duchenne muscular dystrophy’ followed by a textbook description of the disease.
Words such as ‘lose the ability to walk, to move his arms’ and ‘fatal’ tumbled out of his mouth…
‘Then you have two with Duchenne.’
The sound of those words, deafening. Where do we go, what is the treatment, I managed to say as tears flowed.
‘Nothing to do, no treatment.‘
The visit was over.
By the time I arrived home, the neighbors knew. Someone from his office had called someone. The neighbors were in shock.
The Furlong Family. Devastated… Alone… Isolated… Grieving.
The picture of the life we had planned crumbled. Our hopes, our dreams, our plans were no more. I could not imagine how we would survive this news. I wondered if we would ever find a reason to laugh, to find joy. I saw no light, only darkness.
I remembered sitting with my father as a child, talking to him about my day. At the end of my story, he would smile and ask, ‘and then what happened?’
And then the feelings of fear, pain, grief, anger, became resolve. The need to do something, try something, fight for my family. The desire to enjoy the life we have been given and the moments we have. And together, find some light.
What happened next… Duchenne entered our lives.
It was our reality, but it would not dictate who we are and what we would become. We were and are a family who love each other, believe in each other, support each other. Each of us grieved, fell to our knees, and got up again and again. We leaned on each other and we drew strength from each other. And we smiled again. We found joy.
And then… we found others who shared our story, our experience, our wish for care and treatment to change the prediction that our family would fail.
We found our US and our collective voice to live fully and to change the world of Duchenne.
Live fully. Love generously. Care deeply. Speak kindly. And do something worth doing.