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.

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.

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.

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.

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.