At age 15, Russell received a long-awaited diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD). After two years of seeing various specialists, wondering what could explain his symptoms, and constant invalidation from healthcare providers, Russell finally received an explanation for his pain and limitations. In some ways, Russell found relief in his diagnosis as he could finally explain his condition to others and seek appropriate accommodations in school and athletics. Yet, at the same time, facing a rare and progressive muscle disease at a young age was daunting and heartbreaking.
The hardest part of my diagnosis was that I had dysfunction, but I wasn’t honest with myself that I had limitations. And because I wasn’t honest with myself, I couldn’t be honest with others.
While coping with an FSHD diagnosis was challenging, Russell chose to channel his frustration into another avenue: advocacy. Russell dove in and decided to become an integral part of the FSHD community. As a high school volleyball player, Russell and his team founded an annual event to fundraise for FSHD research and raise awareness. Shortly after, Russell became connected with the FSHD Society, the world’s largest research-focused patient organization for FSHD. Russell is now an ambassador for the FSHD Society and connects with newly diagnosed people to share his journey with others his age.
When Russell reached college, he found new avenues to further his commitment as he gained experience researching muscular dystrophies in a laboratory, including FSHD and Duchenne muscular dystrophy. Motivated by a long and frustrating diagnostic journey, Russell is attending medical school with the hopes of using his platform as a future physician to elevate the voices of people living with rare diseases and to ensure that their needs are met.
One of the core reasons I wanted to go to medical school to become a doctor was to prevent others from experiencing the challenging diagnostic odyssey that I endured.
While Russell strives to maintain a positive outlook, he faces challenges with pain and everyday tasks. As a result, asking for accommodations has become a persistent component of his professional and personal life. In addition, explaining his condition can be emotionally exhausting as people often discredit his diagnosis because not all of his limitations are visible to others.
In a lot of ways, FSHD can be an invisible diagnosis. A lot of people don’t know from looking at me that I have a muscular dystrophy or that I have difficulties with certain tasks and aspects of daily living.
Despite these everyday challenges, Russell remains determined not to let FSHD weigh him down. Today, he enjoys hiking, fishing, reading, and traveling in his spare time. He is hopeful that soon there will be a treatment and ultimately, a cure for the condition. A few key ways Russell maintains a balance and manages his symptoms involve listening to his body and being conscious of certain parts of his body becoming overworked. Meeting with a physical therapist has been essential to achieving this balance while ensuring his actions are smart and safe. Sharing his practices and what has worked for him remains paramount as he connects with new patients and encourages them to keep moving forward.
Be honest with yourself and don’t give up hope. There’s research happening and there are things you can do to try to help yourself. You have to be your own advocate.
When former intensive care nurse Loraine, her daughter Kristl, and her unborn grandson, Zen, were all diagnosed with myotonic dystrophy type 1 (DM1), Loraine was determined not to let any valuable time pass before taking action to help her family. Pushing her own emotions aside, Loraine leant on her nursing experience to develop a comprehensive care plan and advocate for her family.
I knew that DM1 could be a very aggressive condition, so after my daughter, grandson, and I were diagnosed, I let my instinct as nurse take over and created a care plan to follow. I skipped over the grieving process because I knew I had to act immediately.
Managing Kristl’s symptoms over the years has been a challenge for Loraine while also trying to deal with her own symptoms. For Kristl it can be difficult to complete daily tasks such as dressing herself or washing her hair, and she also experiences challenges from cognitive issues that can affect her executive functioning and memory. As a result, after giving birth to Zen, Loraine became his guardian and primary caregiver. Although Loraine has dedicated herself to Zen’s care, she also carries the burden of suffering from several manifestations of DM1 herself, such as gastrointestinal issues, muscle weakness, respiratory concerns, and daytime sleepiness.
As Loraine and her loved ones continue to navigate their experiences with DM1, she expresses the importance in finding a physician who will take the time to listen and learn about each individual’s own challenges with the disease. Support groups have also proven extremely valuable and Loraine has taken a leadership role in the Orange County, California Myotonic Dystrophy Foundation Support Group.
I would advise doctors to help connect their patients with a DM1 support group immediately. Physicians aren’t trained to support patients emotionally and don’t truly understand the impact the disease has on their patient’s physical and mental well-being, which is why support groups are a really helpful resource.
Lee is the oldest of three children and has grown up in Texas with a pretty active childhood and loving parents. But, at a routine 7-year-old check up with Lee’s pediatrician, their doctor noticed that Lee’s ankles would not rotate like his younger sister’s. In a sudden whirlwind, Lee’s pediatrician referred him to a neurologist who would soon suggest he had muscular dystrophy. Before Lee’s parents could begin to process their emotions, their doctor delivered a heart- wrenching and bleak outlook. A few weeks later, a blood test officially confirmed Lee had Duchenne muscular dystrophy (DMD). With hardly any explanation and limited knowledge about Duchenne, Lee’s parents immediately felt overwhelmed and discouraged as they tried to make sense of their new reality.
There was no advice for clinical trials, no explanation of the difference between Duchenne and Becker, and no discussion that the trajectory for each patient is different. We got nothing.
Lee’s mother, Ginne, was quick to jump into researching Duchenne. Ginne has always been a go-getter, and facing Lee’s diagnosis was no different. She spent countless hours searching for possible treatment options for Duchenne. Her research led her to advocacy websites, Facebook groups, pharmaceutical and biotech websites, and upcoming clinical trials. Sorting through information was by no means an easy task, but the more Ginne learned about Duchenne, the more she felt empowered to advocate for Lee’s management and treatment plan, although, the journey was not without roadblocks. With limited treatment options for her son, Ginne found a clinical trial opportunity she felt offered hope for Lee’s condition. However, as their family began to regain hope, they were again disheartened to learn that part of Lee’s condition excluded him from the clinical trial.
Thankfully, Ginne has found a community of hope and support in Duchenne advocacy and online groups. Not only has she connected with other Duchenne parents, but the community has also bonded over sharing updates on exciting new research and upcoming patient treatment options. For Ginne, the support groups are a place of therapy, friendship, and hope.
Duchenne is a marathon, so having support groups to lean on and hope for future treatments is essential.
At only 11 years old, Lee has so much to manage on a day-to-day basis. Each morning before school, he takes cocktails of different medications to manage the physical and emotional symptoms of Duchenne. In the afternoon, he has a physical therapy session to stretch his muscles twice a week. In the evening, he puts on ankle-foot orthotics (AFOs) to sleep in and receives an additional medication injection. On top of his daily care, he also visits an out-of-state neurologist every six months, in addition to several other specialists, including a pulmonologist, cardiologist, and endocrinologist.
Lee has had more blood draws than any eleven-year-old I know. He also completes a cardiac MRI every year, which is no easy task for anyone.
On top of the many physical challenges of living with Duchenne, Lee faces the typical challenges of being an 11-year-old boy. As Lee gets older, he struggles to keep up in height with his peers. Although steroids are important in managing Lee’s condition, they also limit his height. Mentally, this is very difficult for Lee as his friends and classmates start to hit their growth spurts. At the same time, he struggles to run as fast as other kids his age and keep up with his friends during recess.
Yet, despite Lee’s frustrations, he remains incredibly brave and still finds time for his favorite activities. Lee loves to play outside, just like most other kids. He enjoys participating on the school’s golf team. Another favorite pastime for Lee is recreational swimming. At night, he calls his friends to compete in video games like Roblox. Ginne tries to do as much as she can to keep Lee’s life as comfortable and normal as possible – he even learned to ride a bike which is an important victory for a child battling Duchenne.
He continues to amaze me every day with his strength to push through challenges no child should have to deal with.
Today, Ginne encourages other caregivers to avoid getting caught up in historical disease projections. While a diagnosis is undeniably frightening, no boy will have the same experience as another, and there is a broad spectrum of experiences. In addition, there is so much to be hopeful for as clinical trials open and potential treatment options expand.
I hope Lee gets into a clinical trial. I hope he produces dystrophin. I hope he can lower his steroid dosage. I hope he runs across the stage at graduation. I hope his generation of boys will have a brighter outlook in the face of Duchenne.
Throughout Nathan’s early childhood months, Brad and Misty noticed that their son was delayed in hitting many milestones that every parent looks forward to – sitting up, rolling, walking, and beginning to talk. After a visit with a physical therapist who noted the large size of Nathan’s calves, they were directed to a pediatric neurologist who diagnosed Nathan with Duchenne Muscular Dystrophy (DMD) – a progressive, rare genetic neuromuscular disorder which affects the skeletal, heart and breathing muscles in young boys.
Receiving Nathan’s diagnosis and learning about DMD was really tough. When you become a parent, you have many hopes and dreams for your child and what their life will be like, and this diagnosis robbed us of so much of that.
Nathan, now 6, has a team of doctors in place to help manage the disease and his symptoms. Every 6 months he goes to a clinic to see a physical therapist, occupational therapist, pulmonologist, cardiologist, social worker, and dietician. The main thing that Nathan’s lead doctor advises, is to let Nathan be a kid as much as possible.
We do as much as we can to let Nathan be a kid, but it can be overwhelming planning for all the considerations needed that allow him to partake in life like other boys his age. We have to limit his activity and encourage him to take breaks as his legs become sore and tired out quickly. We carry Nathan up and down sets of stairs and he is pulled around in a wagon to help him get around his elementary school.
As Nathan’s parents and caregivers, Brad and Misty play a vital role in not only taking care of Nathan, but being his advocate. There are many different paths to take when it comes to considering treatment options or clinical trials and it can be overwhelming to know what the right answer is and how it will impact Nathan down the road. It can also be isolating at times to not have a support system in place.
There are lots of great resources out there for families whose loved ones are living with DMD, but I wish we had more opportunities to connect with people in the DMD community locally. It’s not always easy for others to understand what we’re going through, and you can feel completely alone at times.
Brad stays hopeful through the work he does with different DMD advocacy groups and organizations, talking to and educating others about DMD and making as many memories as he can with his family. Brad is motivated by his son and hopes that by making just one more person knowledgeable about DMD it can help to spread awareness of the disease.
My advice to any other family dealing with this is to take it day by day, do as much research as possible, and connect with others. I hope that someday there will be a cure for DMD, and no other family will have to go through this.
When Karin noticed herself tripping frequently, her doctor sent her to a neurologist who diagnosed her with myotonic dystrophy type 1 (DM1) through genetic testing. This was challenging news for Karin to acknowledge and accept, and, at the time, she didn’t know where to turn for answers or what her diagnosis meant for her family — which still weighs heavily on her mind.
I worry the most about my children because I don’t want DM1 to affect their lives, as it has mine. We discuss the importance of genetic testing, but ultimately it is their decision to be tested for DM1 as young adults and I hope they will choose to do so soon.
Over the years, her disease has significantly worsened, and today, Karin is frustrated by her lack of independence. She frequently needs help with once-simple tasks and has had to modify her daily routine to accommodate for her progressive muscle weakness and low energy levels. Karin also suffers from frequent stomach distress, overwhelming fatigue, arrhythmia, and balance and mobility issues.
I’m getting a lot weaker—I can barely lift anything because my arms are so weak, and my balance continues to decline. I constantly worry about falling and injuring myself. I have to rely on my family’s help a lot more often than I used to.
Her family has been an important source of support over the years, helping her navigate her various doctor’s appointments and accompanying her to support group meetings. Karin is thankful that she has a great multidisciplinary medical team surrounding her and has found much enjoyment from the community she’s gained from her Myotonic Dystrophy Foundation support group.
I really enjoy going to my support group. I think it’s hard for many people to understand DM1 because of the spectrum of symptoms that people affected experience, so it’s helpful to be with people who really understand, empathize and can provide support and knowledge.
Karin has been motivated by her family to maintain a positive outlook and live the best life she possibly can. She’s hopeful for the future, including one day having DM1 treatments for herself, her family and the entire DM1 community.
I don’t want to focus on the negative or unknown that comes along with my diagnosis—it’s not worth it. As long as I’m here, I want to live the best life possible.
Facioscapulohumeral muscular dystrophy (FSHD), a rare genetic disorder that leads to the progressive and variable weakening of skeletal muscles, has been in Amy’s family for at least three generations on her father’s side. Growing up, it was frightening for Amy to watch her father’s body change as his symptoms progressively worsened, causing him to be wheelchair bound and unable to care for himself by age 40.
My dad had very severe FSHD, so I was aware of the condition fairly early in my life and was always on the lookout for symptoms. It was extremely difficult watching my father suffer from FSHD and I knew that I could one day experience the same challenges from this disease.
In her late twenties, Amy went to see a neurologist, who diagnosed her with FSHD by electromyogram (EMG). This was a devastating diagnosis for Amy, who believed she would follow her father’s health trajectory, and she had to quickly learn how to advocate for herself and manage her condition day to day.
When I’m meeting with any new doctor or specialist, I look at it like I’m interviewing them. I don’t expect them to be 100% aware of a rare disease, but I do expect that they are willing to listen and learn, and if they are open to that then I am willing to stick with them and help educate them.
Today, in her late 60s, Amy struggles to maintain her independence. Amy relies on the assistance of a home care aid to help with daily activities and has installed a stair lift, ramps and rails in her home to make it more accessible. As a once avid golfer and talented artist, Amy’s disease progression has caused her to give up these activities that had brought her so much joy.
You’ve got to be a warrior because FSHD is unrelenting. It’s a constant loss of ability. There are many times when I feel like Alice in Wonderland falling down the rabbit hole, and I don’t quite know where the bottom is—I haven’t landed.
Amy never knows where she will stand from one day to the next, which can be a constant struggle, both physically and emotionally. However, Amy works hard to remain positive and approach life with humor and gratitude. She gives back to the FSHD community, a group she now calls her family, as the director of the San Diego chapter of the FSHD Society and director of their national board.
When Luke turned 10, his father Karl started to notice that Luke was developing more slowly than other children his age. The next 6 years became an exhausting cycle of visiting different specialists, until a pediatric neurologist diagnosed Luke with myotonic dystrophy—a rare, progressive disease that impacts several systems in the body, including skeletal and cardiac muscle.
It takes time to get an accurate diagnosis unless you see a specialist who has come across myotonic dystrophy before. There are a lot of different symptoms of this condition, and it takes someone who has the specific knowledge and experience to put it all together. You have to persist and advocate for yourself and family to get the answers you need.Karl, Luke’s father and caregiver.
Although Luke’s diagnosis ended the guesswork about his condition, it meant significant changes to his lifestyle. In high school, Luke ran cross-country; however, after his diagnosis, Luke soon chose to discontinue the sport as it was too taxing on his body.
For Karl, Luke’s diagnosis was devastating. He recognized the impact this condition would have on his son’s future, and it was painful to consider that Luke wouldn’t have the same opportunities as other people his age. Despite these feelings, Luke’s diagnosis allowed Karl to readjust his expectations and develop an optimal disease management and care plan.
Getting the diagnosis of myotonic dystrophy was life-changing—all of the sudden it connected all the dots. This diagnosis helped me to better understand how to support and be there for Luke and to make sure he is living as full a life as possible.Karl
Today, in his early 20s, Luke suffers from muscle weakness, fatigue, memory challenges, and significant shifts in his eating habits. For Karl, it’s often a struggle to ensure that Luke meets his nutritional needs. Luke finds strength in the support of his family and is passionate about dedicating his time to help educate others about DM1 with the goal of advancing care for the entire community.
One piece of advice I would give to someone newly diagnosed with myotonic dystrophy is to not let it interfere with your life goals and to stay positive. Don’t let myotonic dystrophy weigh you down.Luke, living with myotonic dystrophy