In November of 2012, Christian Lundy of Ottawa, Canada, was hospitalized with pneumonia. With his wife Kelly at his side, Christian endured weeks of hospitalization and intubation. Doctors became worried when Christian didn’t improve as quickly as expected and began to take a closer look at the possible reasons for his slow recovery.

One of the attending physicians recognized Christian’s symptoms and shared his diagnosis with the Lundys. Kelly recalls the doctor writing “myotonic dystrophy” on the corner of a piece of paper and handing it to them. “That day," she says, "we left the doctor’s office with that torn scrap of paper, an appointment to see a geneticist, and little else.”

Kelly began researching DM online. She came across the Myotonic website, where she found information about DM that was “organized and easy to follow.” For the Lundys, having comprehensive information about the disorder reduced their anxiety and helped them cope with the shock of the diagnosis.

That first year was extremely difficult. Christian suffered multiple bouts of DM-related pneumonia and his symptoms became more pronounced. He wasn’t able to return to work, and the young couple’s lives changed rapidly.

They both sought counseling and attribute that assistance with getting them through those difficult first months. However, Kelly knew she wanted a support group and there were none in her area. When Kelly saw Myotonic’s call for support group facilitators, she signed up. “Sometimes you have to create what you seek in life,” says Kelly. The Lundys launched their Ottawa support group last year and the group has been consistently growing ever since.

Numerous studies have reported improved outcomes for patients and family members affected by chronic illness who participate in support groups, and the Lundys know first-hand the added value their support group has created. They report they’ve made life-long friends of other support group participants and have built a network for sharing information, resources and knowledge.

Together, the Lundys are committed to building awareness about DM and bringing local DM community members into their support group. Kelly regularly distributes flyers to medical offices that provide care to DM patients. For each support group meeting, Kelly invites a DM professional to give a presentation for part of the meeting. A team of scientists from Ottawa University attended a recent meeting and presented an outline of their research, promising to follow up with the group about their results.

For those thinking about starting a local support group, Kelly has some advice: “Make sure that this is something that you really want to do. It’s unfair to participants to start the process, only to quit because you can no longer fit it into your life.” She suggests seeking assistance from others in the group and says, “When it all starts to come together, and you realize that your attendees appreciate your efforts, it is completely worth all the work."

The Lundys continue to enjoy and take comfort from their new-found DM community in Ottawa, hosting parties and attending get-togethers with their new friends. They are looking forward to this year’s Myotonic Annual Conference, where they’ll meet up with friends they met at last year’s conference. At Myotonic we’re grateful to the Lundys for their dedication to providing an engaging support group, and we look forward to seeing them this fall at the conference in Washington, DC!

To find a support group near you, click here.
For information on starting an Myotonic support group, click here. 

As corny as it sounds, my wife Lauren and I met ten years ago at my best friend's wedding. Upon first meeting her I realized she was one of the most personable and attractive people I'd ever met. We'll be married seven years this fall.

We had a hard time starting a family, so when we learned of Lauren’s pregnancy in 2010 we were thrilled! We were expecting twins; sadly we lost one of the twins at twelve weeks. Lauren had a difficult pregnancy, going into pre-term labor three times. The third time doctors performed an emergency cesarean-section because the baby’s heart rate dropped. Addison was born eight weeks early in November 2010.

When our daughter was born we had no idea that DM affected anyone in our family, let alone that she could possibly have it. Lauren had been told when she was twenty that she had “minor myotonia,” but the doctor never connected it with DM, or even mentioned DM. Lauren had some symptoms - when she squeezed her hand around a jar to open it, her hand would get stuck - but we never thought anything of it.

At birth Addison was extremely floppy, had jaundice and trouble breathing, and a slew of other issues. Although she was in very critical condition and there was a lot going on, we were overcome with joy, as she was the most beautiful and precious girl we'd ever seen. Seeing our tiny little "Cornish hen" (as Lauren called her) hooked up to tubes and machines was heartbreaking, but we just knew she'd be a fighter.

After four days Addison was transferred to St. Christopher’s Hospital for Children in Philadelphia, PA, where the medical team began to dive into our family history. We met with a geneticist and after a couple months the team began to suspect DM might be the answer. Addison and Lauren were both found to be affected by DM.

Addison struggled for life for well over two months. She was put on a ventilator and underwent a surgical procedure that corrects gastroesophageal reflux. After the ventilator she started to progress in the right direction. Lauren and I were exhausted from driving over an hour-and-a-half roundtrip to be with Addison in the hospital each and every day, but the prospects of finally being able to bring her home turned that exhaustion into elation.

After four months she was finally strong enough to come home! We made six trips to the emergency room. We went through surgeries, casts, doctor visits, and therapies upon therapies upon therapies. One could think it was difficult, but it became our normal.

Throughout her life, Addison has shown incredible resilience and grit. At 18 months old she decided she was done with her tracheotomy tube and simply pulled it out herself. Her ENT doctor agreed she didn’t need it any longer and that was that. Two days later, despite the fact that she'd never taken more than a few steps, Addison began to walk. She has incredible determination.

Today Addison is an extremely happy kid. She goes to preschool four days a week and is making friends. She loves watching movies, particularly “Frozen,” “The Lion King,” and “Disney Jr.” We like to watch sports together, and she can sing the Philadelphia Eagles fight song - she makes her dad proud! We try to give her every possible experience. She's been to Phillies games, Eagles games, Busch Gardens, the beach and on an airplane.

These days her biggest struggle is eating. Because she doesn't have the ability to swallow, all her food goes through a feeding tube. She also has trouble with her leg muscles and has undergone numerous surgeries to correct tightness in her Achilles tendons and hamstrings. For now, she wears splints and braces to help her walk.

Some of the best advice we ever got was to treat her like a regular kid. We have done just that, and we believe that’s why she’s become so incredibly strong. Addison is a little rock star. Like her mom, she doesn't let anything get in her way. DM is just another hurdle the two of them have been given to overcome.

We want Addison to have every opportunity in life so Lauren and I decided we needed to do something to further DM research. When we saw Darren Hanson’s Dash & Dine for DM fundraising campaign on Facebook we knew we too could do an athletic fundraising event and the Tri State Tough Mudder was our opportunity. When my nephew Chip found out about our plans for the Tough Mudder, he was the first to say he wanted to help out, so together we've formed Team Addison and we'll be competing and fundraising for DM in October.

We hope there will one day be a cure for DM so that Addison and children like her can continue to enjoy and experience everything their little hearts' desire.

Laura Gershenson is a high school science teacher, wife, and mother of two small children living in Dallas, Texas. She was diagnosed with DM in 2011 and found her way to Myotonic shortly after her diagnosis. 

Like many Myotonic community members, Laura’s DM symptoms began long before she was diagnosed. From a young age Laura suffered from irritable bowel syndrome (IBS) and, like her father, contracted early-onset cataracts. At the time, she and her family believed that her cataracts were just a hereditary anomaly. 

It wasn't until after Laura and her husband Eli had had children that they began to notice that Laura was becoming particularly clumsy. She found she was dropping dishes, struggling to open doors and jar lids, and having trouble pumping gas. Her hands were far too weak for someone of her age and physical ability. Visits to various specialists were not helpful; on one occasion a doctor told Laura that "short tendons” were the cause of her muscle weakness. It wasn’t until Laura’s physical therapist suspected DM that she was able to get a correct diagnosis. 

Laura says she feels very lucky to have a community of loving supporters around her, and is glad she sought professional counseling at the time of her diagnosis, as it helped her learn to adjust and accept. Laura doesn’t keep her DM a secret. All her students know and they are happy to help her, carrying supplies and opening bottles. “I just wouldn’t be able to teach science without their help,” she says. Laura encourages her students to ask her questions about DM, and her senior anatomy classes study muscle diseases as part of their curriculum. Students create brochures on a muscle disorder and many choose DM for their assignment. Laura jokes, “I grade those especially hard!” 

Laura is very optimistic about the future of DM research and believes that “every day brings new hope for a cure.” In the meantime she tries to look beyond her limitations and acknowledge what she has in her life. She works hard to stay physically fit and says, “You really have to make taking care of yourself a priority.”

Though Laura is incredibly busy, she volunteers on behalf of others in the DM community as a member of TeamMyotonic. In April, Laura held her second Dine Out for DM event at a local restaurant. Over the past two years she's raised visibility for myotonic dystrophy and over $1,000! In addition to her friends, family and colleagues, some of her students and their parents attended. “It was heartwarming to have their support,” she says. 

Raising the visibility of myotonic dystrophy and DM community needs plays an important role in driving Care and a Cure. “Grassroots campaigns like Laura's are the cornerstone of Myotonic’s advocacy efforts,” explains Aly Galloway, Myotonic Community Engagement Manager. “We need to build awareness and support for our issues with local, state and federal governments. Our community members are critical to Myotonic's efforts to educate the public about DM and the needs of affected local community members."

For Laura and her family, staying positive and looking ahead are primary coping strategies. “One day at a time is a healthy way to approach things, and every day can bring positive developments. I participate in studies to help further research.  No one wants to have a chronic disease, but it doesn’t need to define you.  You need to see beyond the diagnosis to the things in your life that matter so much more.”

“My condition is not who I am. It does not define me.” This is one of many affirmations that Amy Ream adopted after being diagnosed with myotonic dystrophy 17 years ago.

“I’ve been obsessed about retaining my quality of life, and being stubborn has benefited me greatly,” states Amy. Her determination became obvious when she shared her story with Myotonic.

A fitness enthusiast for most of her life, Amy hired a personal trainer to help her enhance her fitness routine just before her 30th birthday. “I had always been a runner but I wanted to really focus on my health and get in shape,” she recalls. “But when I started working out with free weights, I couldn’t even pick up five pounds." Her trainer and now friend Omar insisted she see a doctor. Amy scheduled an appointment and took time to write down any other minor medical issues that she’d been noticing over the years.

Piecing together a Diagnosis

“Despite being a runner, I’d noticed an aching in my thighs when I was walking up stairs, as well as some pain in my hands,” she says. “In addition, when I was about 23 I’d noticed that my tongue was tired and would often cramp in the mornings, causing me to slur my speech." As she wrote down each symptom, she started to wonder if they might all be connected.

“I had no knowledge of a history of DM in my family, so when the doctor mentioned myotonia, it was all new to me,” she shares. Her primary care physician referred her to both a neurologist and rheumatologist. It didn’t take long for them to put the pieces together. In fact, it was at her first visit to the neurologist in 1997 that Amy had an EMG test and received a pre-diagnosis of DM.  A genetic test later confirmed the diagnosis.

Since then, life has changed but Amy refuses to allow her physical limitations to keep her down. Although no longer able to run, she now walks a mile and a quarter nearly every day. “One doctor predicted I would eventually be unable to walk. He encourages me to take days off when I'm tired, but I'm committed to walking daily, rain or shine. I believe it helps keep me out of a wheelchair," she explains.

Amy’s no-holds-barred attitude permeates every aspect of her life. In her youth Amy was an accomplished pianist and was accepted into the UCLA School of Music, but is now unable to play. "In 2011 I was listening to my former piano teacher Nancie Kester play the piano and I just cried," Amy recalls. "Not because I couldn't play, but because I missed my identity as a musician."

Finding Passion in Performance

As a result, Amy decided to study voice and has become "completely obsessed" with singing. In January 2012 she began taking classical singing lessons and decided to plan a performance that would not only allow her to share her love of music with friends and family but would also raise money for one of her favorite non-profit organizations.

In September 2013, just over a year and a half after beginning voice training, Amy performed in the sanctuary of a local church and raised $2,600 for BORP, the Bay Area Outreach and Recreation Program. BORP focuses on helping people with physical disabilities through sports and recreational activities.

“The recital was an amazing experience,” Amy recalls. “Singing has become a center of peace for me. I didn’t think of myself as a singer before but now I’ll sing anywhere. I once even sang at a Verizon store!”

Amy’s enthusiasm for life and her determination to live fully despite her diagnosis has not gone unnoticed. She was awarded an MDA “Personal Achievement Award” for the state of California in 2000. “They were looking at how I continue to function and embrace my condition. A lot of people don’t embrace change, but with DM you have to,” she says.

“A saying I often repeat to myself—and anyone who will listen— is: I may not be able to run, but I can walk. I may not be able to play piano but I can sing. I may not be able to jump for joy but I can laugh with glee. That’s me. That’s what I’m all about.”

You can view Amy Ream’s recital on the Amy Ream YouTube channel.

Erich Maurer grew up in a small farming village in northern Switzerland. His mother was diagnosed with DM1 after complications from a surgical procedure. After his mother’s diagnosis, some of the Maurer family health history began to make sense, and they learned that several other family members, including his uncle and cousin, also had DM.

When Erich was a young man, his mother took him to a DM meeting in a nearby city. Erich remembers, “I looked around and saw people in various stages of the disease. I didn’t want to face the fact that what I saw could be part of my future, so I pushed it out of my mind.” He was young and rebellious, and was overwhelmed by the idea that he, too, could have DM. Erich was just beginning to understand other aspects of his identity and didn’t want to consider that DM would play a role in his future.

After moving to Basel, Switzerland in his early twenties Erich began to experience DM symptoms, such as heart arrhythmia and difficulty with fine motor skills. Forced to face the fact that he might have DM, he finally relented to his mother’s wishes that he be tested. He received a positive diagnosis for DM1.

It was around this time that Erich met Hariyono, a psychologist living in Singapore and the man who would become his husband. “I had been living in total denial,” says Erich. “When we decided to live together I realized I needed to tell Hariyono about my DM1. I sent him an email and asked him to carefully consider moving forward with our relationship. He emailed back within a couple of hours and said that he loved me, and would be there for me and he has been ever since. We’ve been together for 16 years.”

Even with the love and support of his husband and close friends Erich, like many others living with DM, has struggled to accept his diagnosis. “It was hard to come out as a gay person, but I had no idea how hard it would be to come out as a person with DM1.”

As his symptoms progressed, Erich searched the internet for information. During his search he came upon the Myotonic Community Forum and posted a question. He received a response from Leslie Krongold, Ed.D., the Outreach Director for Myotonic. Leslie, who also has DM1, was able to provide Erich with the information he sought; more importantly, however, she connected him to a community of people from across the globe that share his experiences with DM by encouraging him to participate in Myotonic Facebook groups and forums.

“The most important thing about these groups is that you know you are not alone,” says Erich. “It’s a great place to go to get real answers. There’s no reason to reinvent the wheel all over again, you can post a question and get a number of answers from people who live everyday with DM and experience different symptoms and treatments. Their collective knowledge and experience is so very helpful.”

Life has been challenging for Erich recently because his DM symptoms have progressed. He had to leave his job last summer, as his muscle weakness and lack of stamina were taking a toll on him. “It was difficult," he explains. "My boss was very understanding and helpful, but he insisted it was time to take care of myself and figure out the next chapter of my life.” Before his transition out of the workplace he spent some time in a physical rehab program, where once again he was confronted with his identity and his place in the community. For years Erich had been with the same employer, a nonprofit organization that helps people with physiological challenges gain job training and placement. But after the loss of both his job and some of his mobility, he began to question who he would become.

There have been some bright spots in this process. He now uses a cane and is willing to accept the assistance of others. In his words, Erich was “forced to see another side of life that I hadn’t allowed myself to see: the beauty in the everyday kindness of strangers.” He describes people offering to hold his bags or carry something for him after watching him struggle in public. "It is very heartwarming,” he says. “And while I am grateful for their help, I also see that I am helping them by opening their eyes to the physical challenges that some people face. Additionally, I noticed that I have become much more aware of small things and pleasures that brighten my day--the little things you normally tend to overlook when you are overwhelmed by a demanding job.”

Today, Erich keeps busy by writing about his experiences and helping others with DM on several support groups. He has also translated the Myotonic Toolkit into German, for release by Myotonic in the coming months. He feels that he not only has a strong support structure, but that he is also able to adapt his new tasks to his physical and psychological need. Recently Erich connected with a young German woman who was just diagnosed with DM1 and is working with her to help her understand her diagnosis. “What I’ve learned is that people need only the information they can take in at that moment. Doctors have a tendency to give you several pamphlets or books of information, which can be too much. So I start my conversations by asking, ‘What do you want to know today?'”

Erich is settling into his new lifestyle. His husband Hariyono continues to be a source of great support and encouragement. He also feels really fortunate to have great healthcare and government assistance. Erich tries to stay positive despite the health challenges he faces. “I find that I need to focus on what I have today and not what I don’t have," he says "It can really change how you experience your life regardless of whether you have DM or not."

As our community members know, there are two well-characterized types of myotonic dystrophy: DM1 and DM2. They are caused by mutations in different genes, but have many overlapping symptoms. This month, we have a spotlight on DM2.

DM2 has historically been considered to be less common than DM1; however, since the gene mutation for DM2 was identified, research advances indicate that it is likely much more prevalent than originally thought. Nonetheless, DM2 is still not as well understood as DM1 and typically has a longer diagnostic odyssey.

Later in March we’ll be talking with Dr. Matt Disney of the Scripps Research Institute about the DM2 research he’s conducting at his lab. We are starting off our focus on DM2 by sharing a conversation we recently had with Waltraud (Val) Reeber—who is living with DM2—and her husband and caregiver, Bob.

Meet Val and Bob Reeber         

Myotonic: Tell us about how you met and your family together?

Bob: I started a Fulbright Senior Research Fellowship at the Technical University in Aachen, Germany in 1972. I met Val at one of the Carnival balls just before Lent. We danced quite a bit that night and the rest is history. We were married in the fall of 1972.

Val: We have four children and have been living in North Carolina now for 33 years.

Myotonic: Val, how did you discover you had DM2?

Val: We got the DM2 diagnosis about five or six years ago after years of misdiagnosis. In 2001, my symptoms became worse and I went to a specialist who diagnosed me with inclusion body myositis. Bob did some research and knew the diagnosis wasn’t right.  

Bob: Finally in 2008, Val’s general practitioner suggested she go back to the University of North Carolina Neurology Clinic. Val saw a new doctor who had happened to sit in on a DM seminar by Dr. John Day and he realized Val’s symptoms could be DM. He ordered the genetic test that confirmed Val’s DM2.  

Myotonic: What were the symptoms?

Bob: Val showed symptoms as far back as when we were in Aachen nearly 40 years ago. It started with muscle weakness but then it got worse and she started having pain in her arms and legs, balance problems and high frequency hearing loss.

Val: I also have foot drop, due to muscle weakness in my forefoot. I recently took a fall when going down the steps, breaking three bones in my foot. I have trouble with my speech - I mix up consonants which sometimes prevents me from understanding what I’m hearing. When I was younger I multi-tasked well. Accomplishing a task now requires a lot of concentration. If interrupted, I lose my place and sometimes have to restart the whole job. I realize this can also be impacted by age, but others living with DM2 have reported similar experiences.

Myotonic: What are some of the ways you’ve found to manage the symptoms and disease?

Bob: For us, it’s all about teamwork because I was diagnosed in 2000 with a slow-acting lymphoma that, after 12 years of care, is in remission. We take care of each other. We make big meals, some of which we freeze, so we don’t have to cook on the days we aren’t feeling well. We also changed from stick shift to an automatic car to make it easier on Val’s legs. We do some research on our own, because I am a researcher by trade. I realized not long ago that the thyroid medications Val was taking seemed to help with pain management and weakness. I am always reading and seeking out other helpful information to discuss with her doctors.

Myotonic: Have you been in contact with other individuals who are living with DM?

Bob: Yes, last year we met with a DM2 group at the Myotonic Annual Conference in Houston and informally at earlier conferences in Florida and Minnesota. It is helpful to share our experiences, symptoms and information. Interestingly, about seven out of the eleven people in Houston also had hearing loss.

Val: Bob coordinated that DM2 group at the conference. He’s also on a Yahoo DM2 listserve that puts us in contact with others with DM2.

Myotonic: Have other family members been tested?

Val: My oldest brother, who lives in Germany, has DM2. He was diagnosed after me. His doctors wouldn’t test him until I sent him a copy of my labs and then they agreed to do the test.  We think a few of my nieces most likely have it as well. Because healthcare is different in Germany, getting tested is not as big of an issue there.

Bob: Our children have not been tested. They are all between 31 and 41 years old and we don’t know if they have it. They didn’t want to get tested because of the insurance situation in the U.S. and their absence of any major symptoms.

Myotonic: How has your quality of life been?

Bob: When Val is feeling okay, we take advantage of that. In the fall we went on a 30-day trip across the country, including a visit to Mt. Rushmore. We visited our children in various states and also saw other family and friends. We took a wheelchair and walker because if Val walks too much, she really feels it the next day.

Val: We visited over 10 states last year and when we arrived home, we got back in the car and drove from South Carolina to Houston for the Myotonic Annual Conference.  

Val and Bob are dynamic team. They continue to seek treatment options for Val and enjoy sharing their knowledge and experience with others impacted by DM2 through their listserve Myotonic Muscular Dystrophy 2—PROMM. For more information or to join the listserve, please contact the group at myotonicdystrophy2-subscribe@yahoogroups.com. 

About the Reeber’s listserve Myotonic Muscular Dystrophy 2—PROMM: International web-based support and advocacy group exclusively for patients diagnosed with Myotonic Dystrophy type 2 (DM2) or PROMM. Participants of this forum must note that participants are not medical professionals. Ideas and discussion in the forum are intended to be educational in nature. For diagnosis and management of DM2, seek a neurologist who specializes in adult neuromuscular diseases.

03/05/2014

When Loraine Dressler’s daughter Kristl was just a few weeks from giving birth, she was diagnosed with myotonic dystrophy. According to Loraine, the diagnosis provided a sense of freedom that had eluded Kristl for years. “She said that while people may have thought she was crazy before, now she knows she’s not,” Loraine recalls.

Growing up, Kristl had experienced many challenges, including a lack of problem-solving skills. “Kristl’s symptoms didn’t connect in a way that made sense to any of her doctors,” Loraine says. “She would come home from school and tell me about other kids but couldn’t tell me about her schoolwork. She also didn’t like me to read to her as a young child and told me that the words confused her. She couldn’t make connections between words.”

Now Kristl says she no longer feels alone. After being diagnosed, she told Loraine, “I’m OK. All these people are OK, and we’re fine.” That was a moment of joy for Loraine, who knows how she feels. Loraine herself wasn’t diagnosed until Kristl’s pregnancy. However, her late brother lived with DM and experienced serious symptoms. For years Loraine been attending a support group with her brother and knew the group members well. So when she was diagnosed, she already possessed much of the knowledge and coping skills she needed.

“I never fell through the black hole many people experience when they first receive the diagnosis because I already had a support group. The people in that group were like family.”

Loraine says her brother was a great example. He did whatever he could, including making adjustments to his Jeep so he could accommodate his feeding tube. “Once diagnosed, people tend to become good at solving problems and keeping going,” Loraine adds. “I’m grateful for what we have and don’t cry about what we don’t have.”

In fact, not only does she not focus on the negative, but after attending the 2013 Myotonic Annual Conference in Houston, she decided to start her own support group in Orange County, California. “We’d been driving over an hour to get to the support group we were attending, but I felt there could be a need closer to home,” Loraine says. “I wanted to step back from just taking care of Kristl and her son, Zen, and give something to the community. I see it as a way to make my world bigger. I’m looking forward to getting people involved and giving back some of what’s been given to me.”

In the meantime, she spends her days as the primary caregiver for her grandson Zen, who is now 19 months old and was born with congenital DM. She fondly remembers celebrating his first birthday, determined to be grateful for every day they are together.

“Everything is more now,” Loraine says. “I appreciate the simpleness of breathing and days when Zen is not overwhelmed by coughing. I have a new appreciation for the quietness of the body. Being a caretaker has brought that to me. Zen loves me, and if I’m as big as his world ever gets, I’m going to make sure his world is a good one. It’s already a good one.”

Regina (Rupp) Thompson grew up near Nashville, TN, feeling different. Not because she was diagnosed with myotonic dystrophy (DM), but because she was the only one of seven children who wasn’t. And, she was the only girl.

All six of the Rupp brothers were diagnosed with DM after starting to experience symptoms in their teens. One brother—a Special Olympics coach who also had a heart condition—passed away in adulthood due to DM complications. Regina’s father, who has also passed, had the disease as well.

“My father was diagnosed with myotonic dystrophy back in the ‘70s but it took some time for his doctors to figure it out,” Regina says. “He fell down a lot and had collapsed lungs, but nobody could seem to put the pieces together because so many parts of his body were being impacted. Finally, when one of my brothers broke his hand and couldn’t grip afterward, his physical therapist helped figure it out. We then were able to connect the dots."

“The disease effects each one of my brothers a little differently,” Regina adds. “They all experience muscle weakness, three of them have extreme difficulty swallowing and three have cardiac problems. Almost all of them have decreased lung capacity.”

Despite this, the Rupps remain optimistic. After the boys were diagnosed, their father devised a course of action he thought would help the family stay strong: swimming. “His mantra was: Exercise to stay strong but don’t hurt yourself, sleep well but not too much,” Regina says.

“My mother would take all seven of us kids swimming every day. Over the years it’s become a family tradition. It was so much fun. The boys would pull mom around on the kickboard, which not only helped them build strength, but also helped them bond with one another. We would all feel good about it, which explains why we all still go swimming together as often as possible,” Regina explains. “It’s not only physical therapy, it’s mental therapy. The pool is a place for us to be social. If we’re having a bad day, we’ll say, ‘Let’s go for a swim!’ We’ve been doing it for 50-plus years!”

Despite physical weaknesses, Regina is thankful her brothers don’t suffer from cognitive developmental weaknesses. “They’re quite independent in their ability to make healthy eating choices, and they really support and take care of each other,” she says. “They compensate for one another. In my eyes, they’re very successful. They’ve all done very well for themselves in terms of self-reliance.”

“People speculate all the time about how difficult it must have been for me,” Regina continues. “But it’s never been hard. I’m the unaffected person and I reap great benefits from them. I can’t really understand how hard they work. They get up and eat their breakfast, despite the fact that their muscles hurt and they can’t swallow. Everything they do, from tying their shoes to swimming, is work—it’s a daily struggle. I never understood this growing up because my brothers never complained. They’re gracious, happy, thankful. They never whine. They’re such good, solid strong guys and so much fun to be around."

“To me, that’s just how we are as a family,” Regina continues. “It was perfectly normal that we’d stick together and take care of each other. I always wanted to take care of my brothers as best I could. What I’ve learned at the Myotonic Annual Conferences and through other resources helps me take care of them. We’ve all been dealt things we have to live with but your perspective really can make all the difference.” 

Jessica Flynn, 26, grew up with a mother and twin sisters who all live with myotonic dystrophy; her mother has adult onset DM, and her sisters have congenital DM. Although Jessica hasn’t experienced any symptoms, she’s in the process of getting tested to determine if she’s a carrier. Jessica often hears the comment, “It must have been so hard growing up with family members affected by DM,” but she didn’t see it as a burden or a problem, it was just her normal life.

Mother-Daughter Bond

Jessica’s mother, Robin, was a ballerina for 16 years and began to suspect that something was wrong when she was still a teenager. Robin started noticing myotonia in her hands, and soon discovered that DM was carried in her genes from her mother’s side of the family. Regardless of genetics, Jessica says her mother remained active and DM didn’t greatly affect her quality of life for some time.

“Myotonic dystrophy didn’t really begin to affect my mother’s life until her late 30s or early 40s, when she started falling down a lot,” Jessica says. “Since then, the disease has progressed pretty severely -- it’s very hard for her to walk, and she had to get a pacemaker about 10 years ago. As she ages, her facial muscles are weakening and she also has a lot of daytime sleepiness.”

Though Jessica started to notice her mother’s health deteriorating when she was a child, it wasn’t until adulthood that she realized the direction this disease was taking and what that potentially meant for her.

Jessica’s grandmother, Katie Walter, discovered Myotonic, got involved and began educating herself so she could better understand what her stepdaughter and granddaughters were experiencing.  In fact, Katie and Jessica attended their first Myootnic Annual Conference together a few years ago. “One thing I learned was that even though I don’t have any symptoms, I could still have the disease,” Jessica states. “I could follow a similar path as my mother or could pass DM on to my children. Knowing this, we’re seeing geneticists to remain proactive.”

Understandably, simple blood tests have been emotional. “On one hand, I want to know if I have the repeat expansion. On the other, I don’t think it would stop us from having more children,” she says.  A year after finding out that she needs to be tested, she says it’s been difficult to get the tests because her mother hadn’t even had her tests completed until recently.

Sisterhood

Jessica’s twin sisters, Rebecca and Sandra, were born prematurely and immediately diagnosed with DM. “While I was growing up, DM was normal for me; it was just the way our family was,” Jessica explains.  “I started noticing differences between me and my sisters when I began to develop mentally and they didn’t.” Rebecca and Sandra, now 28, live with their mother and, developmentally, remain at about a five-year-old age level.  They’re also physically small for their age.

“It wasn’t difficult growing up in a family like mine. It’s just a part of my life; it’s who we are,” Jessica says. “My sisters and I are very close. As kids, we did everything together. It wasn’t until I was in middle school that I started noticing that we were different. Suddenly, we didn’t have a lot in common. But that didn’t affect how I felt about them.

“Eventually, however, I realized I was different and it was harder for me to connect with them the way I once did. I started making my own friends and finding my own identity. Now that I’m married, live away from them, and am starting my own family, we don’t have the same sister relationship. But when my daughter was born, our family dynamic changed again. My sisters love babies. They love her, they dote on her, and that has brought us back together.”

Diane Bade’s three children — Scott, Nicholas, and Christine -- have myotonic dystrophy, as did her husband, Chris Bade, who passed away in 2005. Though not affected herself, Diane, like many parents and spouses, works tirelessly to educate herself, her family and her community.

 “My family had been misdiagnosed for 18 years, and we really wanted to know why we were different,” Diane says.  “Finally, in 1993, we received the correct diagnosis. There were so many questions and feelings of isolation.” In 1998, the very first disease-specific support group gathering was held for people with DM. 

“Once we began to meet other similar families, it was like a family reunion,” Diane adds. “There were so many commonalities. Then the IDMC (International Myotonic Dystrophy Consortium) invited families to their 2005 conference, which, until then consisted only of research-based folks. Out of that conference, Myotonic was born.”

Diane and her family have been very active on DM issues, starting the first annual camp for young adults called Camp Bade. This sleepover camp at the Bade home allows young people to come together from all over the country to talk, have fun and support each other. 

For Diane, the sense of joy and satisfaction that attendees experience among their peers motivates her to continue the experience. When Chris’ father, Milton, passed away, his family set up a foundation that supports medical research and assistance to people in the DM community, allowing more young adults to attend Camp Bade. The foundation also contributes funds for the Young Ambassadors program which helps send young people to the Myotonic Annual Conference.

Diane says that when she sees young people together—teens and early adults—she notices a growing bond. “As a mother, it’s rewarding to see these young people accepting one another and laughing and enjoying themselves because that doesn’t happen in ‘normal’ circumstances,” Diane explains.

“The Young Ambassadors attend the Myotonic Annual Conference to learn more about themselves. They talk about personal issues – questions they have that they can’t talk about with their parents,” Diane says. “In this context, they’re able to talk about these things and get support and answers from their friends and peers. The more knowledge we equip them with, the more we empower them to manage their own disease.”

Diane adds that, “It was such a joy to hear so much laughter in my house that first time I hosted Camp Bade. My kids are quiet much of the time.  They watch life happen a lot –they are engaged with TV—but they don’t participate much,” she says. “But when they meet their peers and their friends, they’re engaged like children, laughing and experiencing joy. With this disease it’s easy to fade into the sidelines. They don’t say anything and many times just accept whatever comes their way. There isn’t that drive to reach out. But when they get together, they feed that enthusiasm within each other.

“My children live vicariously through others,” Diane continues. “Their social networks and outlets are limited by their circumstances. They’re okay with all that, which is the funny part. I’m not okay with it, with them living through others. I want them to live life, but they are completely okay with watching life happen. At the same time, they are aware of the joy and experience of fun and laughter at Camp Bade. They love to have fun.”

Diane is eager to empower these young adults. They talk a lot about the resources that are available to them, such as medical information and clinical studies. They’re also encouraged to get involved with registries and participate in longitudinal studies. Diane says she wants her kids to be a resource and participate so the next generation can benefit.

“My kids don’t have a lot of goals,” explains Diane, “But I do want them to help break the cycle of having babies with congenital DM. And the best way to help children with low self esteem is to get them together and educate them. I like to see them helping one another, not defining who they are by the disease.

“If I’ve learned anything from my children, it’s to respect people where they are, and not push my expectations on them. I want them to embrace the life they’re given, and enjoy it.”