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.

Over the past few years, our Duchenne community has worked to keep connections alive during isolating times. One group of women – from caregivers to clinicians and industry representatives — came together to share their stories and explore the language of medicine and many aspects of care surrounding Duchenne. What started off as a way to connect casually has developed into a project that will expand and most certainly help guide programs for women, mothers, caregivers, carriers and those females living with Duchenne. Here are just a few of their stories.

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.

Alison Ballard, CPNP: My Story As a Clinical Coordinator

My first day as the clinical coordinator and nurse practitioner in the neuromuscular clinic was ten years ago, but I recall that day vividly. A tenured medical team member led me down the hall to meet a patient and their family, explaining along the way that the best way to learn about the patient’s diagnosis and understand the role each member of the medical team played was to spend the day with one patient.

I was terrified, while I had been a nurse practitioner for nearly 10 years, my background was in cardiac transplantation, neuromuscular was new to me. I was accustomed to being part of a team of experts, experts with clear protocols and a proven set of treatment scenarios, experts that guided patients and their families.

I quickly learned that was not the case with Duchenne. The patient and the family were the experts; they were the ones learning how to live with the disease and how to navigate the world. During that visit we talked about school accommodations, transportation issues, home modifications, equipment needs, and medication side effects, and somewhere in that sea of a visit, I got to know this patient and family and all their fears, hopes and dreams.

Since that first day I have continued to learn, not only the medical side of Duchenne, but the human side as well. I am honored to accompany my patients and their family members on their journey, working together to find ways to make their lives better.

Gretchen Egner: My Story as a Caregiver

Having a son with Duchenne forced me to pay attention to details: the meds, the itineraries, the supplies, the transportation, etc.–but it’s also given me a keener focus on people. When Nick was first diagnosed and for several years after, friends and fellow parents felt badly for me, grateful that their children were “normal”, “healthy”. I felt a little badly for me, too. But self-pity isn’t a good look for anyone, so I’ve strived to give Nick his independence and give Duchenne a supporting rather than starring role in our lives. 

That switch–acknowledging and attending to the presence of DMD without keeping it center stage in the spotlight–allows me to fully engage in conversations with others, to empathize and validate their struggles without reflexively pivoting back to mine. Everyone struggles. I teach high school English in a fairly high-poverty district, and some of my students face some pretty daunting obstacles to academic and career success. I want them to see how I try to matter-of-factly deal with stressors and maintain levity in the face of uncertainty.

I am so grateful to Pat Furlong and PPMD for steadfastly advocating for improved care, research, treatments, and quality of life for those affected by Duchenne. Through this organization I have met so many folks, some I count among my closest friends. Being a part of this community makes me a better mom, stronger advocate, more competent teacher, and more compassionate friend.

Jennifer Driscoll: My Story as a Caregiver

Coxswain a boat. Go to prom. Grow a beard. Kiss a girl. Break curfew. Drive a boat. Drive a car. Graduate from high school. Get drunk. Go away to college. Follow a passion. Live in an apartment. Work at Merrill Lynch.

My daily personal challenge is to focus on these positives. I wake up every morning and willfully remind myself of all of the amazing things that two of my favorite people in the world have accomplished. I am grateful to have watched my boys do many of the things we all want our kids to experience: vignettes of normal life. Maybe they did not look the same as they do for people who do not live with Duchenne, but maybe that’s what turned these ordinary moments into not just milestones but miracles. And looking at these joys helps me wade through the electric toilet lift, cataract surgery, broken bones from minor slips, infusions, cardiac MRIs, daily medication, researching heart failure specialists.

We as parents share a deep connection; the list is long of what we endure together. But, I fall back on hope as I continue to learn, face new chapters and trust that our family’s journey with Duchenne will transition to my sons’ journey. I have to believe that they will continue to gain more independence, develop their own perspective on this life, and be able to make the decisions that keep them healthy and happy.

Every morning, my husband says “Carpe Diem” as he jumps out of bed. Although we all know it’s not always easy to seize the day, the world of Duchenne is becoming more hopeful with each new technical advancement, drug trial, medical breakthrough, new day. But maybe most importantly, the fear of life with this disease is replaced by hope because of the strength and support we can provide to each other. We owe it to ourselves and to our boys to find joy and keep celebrating their unique paths through the life they have been given. Maybe choosing hope is the only choice we have.

K.M.: My Story as a Caregiver

The Duchenne diagnosis affects each family, and within each family, each member so profoundly and differently. It has been three years since our son, Sammy, was diagnosed with Duchenne. Through the sadness and uncertainty, my husband, myself, and our three children are searching for our paths with Duchenne as our constant companion. Sometimes it feels like we’re all riding the same train, going the same direction, and other times it feels like we are all going our different ways.

Each member in our family has incorporated Sammy’s diagnosis differently. Amazingly, our eldest daughter remembers every day that he experiences life differently. Growing up, she mainly knew him as the wild younger brother who was born after she’d left for elementary school. For Sammy, she pauses, putting aside her busy high school life, to sit through long family dinners and game nights. Outside her family and school lives, she’s devoted to an organization that is fighting racism and ableism in our communities. She is trying to make the world a more accessible and accepting place for people of all disabilities.

Our middle daughter was in 7th grade when we learned of Sammy’s diagnosis. She was and still is a second mom to him. She played with and took care of him every day when they were young, and she feels deeply responsible for him. She was so angry when she learned the news, and would not accept this diagnosis for her baby brother. Her parents disappeared into the depths and spent their days researching doctors, therapies, searching for answers and hope, which left her feeling abandoned. Today, she is more accepting but sadder, and searching for her path. Medicine and science are her academic interests. And one day, she will make an impact in her own unique way.

Sammy wakes up each morning with a sweet, peaceful smile on his face. The grumpy adolescent demeanor hasn’t set in… yet. He promised me when he was 3 that he wouldn’t change – wouldn’t grow taller or bigger. He was so sweet to make such a promise and when he got bigger, he’d apologize, “Momma, I’m sorry. I couldn’t help it!” He lives with Duchenne, an experience none of the rest of us will have. He is our hero. He always gives his best effort at the doctor’s offices. He told a nurse recently that the trial he was volunteering for was going to help others with Duchenne. His optimism, generosity, adaptability and resilience give us hope that he will live life to his fullest and pour his energy into all the wonderful things he can do.

As Sammy’s parents, we, of course, feel the weight of Duchenne every morning as we rise from bed. We feel the urgency of time. Time passed and opportunities lost. We want the same things for Sammy that other parents do for their children – strong friendships, teachers that engage him, competence, confidence, finding things he loves, and much more. And we try to provide him with the best care possible – physical therapy, stretching, tests, supplements, appointments, trials, etc. One of the biggest challenges is straddling these two worlds – the world in which Sammy can fully participate, where our daughters mainly live, and life with the physical challenges. Sammy is a child first, and person with a medical condition second. But we can’t always honor our priorities and we make difficult choices. In other instances, our daughters come to us with problems that feel catastrophic to them. It’s too easy for us to dismiss them as minor and fleeting, all relative to Duchenne.

Oftentimes, I don’t feel like I’m living with Duchenne that way I should or want or changes happen and I realize I need to adapt. I keep reminding myself that there is no right path, that there’s the path I choose with the choices and limitations that I have. And my hope for our family is that although each of us are on separate journeys, we are united by our desire to each live rich and full lives, even with Duchenne as our unrelenting and unwelcome companion.

DR. MENA SCAVINA: MY STORY AS A CLINICIAN

Collaborating with PPMD as a neurologist in a Certified Care Center, and as part of the Clinical Care Team, I have had the privilege of meeting women whose children have Duchenne, nurses and coordinators from Certified Centers throughout the country, PPMD staff, and representatives from the pharmaceutical industry. After years of caring for individuals with Duchenne, I thought I understood many of the challenges families face but realize I have only scratched the surface.

Working with PPMD and extending my experience outside of the clinic, I have had the opportunity to hear from mothers and what it was like when their child was diagnosed, what words were used then and throughout their medical journey, and how those words have impacted their outlook.

I have also learned about the ripple effect on their relationships, their career goals, and their own health. At the same time, I have a better understanding of their superpowers, what they strive for, and the hopes they have for their sons, their families, and themselves.

As a provider, being part of a larger network of women and families has emphasized for me, the importance of choosing better words, asking about those superpowers, hopes and goals, and providing encouragement and support in addition to a list of prescriptions and tasks.

Rasha Alnaibari: My Story of Diagnosis

He was 6 months old and something felt off. I couldn’t pinpoint it so I would always linger at doctor visits hoping knowledge would rub off and the right question/language would reveal itself. I always pressed pediatricians for reassurance asking if they were sure nothing was wrong.

As milestones went by and were not met the gnawing inside wouldn’t fade. I would rush to the doctor’s office when he had the slightest sniffle and was the first there for his vaccinations. Always praying hoping the right question(s), language would come to me. I took him to developmental doctors, specialized pediatricians, orthopedic doctor and surgeon, physiotherapist, and occupational therapist. My concerns were always dismissed because I didn’t have the right questions.

Two years into this quest for “medical” insights my husband whispered, you need to stop looking for what’s not there. My family and friends echoed the same. So I did. I stopped, I deflated, and I cried with guilt for not believing in my beautiful boy.

A week later at a play date with other kids he looked up at me from a 130 degree angle — he was almost 3 at the time — and asked with his adorable squeaky voice, “Mama why cant I jump like them?” and pointed a teeny tiny finger at the playdate friends. There and then the peace treaty I negotiated with myself shattered. My world plunged into darkness again.

This time I kept outwardly quiet, but inside me there was a dark storm was rebrewing. I sneakily did internet search for his “symptoms,” but I didn’t know what to search for… I typed and untyped. I stared at the screen for hours. I Googled: “My child can’t jump” and a dozen articles appeared about fear of jumping. The questions/ language eluded me.

With time I would cautiously bring up a less anxious version of my concerns to close friends but still they all looked at me like I was crazy. I didn’t know what I was looking for or at, and the gnawing grew. I felt so much guilt for a million reasons, but mostly for my failed motherhood.

During all the google/discussion flops, some bad infections had come and gone and we found ourselves celebrating his 3rd birthday at the ENT. He had tonsillitis! I bizarrely felt excited, could it be as simple as that, his tonsils were inflamed and causing all the issues? What a relief … for a nanosecond a warm feeling shattered all the built up anxiety.

That same day, in prep for the tonsillectomy procedure, we met a young physician, she asked: “Can he jump?” Suddenly the world both slowed down and became super quiet. My jaw fell, and my heart started hammering. All that mattered were the words coming out of her mouth. “May I examine him” and I nodded as I felt the throat lump. She dropped a pen and asked him sweetly to pick it up, he looked up at her with his big brown eyes, looked at me I forced a smile and he sat on the floor and tried to get up with the pen and there and then we all saw what I hadn’t able to verbalize for over 2 years and it was clear and evident. He awkwardly tried to stand up and put his hands on his knees to aide himself like an aging senior.

Glances were exchanged between the doctor, myself, and my husband. Some labs were ordered, blood was drawn and off we went to wait at home under the darkest of clouds. A couple of hours later we got the call… she said his CK was massively elevated. She advised us to see a neuromuscular specialist immediately.

Finally I knew what to search for. We googled elevated CK and there it was the worst word in the English language. The word I had been seeking for over 2 years but never ever wanted to hear. Duchenne.

Fast forward many years later and I’ve sadly heard my exact story from multiple moms from different backgrounds and countries around the world. Identical stories of a mother’s instinct, and determination to find answers for her son(s). Moms from all walks of life that were doubted and undermined but fiercely determined to defend their sons. I’m lucky to call these amazing women my friends, mentors, and sisters.

Siobahn Fitzgerald: My Story as an Industry Representative

Throughout the pandemic, the world was like a sock on a continuous infinity loop turning inside-out and back again. That’s the way it felt to me at least, as businesses, schools, churches, banks, and all the rest scampered for ways to virtually enter peoples’ homes instead of inviting us into their buildings. When I think back to the early days of the pandemic, I can see a film clip in my head in which the characters do everything in fast reverse with carnival-like music playing in the background. I know I have seen a clip like this somewhere. The Monkees? Benny Hill? Even I’m amazed by my dated references!

Amidst that confusion, a riot of new voices would enter my personal and work world. I was invited to join a group of people — all women it turns out — virtually on Wednesday nights to talk about the language we use in the world of Duchenne. Everyone on these calls had a connection to Duchenne, and in my case the connection is through my work in the biotech industry. I work at Sarepta Therapeutics, and I am a lucky member of a team of people who get to share the status of our development programs with the community as we engage with Advocacy leaders and the community regularly. Importantly, our team carries insights from the community to the company to inform our decision making on an ongoing basis. My answer to this invitation was simple, of course I wanted to do this!

We brought each layer of our identities to the group on a weekly basis from our universes of motherhood, healthcare, industry, and advocacy, and I can tell you that I never wanted to miss a gathering. I wish I could show you an agreeable glossary that was formed by this mighty group – some kind of approved word list that we could write on index cards and memorize. Pre-approved words may somehow betray the uniqueness of perspective, the color, texture, context, and intensely personal provocation that can lurk within each word or theme.

I remember moments of sincere, face-hurting laughter, and I remember fighting cases of the weeps – nobody can see tears on Zoom, right? The most important and enduring take away for me is the connection. Connection, and my ever-deepening respect for these wise women of Wednesday and their experience in the face of Duchenne. Each of them taught me something that I recall in my heart and mind in some of my fiercest and quietest moments. Now when I think back to Wednesday nights during the pandemic, I still hear the carnival music, but the characters move with purpose, marching, racing, skipping, driving, laughing, and always in forward motion.

I am thankful to PPMD (Parent Project Muscular Dystrophy) for the opportunity, and grateful to this group of women for ensuring that the circle was large enough to include me.