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.
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.
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
Facioscapulohumeral muscular dystrophy (FSHD), a rare genetic disorder that leads to the progressive 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.