When Kevin and Loraine Dressler of Huntington Beach, Calif., entered their 60s a few years ago, they started looking at retirement communities. Kevin, an inventory analyst for Suzuki Motor of America, had two adult sons from a previous marriage who were living in Arizona, so relocating there was a possibility. Loraine, a former intensive care nurse and nurse case manager, had two adult daughters who were both living on their own. The couple was looking at places with lots of leisure activities and thought about buying a motor home and visiting U.S. national parks.

But that’s not what happened.

A Surprise Diagnosis

Loraine’s daughter Kristl had experienced a rough adolescence, had dropped out of high school before graduation, and had difficulty holding a job for long. Eventually, after arguments with her parents, she left home. “She didn’t want to go by house rules,” Kevin says, “and then we sort of lost track of her for about 10 years.”

Then, in 2012, Kristl was suddenly back in Huntington Beach, with a boyfriend, a baby on the way, and a wedding to plan. Retirement, the Dresslers decided, would have to wait.

Things did not go smoothly. As she entered her sixth month of pregnancy, Kristl was larger than expected, prompting an ultrasound that revealed an excessive amount of amniotic fluid and a baby that wasn’t moving. After a two-hour ultrasound exam, an astute radiologist told Kristl and Loraine that he thought the baby might have the congenital form of myotonic dystrophy, a genetic disorder that affects the muscles and many other systems in the body.

A consultation with a medical geneticist and DNA testing soon confirmed the diagnosis. The baby had the severe, congenital form of type 1 myotonic dystrophy (DM1), while Kristl had the juvenile-onset form of the disease, and Loraine had a moderate type of adult-onset DM1.

(DM1 is caused by an expanded section of DNA on chromosome 19, which tends to get larger with each generation in a family. In general, larger expansions are correlated with earlier disease onset and more severe symptoms. For details, see How DM Affects Your Body and the MDF Toolkit.)

Scared and Shocked

A lot of things now started to make more sense. Loraine’s brother had died at age 47 of respiratory difficulties, almost certainly attributable to adult-onset DM1. Loraine had experienced hip joint abnormalities and had undergone replacement of both joints, prompting an early retirement from her nursing career. That too, it now appeared, was likely caused by her DM. And Kristl, whose cognitive and physical limitations had interfered with her education and employment, could now put a name to her disorder. Unfortunately, the baby, with congenital DM, was in an urgent situation, likely to be born unable to breathe or eat without immediate, high-tech medical intervention.

“I was scared and shocked,” Kevin remembers. “Through all my life up to that point, things were real easy. There was nothing dramatic – no crises, no health issues. This was one of the biggest things to hit my life.”

The baby, who would be named Zen, was born on May 14, 2012, two months ahead of schedule and weighing just a little more than 4 pounds. Pale and limp, he was placed on a ventilator within minutes and would spend the next eight weeks in a neonatal intensive care unit. For sustenance, he would depend on formula via a feeding tube for the first year of his life. Predictions were dire. “They thought Zen might never be able to eat regular food,” Kevin says. “They thought he might be blind.” 

Kristl and Loraine visited Zen in the neonatal intensive care unit (NICU) every day, and Kevin was there as much as possible. “I was sad for Zen when he was in the NICU,” Kevin says. “My role then, though, was more as a caregiver to Loraine, supporting her during that time, doing whatever she needed me to do.” He remembers wondering how he would ultimately fit in and how he would deal with the sudden changes in his family, including navigating new relationships with Kristl and her partner, coping with a DM diagnosis affecting three family members, and caring for a new baby who at best would require a great deal of complex care and at worst might not survive.

Kevin knew, however, that he and Loraine would have to support this young couple with a sick baby. At that point, he says, “You don’t run away; you jump in and take over.”

An Expanded Role for Kevin and Loraine

After a rocky couple of months, Zen was finally able to go home to his parents’ apartment in July. The marriage, however, did not last, and Kristl and baby Zen soon moved in with Loraine and Kevin.

Kevin’s role quickly expanded to include baby care during the hours he was not at work. (Kristl, now 31, is involved with Zen’s care but is hampered by her own DM symptoms.)

The Dresslers have become full-time caregivers, even though Loraine, now 62, is beginning to experience fatigue and other DM manifestations herself. “Loraine and I are both Zen’s caregivers,” Kevin says. “She’s there during the day, and I do the evenings. On weekends, I take care of Zen so she can do housework, but I also help her to do those things. If she wants to be in bed or at the computer, that’s fine. I can play with Zen, take him for walks, feed him.”

Kevin says he’s always considered himself “on the shy side,” someone who doesn’t have many friends. The caregiving role, he says, has given him “an opportunity to get out of my comfort zone” and has given him a sense of his own worth. “We have three people with DM in our household,” Kevin says. “And I’m OK with that. I totally am. I always thought of myself as willing to help others, to be there for them.”

Zen Is Doing Well

Zen is now 3 years old and “blossoming,” Kevin says. “He’s coming more alive and is on the road to being an active, typical kid” who has exceeded early expectations. He can see and hear, walk, eat regular food without a feeding tube, and breathe on his own, although he requires daily respiratory treatments.

Zen has signs of autism (not uncommon in congenital DM) and receives 19 hours a week of special therapy for that condition. He loves the therapy sessions, where he’s learning to use a cup and spoon and match objects to their correspondingly shaped holes.

He now says a couple of words and reacts to people with emotion. He also loves going for walks, riding his toy car, and eating. He’s been to Disneyland and Disney World, where he’s finally big enough to go on the rides.

“The thing we want to do is make sure that Zen has the best day he can every day,” Kevin says, “and keep him happy, healthy, safe and loved.”

Support Groups and Conferences

Although plans to visit the national parks are on hold, Kevin and Loraine have learned the ins and outs of traveling with a baby with special needs, and they’ve attended several conferences and support groups. In September, Kevin was on a panel with two other unaffected male caregivers at the 2015 MDF Annual Conference, held in Washington, D.C. Some 30 men attended, prompting the launch of a closed, private Facebook group for male caregivers in DM families. (See Unaffected Male Caregiver: Caring for Spouses & Children and Unaffected Male Caregivers Facebook Group on the MDF website.) “There’s a lot to learn,” he says, and sharing is helpful.

The support group that Loraine and Kristl attended (while Kevin took care of Zen) recently moved to another state, so Kevin and Loraine have become facilitators of the MDF Support Group – Orange County.

Doing More Than Just What’s Needed

Asked what advice he had for male caregivers, Kevin offered these thoughts: 

• “My strategy is, ‘Tell me what you want done, and I’ll do my best to do it,’” he says. “I don’t try to do everything. I don’t keep up with the medical stuff. Loraine does that.”
• He advises men in his situation to be patient; accept that you can’t run away; recognize that you are not alone; join a support group; and reach out to a trusted friend, if you’re lucky enough to have one, when you need help.
• He also wants to remind people that there’s more to caregiving than just doing what comes next. “When I come home at 5 p.m., if Zen is in the living room, he comes over and hugs me. And regardless of how hard the day has been, it’s all forgotten.”

An interview with Loraine Dressler was featured on the MDF website in August 2014. See Loraine Dressler: Accentuating the Positive.

Mike Hamlin learned that he has DM1 in 2007. After retiring from a career at the Environmental Protection Agency in 2013, Mike worked with members of the local DM community to launch a DM support group in the Washington, DC area. The group is going strong, now led by one of its original members. Mike recently relocated to Key West, Florida, to follow his dream of living life creatively and with purpose. We asked Mike to tell us about the experience of launching a DM support group.

How did you decide to become a support group facilitator?

I went to the 2010 MDF Annual Conference in Minneapolis, never having met anyone with DM before. At the conference, there was a whole room full of us. For the first time, I knew I wasn’t alone. Later, I realized there were no DM support groups in Washington, DC. I contacted Leslie Krongold, who formerly ran the MDF Support Group Network, to talk about starting one.

I have a wonderful family and was in a relationship that was very fulfilling. But still, I have this difference on chromosome 19 that I carry around. I ached a little bit inside from the loneliness that difference can cause. My personal motivation came from a desire to connect.

How did you begin?

The first step was to find a suitable space to meet. When I approached Sibley Hospital, they were very receptive to hosting our group. So we had an accessible, private, pleasant place to meet.

Were you nervous about anything at the start?

I had a long career as a human resources manager. That’s unusual perhaps because I’m a big time introvert. I’m shy. I wondered if anyone would come to our meeting. And I was uncertain about the questions people might pose. Not the medical questions so much, but the personal questions that we hold inside and that don’t have answers. How long am I going to live? What are my expectations of my husband, wife, kids? How am I going to raise these issues with them? How do I get around? Can I live by myself or not? DM affects the most important things in your life. As one of our participants puts it, “There are so many uncertainties, how the hell do you plan?”

As a support group facilitator, what do you set out to accomplish?

The facilitator needs to set up a format where people can connect -- to provide structure so that the time is well managed. But not tightly managed. It’s important for the group to own the meeting. We decide together what we want to talk about. I want to provide a place where people who have DM can bring up anything they want to and talk about it, anything at all.

Do you talk about medical issues?

We build in a knowledge period, time in the agenda to talk about medical or scientific topics or recent research. For medical questions, we go to the MDF website and their Toolkit. We are in touch with specialists at Johns Hopkins Medical Center, as well as Kennedy Krieger Research Institute, one of the sites for the Isis Pharmaceutical drug trials. We email them with specific questions and requests for referrals.

What surprises you about the dynamics of the group?

In the work world, organizations engage in team-building activities, common experiences that help staff trust each other and become supportive teammates. Everybody that’s in a DM support group comes with something in common already. It’s in their DNA! From the start, there’s a level of trust that takes other groups or teams a long time to achieve.

How do you spread the word?

MDF is indispensable when it comes to using their database to publicize the group. They refer people from our area to us. We started out with 5 or 6 people. At the last meeting we were up to 14. Our DM community includes caregivers, moms, dads, sons, daughters and good friends of people with DM.

What has surprised you about your group?

The silence. The thing I’ve had to get comfortable with is managing the silence. When there is silence, the answer that there is no answer starts to sink in as it never has before. And from that comes strength, the strength to accept uncertainty and not let it be a barrier to living fully and seeking out relationships with others.

What’s on your horizon now?

I’m living by myself now and my son tells me I’m nuts. It can be scary. I’ve had to invent ways to open a car door or to open a jar of pickles. My right hand doesn’t work well anymore, so I have to work hard not to make a mess when I’m dining with other people.

But it’s also wonderful. I wouldn’t be in Key West right now if it weren’t for the emotional connection to wellness that I came to understand in our support group. It was in the stillness of that silence that I arrived at a new sense of freedom and purpose.

In a DM support group, each person benefits from the emotional strength you get from knowing that you’re not all by yourself. That helps you build your strength inside.

Interested in finding a support group or becoming a support group facilitator?

Facilitators are needed in New York City, Boston, Chicago, Southern Florida and many other places. For more information, please contact MDF at info@myotonic.org. 

May 5th, 2014

As part of MDF’s Dash & Dine fundraising program, Eric Jensen and his three-year-old son River will be cycling through the state of Iowa in the Des Moines Register’s Annual Great Bicycle Ride Across Iowa (RAGBRAI), July 20-26. The Jensens are dedicating their journey to families affected by DM. River's Ride will raise funds for MDF while educating and informing the public about the disorder. Both River and his mother Taylor have DM1.

“We want to inspire hope for a cure for all those affected by DM,” says Eric. “Our family is so blessed that we’re able to go on this adventure together. We know that many people living with DM are not as fortunate as we are, and so we ride in their honor.” The Jensens will be documenting their bicycle ride online so that the DM community and others can be a part of the adventure. With more than 10,000 RAGBRAI participants and thousands more volunteers and spectators, River’s Ride intends to educate the public about DM throughout Iowa and beyond.

Eric’s wife Taylor was diagnosed with DM1 shortly after River was born. After a wonderful pregnancy and delivery experience, Taylor suffered muscle weakness and was ultimately referred to a neurologist, who diagnosed her with DM. River was then tested and diagnosed shortly before his first birthday. “It brings you to your knees,” says Eric. “Taylor’s diagnosis was so difficult, especially for me, and then for River to be diagnosed with DM, it was devastating.”

Shaken at first, the Jensens took some time to let the diagnosis sink in, but in a few short months they were learning everything they could about DM. That’s when they came upon MDF, finding much needed support and up-to-date information on myotonic dystrophy. The Jensens have since begun holding annual fundraisers for  MDF. “It was important to us that MDF not only provided support and information for families but also focused on funding research.” The Jensens were especially interested in the funding of scientific fellowships specifically dedicated to DM research. Eric Jensen is a veterinarian and explains, “As a scientist and clinician, I know the importance of funding research, especially young DM researchers. MDF’s Fund-a-Fellow program provides up and coming scientists with opportunities to work with experienced principal investigators, seeding the future of DM research and helping discover and advance new therapies."

Since finding MDF in 2012, the Jensens have been 100 percent committed to helping find a cure. “It is our coping mechanism,” say the Jensens. Eric however admits he still feels great anxiety about what the future may hold for his wife and son. “The unknown is the most difficult thing for me, but my wife Taylor is the rock in this family and she always reminds me how incredibly fortunate we are - she keeps me going,” he says.

The Jensens live in San Diego, California, however Eric was born and raised in Iowa. "It is a wonderful place - I have many fond memories of growing up in Iowa and have dreamed of sharing my home state with my son,” Eric says affectionately. “For years my friends have talked about RAGBRAI and I’ve always wanted to participate in the ride. This seemed like the perfect opportunity for us all,” he says. “The chance to experience Iowa on a bike is perfect! There’s no better way to smell the corn fields, feel the humidity and meet the incredibly kind and hospitable people of Iowa than on a bicycle riding across the state.”

Taylor will drive the route with Eric’s sister Becka and her family, and camp out along the way. River will have mom, Aunt Becka and family to provide a nice respite when he's ready to get off the bicycle during the 418 mile cycling event, while giving him the chance to play with his cousins along the way. Eric’s other Iowa family members will support Eric and River throughout the route and help spread the word about DM and River’s Ride.

An avid bicyclist, Eric rides his bicycle to work each day as Managing Veterinarian for the US Navy Marine Mammal Program. In preparation for River’s Ride in Iowa, Eric and River ride about 30 miles each weekend. “Keeping River enthusiastic about getting on the bike has been a priority so we sing and talk along the way and we especially like taking in the wildlife and nature you can only see by bicycle.”

When asked what Eric wants for his son’s future, Eric says tenderly, “I want him to grow up and live a fulfilling life full of wonder. I want him to be able to pursue his every passion in life.” Eric says of his son, “River is a very physically active and animated little boy who loves the water and outdoors and I don’t want that to change. I want a cure for River and other children and families affected by DM.” The Jensens say encouragingly, “Researchers are close to promising clinical trials and possibly successful treatments. We’re committed to helping play a role in making that happen.”

Learn how to start your own grassroots fundraising effort.

In January 2023, MDF’s Community Resources Coordinator, Ruth Sheldon, sat down with Araceli Mera & David Kugler, MDF’s Spanish-language Support Group Facilitators.

There are two people I have the great honor of introducing to you: Araceli Mera and David Kugler. Their names may be familiar because of their history of active involvement in the myotonic dystrophy community through the Myotonic Dystrophy Foundation (MDF). Over the last 11 years they have both attended several MDF Annual Conferences and have helped translate toolkits and other health resources into Spanish for the community.

This year, however, they decided to dedicate even more of their time and expertise to the DM community! They have created, and are co-facilitating, a new virtual Myotonic Dystrophy Support Group for Spanish Speakers! This new group hopes to support and engage Spanish-speaking individuals affected by myotonic dystrophy around the world, thereby increasing the accessibility of MDF’s support groups and connecting more people to more of resources they need. The facilitators themselves demonstrate this reach; Araceli co-facilitates the group from Chile while David joins from the United States.

Araceli, born in Santiago, Chile to Spanish parents, has three children and works as an industrial and civil engineer at a family-owned company. She was introduced to MDF following her son’s diagnosis in 2011. She was subsequently diagnosed herself, and in 2012 her family attended the MDF Annual Conference. Since then, Araceli has done incredible work for MDF on her own as well as alongside her co-facilitator David.

David joined the MDF community after his daughter was diagnosed with DM at age seven. Her symptoms had been explained away by other physicians for years but were finally identified during an eye exam after her eye muscles raised concern of the ophthalmologist. After attending the MDF Annual Conference in 2011 and utilizing resources created by MDF, David became a support group facilitator. When I spoke with David for this interview, he spoke about barriers to care and the scarcity of resources available to the Spanish-speaking community, and how he wanted to help change that.

As MDF continues to expand, we are grateful that Araceli and David are volunteering their time and expertise to encourage that expansion. It is a step in the direction of increasing access -and reducing barriers- to mutual aid and support for those living with myotonic dystrophy. And it is a step MDF hopes to build upon for years to come.

All Spanish-speakers in the DM community are welcome at the next support group meeting. To be added to the Spanish-speaking email list or to be put in contact with Araceli and David, please contact MDF by email at info@myotonic.org or by phone at 415-800-7777 or fill out this form.

Araceli and David look forward to meeting you!

In January 2023, MDF’s Community Resources Coordinator, Ruth Sheldon, sat down with Support Group Facilitators Alex and Julie LeBoeuf to learn more about their story! 

I got choked up several times during this interview because of the deep sense of belonging I felt while meeting with Alex and Julie over Zoom. Seeing the unconditionally loving glances Julie gave Alex as she spoke about her experiences made my heart ache with warmth. Julie, a highly experienced educator in the field of special education, is naturally skilled and exudes an aura of patience and calm. She gives a type of silent support while listening that made me feel as if I were receiving a big hug. Her body language told me that I had her full attention, and as corny as it sounds, her full heart. Though I know that they have sat down for many similar interviews and answered many of the same questions, Julie hung onto every one of Alex’s words like they were the first she had uttered them.

Alex, now a university student, is a talented artist who was recently propelled into the spotlight of the disability community when she won several awards for her volunteer work and involvement in Muscular Dystrophy Canada, as well as her logo design for International Myotonic Dystrophy Awareness Day on September 15th. Alex is a young woman poised for greatness. Her quick wit shines through and shows that she is processing every word you have spoken. She speaks with the regulated confidence of someone much older, and her soft but steady voice demands attention.

Julie’s husband, Alex’s father, began showing symptoms of myotonic dystrophy in 2012. He underwent genetic testing and was diagnosed with myotonic dystrophy type one (DM1). Shortly thereafter, Alex was tested, and a positive test came as somewhat of a relief- it explained all of the symptoms Alex has been experiencing. Julie described the day they received the positive results; “One single tear went down Alex’s cheek and we asked her if there was anything we could do for her. She said that there was- she would like to meet someone else with myotonic dystrophy.” Alex and Julie both spoke about the benefits of making friends with people in the community.

"Alex found the importance of using her voice," Julie stated regarding their increased involvement in the DM community. The logo contest gave Alex a sense of purpose during the pandemic that she didn’t want to lose. I can certainly identify with the way the pandemic has often led me to feel “doubly isolated”, isolated in the general sense, but also as a result of living with a largely misunderstood disease during a public health crisis. It can sometimes feel easy to get lost in all of the fear. We ask ourselves questions about our safety, about the mechanism of the disease, as well as whether we should risk cutting corners. If I go to the grocery store, I will get to interact with people, but is it too much of a risk? Do I skip brunch with my friends to protect myself? Ultimately, we can be left feeling lonely regardless. I feel like I am the only one who asks these questions so frequently; none of my friends have to. But now, I am sitting across from someone who has transformed the feelings that I just described into actions. During the pandemic, as I lounged around and ate ice cream (and sometimes feeling sorry for myself), Alex was channeling her discomfort into the creation of art to be used by and for the DM community. To me, that is inspiring.

Alex spoke in a matter-of-fact way; "I didn't want to be just another 'patient'. When I started getting involved, I found a sense of purpose.” That is exactly what Alex has done; and Julie has been there every step of the way- from diagnosis to local involvement, and to international engagement. It has been made abundantly clear over the time I spend chatting with Alex and Julie that they intend to live life out loud. Julie ended the meeting by saying, “From the get-go, I said we are going to live hard. We are all terminal. It makes us more aware of living our lives. Don't wait to take that trip!” As I write this, I think about my next trip... now you all think about yours!

These two have found a new way to support the community but leading a support group in Canada. They encourage you to join them for their Spring meeting on May 6th, 2023!

Thank you, Alex and Julie!

Staying Positive

Tom McPeek had been an award-winning dog trainer who loved to go on outings with his Airedale terriers. Once a year, he would drive from his home in Chillicothe, Ohio, to South Dakota to hunt pheasants during day-long trips in which he would hike ten to 12 miles.

Tom, 52, doesn’t hunt anymore. He’s had to give up raising dogs as well. After a career working on the human services side of corrections—starting as a juvenile probation officer and most recently serving as a regional director of a halfway house for adult felony offenders—Tom had to retire five years ago because of the progression of his myotonic dystrophy type 2 (DM2).   

“I had enough physical problems and some cognitive issues that I had to go out on disability,” he said. “I would rather be working right now, but I just didn’t have a choice.”

DM2 tends to have a later onset, be less severe and slower to progress than myotonic dystrophy type 1 (DM1), and it is caused by a mutation of the CNBP gene rather than the DMPK gene that drives DM1.

In retrospect, Tom realizes the disease began to show itself when he was in his teens. He suffered growing pains that never seemed to go away. He was unable to build muscle mass like his peers, or keep up with them in sports. In his twenties, he loved to work on cars, but if he used a screwdriver, he could not release it from his grip. A doctor dismissed such problems as carpal tunnel syndrome.

But in his forties, Tom noticed a significant loss of muscle mass. He had problems training for his annual hunting trip and had to switch to a lighter rifle. He developed intense pain and weakness in his hips and leg. When he talked to people, he sometimes had difficulty finding the words he wanted. By the time he sought a diagnosis, he learned that two of his uncles and an aunt had DM2. In May of 2008, a genetic test and electromyography—a diagnostic procedure to test how well nerves that control movement communicate with the muscle—confirmed what he had suspected.

A New Life Emerges

The family connection may have spared Tom a diagnostic odyssey faced by others. He notes that many people with DM2 may never get diagnosed, as their symptoms can be dismissed as problems associated with aging.

His uncle introduced him to an online myotonic dystrophy group, and then in 2011, convinced Tom and his wife Kim to join him at the 2011 MDF Annual Conference in Clearwater, Florida. There, he met researchers studying the disease and many of the myotonic dystrophy patients he had been communicating with online.

“The information at the conference was wonderful, but being able to meet all of these people who had the same issues that I had—we just fell in love with the people and made dear friends,” said Tom, who noted he learned about treatment options from the experiences of others. He also welcomed the opportunity to sit down with researchers and talk to them in an informal setting. He’s remained an active leader in the MDF community since then.

Becoming an Advocate

Tom said one of his proudest moments came through his participation in the MDF Patient-Focused Drug Development meeting, which was held during the 2016 MDF Annual Conference in Washington, DC. MDF convened the halfday meeting with senior officials from the U.S. Food and Drug Administration (FDA), patients and families, scientists and industry professionals the agency’s understanding of the issues myotonic dystrophy patients face and what they hope to gain from potential therapies.

During a panel presentation that included him and three other people living with DM1, Tom shared his experiences living with DM2, including his daily regimen, which involved taking 21 different pills and two injectable medicines to treat a variety of symptoms related to the disease. This includes treatments for pain, depression, daytime sleepiness, high cholesterol, low testosterone, vitamin D deficiency, and diabetes, as well as treatments to minimize the side effects of drug interactions. He also talked about his use of a BiPAP machine to provide pressurized air while sleeping because of his problem with sleep apnea.

“It would be great if [a future therapy] could somehow reverse any damage that has been done cognitively and to our muscles,” he told the FDA representatives, “but I would be very happy if we could simply stop the progression for now.”

Though his disease continues to progress—he’s had to cut his water aerobic workout down to 30 minutes a day from 55 minutes—he tries to remain as active as possible. He calls his wife a “wonderful caretaker” who provides him with support, hope, and confidence while allowing him to do everything within his abilities. He recently went inner tubing on the snow, but admits he paid a price. He suffered pain for a month after that outing before going to a doctor and finding out that what he had dismissed as muscle pain from overexertion was a broken foot caused by a fall during his adventure.

Despite his condition, he considers himself fortunate. He does not use a wheelchair, he doesn’t require oxygen, and his disease progression has been slow. He has no interest in self-pity and encourages others to stay optimistic.

“Don’t let your disease bring you down emotionally,” he said. “Find things that make you happy. Be as positive as you can be about the situation.”

For Haley Laue, the episodes would always begin in the same way. She would start to feel pain in the roof of her mouth and then her throat would begin to hurt. She knew what would happen next. Within two hours of developing those first symptoms, she would start to gag, vomit, and spit up phlegm in a fight to clear her lungs and get air into them. 

These episodes could last for two days, and as long as they would persist, she would be too frightened to lie down for fear of drowning in her own mucus. During the episodes, which started when she was in junior high school and came at the rate of about once a month, she wouldn’t eat, drink or sleep.

In the end, she would become so dehydrated that her parents would need to take her to the emergency room where she would be given fluids intravenously. Her mother Teri Laue, a retired medical assistant and pharmacy clerk, tears up when recalling the trauma of seeing her daughter gasping for air. "She couldn’t breathe," said Teri. "It was the scariest thing."

Getting a Diagnosis

Haley, 22, is now a part-time college student living with her parents in El Dorado, California, about 30 miles east of Sacramento. At the age of 14, doctors diagnosed her as having myotonic dystrophy type 1 (DM1), but only after a difficult five-year odyssey that included a lack of understanding from school officials and physicians who didn’t seem to take her health problems seriously. In school, she had a history of learning disabilities, which teachers dismissed as attention deficit disorder (ADD), encouraging her parents to put her on medication. They refused. She would often get drowsy in class, and teachers would suggest she was not getting enough sleep. When she complained of chest pains in the school gym, they thought she was lazy and just wanted to sit out. 

Doctors weren’t much better. When Teri knew something more serious was going on than ADD, she told doctors that her mother had the hormone disorder Addison’s disease and suggested that Haley be tested for that disease. At first, doctors refused, and getting them to conduct testing was a fight. When Haley’s lung problems began to develop, her mother pushed doctors harder, eventually getting to the myotonic dystrophy diagnosis.

Her father Jim was diagnosed shortly thereafter, although at the time he displayed only mild symptoms, primarily myotonia, or cramping in his hands.

The problem Haley experienced with the episodes of choking on phlegm were caused by the progressing DM1. But a life-changing moment came for Haley and her family when they attended the 2012 MDF Annual Conference in San Francisco, which they learned about after a geneticist pointed them to the organization. 

"It was comforting to be there and have all these people around us who were there to help," said Teri, "and to learn about these different studies going on." 

The conference was eye-opening for Haley, who for the first time, had the opportunity to meet and speak with other people her age who also had DM1 during a youth group at the conference. 

"Haley loved it," said Teri. "There were a smaller group of kids that talked about their experiences and how DM affects their life. Wow! She liked talking to them. There were other kids out there that were going through things like she was and had the disease like she had." Haley is still in touch with other young adults she met at the conference.

Finding the Right Tools

But the moment that proved transformational for her and her family came at the conference when they met representatives of Hill-Rom Respiratory Care who were displaying a device known as The Vest Airway Clearance System. 

The Vest, which looks a little like a purple life jacket, has two hoses that connect it to a small white box. Known as a high-frequency chest wall oscillation device, it is activated when a user squeezes a bulb connected to the device and causes it to begin vibrating intensely to loosen phlegm in the lungs. These devices are used by patients with various types of lung disease, such as Chronic Obstructive Pulmonary Disease, cystic fibrosis and bronchiectasis.

"I couldn’t believe there was such a product out there," said Teri. But when she reached out to her daughter’s pulmonologist with excitement to tell her about the miracle device, Teri was livid to discover that not only was the doctor familiar with them, but they had been around for years. She could not understand why the doctor never suggested that Haley use one. 

The doctor tried to explain by pointing out that a price of $10,000 each, they were costly. As it turns out, the family’s health insurance policy included medical equipment coverage and paid for the device. 

Haley now uses The Vest twice a day for about thirty minutes each time. Prior to using The Vest, she takes a five-minute treatment of saline with a nebulizer, a device that turns the saltwater solution into a mist that she inhales to help loose mucus in her lungs. Today, Haley sleeps better, is happier, and no longer suffers from phlegm-vomiting episodes. Her father has begun to use The Vest as well, as his disease has progressed to his lungs.

"If I had had to pay $10,000, I would have paid $10,000 for this," said Teri. "She has not had an episode throwing up at night since. It’s been years."