Special Attention Helps a Son With DM

Steven and Hamsa Kiryakoza first heard of myotonic dystrophy (DM) from a doctor who asked to shake Hamsa’s hand in November 2007. Six weeks earlier, Hamsa had delivered the couple’s first child, Steve, at a community hospital near their home in Farmington Hills, Michigan. Born not breathing and unable to move on his own, Steve was quickly transferred to University of Michigan Hospital for full-body cooling, a treatment to prevent any long term injury due to potentially having reduced oxygen to his brain during birth, then back to the ICU at the community hospital, while the doctors continued to puzzle out what might be wrong with him.

Through this entire six-week period, the couple was at Steve’s bedside 12 to 16 hours every day. So when one of the ICU doctors showed up and pointedly asked to shake Hamsa’s hand, her first thought was that they were being congratulated on their caring and diligence. Hamsa was just puzzled. “First he asked to shake my hand, and then he said, ‘Let go’ - and I couldn’t let go,” she recalls.

“Ok,” the doctor said. “We need to get him checked out, but I’m almost positive he has myotonic dystrophy,” explaining that the inability to release a grip (myotonia) was a common symptom of a genetically inherited form of muscular dystrophy that she might have passed to her son.

Two weeks later, another doctor showed up to confirm the diagnosis and to confess that she really didn't know very much about DM. “She handed us a bunch of printouts from the NIH and the hospital and told us she’d put us in touch with a neurologist,” Steven recalls. A week later, with Steve finally strong enough to make it outside the hospital, the young family went home.

Looking for Information

Following Steve’s diagnosis, Steven dove deeply into the internet in search of information about DM. “I spent what must have been weeks on the computer,” he recalls, “just reading about the condition, reading other family's stories.” Among the contacts he found online was Lisa Harvey, the former executive director of Myotonic. “Her daughter is a little older than Steve,” Steven says, “and I learned a lot from what she told me about her experiences. Hamsa and I were just trying to learn as much as we could.”

Today, Steve’s care is coordinated at the University of Michigan. He sees specialists in neurology, cardiology, and physical medicine and rehabilitation. He also sees a nutritionist and is monitored by a sleep apnea specialist. At seven years old, Steve is doing so well that he visits most of these doctors only once a year. “We've seen Steve get bigger, stronger, and improve with very few setbacks, and we've been extremely thankful for that,” Steven says.

But Steve does require special care and attention. For example, he is nonverbal, not toilet trained, and doesn’t eat by mouth, symptoms that qualify him for the local school district’s program for students with severe multiple impairments - special schooling for which the Kiryakozas are grateful. The eight students in Steve’s classroom benefit from the attention of a teacher, a nurse, and two instructional aides. During the school year, Steve spends some time each day in a mainstream classroom, and in summer, he continues to attend school four days a week “That consistency helps him keep progressing,” Steven says. “We’ve seen a good return on that.”

While Steve doesn't speak, he does find ways to communicate. “He absolutely understands everything we tell him,” Steven says. He knows his name and is receptive when we ask him to do things.” At school Steve has been learning to use a Picture Exchange Communication System (PECS) board to communicate by pointing to images organized in various categories on the board. “He does phenomenal with that at school. We're just amazed at the level he’s able to communicate.”

Now the school is working on getting Steve an electronic version of the system - basically an iPad with an interactive communication board built into it. The teachers have been testing this with Steve, and Steven and Hamsa are optimistic that he will do well with it because he loves technology and already uses an electronic tablet for playing games and watching YouTube videos. “We feel that the added level of technology to help with his communication is going to be a really big benefit for him,” Steven says.

A Sister for Steve

In 2011, Hamsa gave birth to a daughter, Elizabeth, via in vitro fertilization of an embryo screened for DM. “Steve and Elizabeth act like any other brothers and sisters,” Hamsa says. “They love each other, they fight with each other, they scream and yell at each other. But they adapt very well to each other as well. And Elizabeth is defensive of Steve. Her attitude is, don't mess with my brother.”

While Steven and Hamsa have been pleased to watch Elizabeth hit her developmental milestones, it’s also been hard for them to avoid comparing her to Steve. “Since Steve was the first born, I really didn't have a perspective on how he should be developing,” Steven says. “Now I see our daughter and everything she's able to do much more quickly - things our son may never be able to do. It's our hope that there'll be a cure for this disease. But right now, it’s hard to see our daughter do all these things that our son can't do.”

Another challenge for Hamsa and Steven is the difficulty Steve has adjusting to new situations, particularly loud environments, where he may bury his face in a parental shoulder and cry. They’ve tried to take Steve to a baseball game and a hockey game - sports he likes to watch on TV - but in both instances, “it was horrible for him,” Steven says. They hesitate to travel by air, because they know how difficult it is for Steve to fly.

And, of course, they have to plan for their son’s special needs around feedings and toileting.

“We have to assess every situation and ask, 'How is our son going to do? How is he going to fit in?'” Steven says. “You can't just decide you're going to do something and do it tomorrow.”

Off to Camp

It was with some uneasiness that last year Steven and Hamsa signed their son up to attend an MDA summer camp about 100 miles from their home. They knew the camp would provide a high degree of personalized attention for Steve, but they were concerned enough about his ability to adjust that they stayed in a nearby hotel in case they needed to pick him up. Sure enough, on the second day they did get a call - but only to assure them that Steve was loving camp life, climbing trees and riding horses.

It was a watershed moment, Steven recalls. “That he could spend a week doing things that any other kid would do - that really put huge smiles on our faces. It was one time that it really didn't matter that he was different. He was allowed to be a child.”

Hamsa agrees: “When they called and said that he was having a great time, it was a weight off my mind knowing that he could be away from me and not be afraid.”

If Steve does well at camp again this year, Steven and Hamsa say, then maybe next year they will consider a trip away with Elizabeth while Steve is at camp, perhaps to Disneyland or somewhere else it would be hard for Steve to visit. “We want to be sure we're not limiting our daughter because our son can't do some of these things,” Steven says. “We’re trying to find the right balance to allow each of them to be able to do things that other children want to do.”

Speaking Out for DM Support

These days, Steven and Hamsa spend a lot of time sharing what they’ve learned about DM and raising support for DM causes and research. They established a local DM support group and tell their story to a variety of groups, including firefighters and postal carriers. “We’re just trying to get our story out there,” Steven says. “The disease can be pretty abstract to people until they hear a family actually talk about their experiences. This brings home to them the reality of the disease - hearing from someone in their community who is affected.”

The family is also active in Myotonic activities, especially the Myotonic Annual Conference. “We go every year,” says Steven. “It’s almost like a mini-reunion for us. We meet a lot of the families we’ve talked with over the years and get caught up on what’s happened over the last 12 months. We've got Facebook and other social media, so we do stay in touch regularly online, but that's not the same as actually talking to people face to face. Then on top of that, hearing from the researchers and experts and learning about potential therapies - it all makes these conferences invaluable to the community.”

The couple is particularly grateful that the 2014 and 2015 Myotonic Annual Conferences, both held in Washington, DC, provided an opportunity to make the case for DM funding to legislators. “Legislators need to realize that there are people in their communities that are affected by this disease,” Steven says, “and that we need funding to help find treatments.”

Steven and Hamsa hope that research may ultimately lead to treatments that will help Steve, but until that happens, they are trying to give him as much of a normal childhood as possible. “I don't want him labeled a disabled child, because he’s not,” Hamsa says. “To me he's not. To me he's just a normal little boy with a few issues.”

Taking DM Patient Advocacy to the Next Level

When Karl Valek tested positive for myotonic dystrophy (DM) in 2006, the diagnosis was not a complete surprise. Karl and his wife, Carolyn, who live near Columbus, Ohio, knew that both of Karl’s younger sisters had recently been diagnosed with DM after years of declining health. Karl, at age 42, was experiencing symptoms, including worsening of a general fatigue that had begun in his twenties. He tired quickly during the day and would even fall asleep while driving. A career geologist, Karl transitioned to less demanding, part-time work.

Karl and Carolyn struggled with the diagnosis. “We told ourselves that the disease wouldn't be as progressive as it had been in his sisters,” recalls Carolyn. “We had to work through our feelings of denial, anger, sadness, and frustration - all the things you go through when you're grieving. We've come to understand that in a long-term chronic disease, you grieve each loss of normalcy.”

It has been nearly a decade since Karl tested positive for DM. With the help of a leg brace and ankle-and-foot orthotic he is still walking, but Karl now has what he calls a “laundry list” of symptoms treated by an army of doctors. In addition to excessive daytime sleepiness, he experiences respiratory weakness, swallowing problems, gastrointestinal ailments, cardiac conditions, hypothyroidism, and other endocrine issues.

As Karl’s symptoms progressed, Carolyn stepped in as his full-time medical case manager and advocate. In 2012, she retired early from her job as a communications specialist for a large company and went back to graduate school where she earned a certificate in patient advocacy.

“I learned to navigate the medical system - to help with his medication and his insurance and to be sure that he had all the right coverage,” Carolyn recalls.

“She knew to ask the doctors the right questions,” Karl adds.

Finding a Medical Home

After Karl was diagnosed, Carolyn sought out information on the Myotonic website. “All those resources were helpful,” she says, “especially the ones on occupational therapy and anesthetic risks. And I found the health supervision checklists very effective.” Carolyn created a binder with a section on each of Karl’s body systems affected by DM. She took notes, asked questions, and secured a printed summary of each doctor’s visit to include in the binder.

One big effort she undertook was to create a central medical home where all of Karl’s needs could be met. Now, his nine doctors and therapists are associated with the Ohio State Wexner Medical Center in Columbus - and all are familiar with DM and its complications. (Learn more about the importance of having a central medical team.)

Carolyn’s knowledge and experience came in handy a few years back, when the Valeks' son Scott, now 19, was also diagnosed with DM. During his school years, Scott had been diagnosed with ADHD and autism spectrum disorder. He was a budding actor in school, but Carolyn began to notice that increasing weakness in his facial muscles was making it harder and harder to understand what he was saying. Then Scott began to experience excessive sleepiness and reduced stamina.

“As Scott’s executive functioning declined and the diagnosis was confirmed, I was immediately able to get him connected with the right people and to get a good baseline so we could see how the disease was progressing,” says Carolyn. Today Scott and Karl go to many of the same doctors. Carolyn believes that her experience with Karl made it much easier for her to help her son.

The goal of Carolyn’s work as a patient advocate is to slow down the progression of the disease as much as possible by knowing enough to get the right medications and treatments to extend and improve quality of life. “For Karl the goal is to stay out of a nursing home. My goal is to support that vision for him,” she says. She points to new medications and a cardiac pacemaker that are making Karl’s life easier. And she and Karl agree that the last few years have been pretty good ones. Karl hasn't had pneumonia, nor has he taken a serious fall, both of which he suffered in the past.

The couple also sees social improvements. Carolyn encouraged Karl to join the local senior center, where he joins friends for a weekly current events discussion and then a group lunch. “The person with DM can still find joy and interesting things to do,” Carolyn says. “You just have to encourage them to get out of their comfort zone and do things with other people. Socialization is so important. We arrange frequent visits with family and friends, which Karl really enjoys.”

A Mediterranean Cruise

One big treat for the Valeks came in the form of a Mediterranean vacation in 2011. Karl has always loved to travel. In talking with other families living with chronic illness, Carolyn hit upon the idea of a cruise. Cruise ships employ onboard doctors and a cabin with a balcony would provide a place for Karl to rest each day and gaze out to sea in comfort. Karl was even able to join the family on a tour of Venice, with Carolyn maneuvering him from a wheelchair into a vaporetto water taxi.

While Karl doesn’t usually use a wheelchair, it does help him conserve energy while traveling, Carolyn says. “It often takes a village of family members and caregivers to support the DM-affected person when they travel - but that person does not need to feel helpless. When we flew to Europe, Karl helped out at the airport by rolling an upright suitcase on wheels with each hand as I pushed him in the wheelchair.”

“Some of these things are still possible,” Carolyn says. “You just have to be patient.”

“It helps to approach travel with a sense of humor,” Karl adds. “And you need to do it while you still can.”

Sharing What They’ve Learned

Having found the Myotonic website so helpful in her own quest to understand DM, Carolyn offered to become a warm-line volunteer for Myotonic. She talks to family members, answers their questions, and points them to resources. She and Karl founded Myotonic’s Ohio Support Group. “Maybe it’s a mother or grandmother,” Carolyn says. “They want to talk to another family dealing with this disease - someone who understands myotonic dystrophy.” Carolyn also participates in Myotonic's webinars and the monthly Myotonic Virtual Caregivers Support Group, and she has contributed recipes to “Myotonic Cooks,” a cookbook created to share community-generated recipes that are both satisfying and easily swallowed.

As part of her certificate program in patient advocacy, Carolyn conducted an online survey of DM-affected individuals, caregivers, families, and friends, with questions focused on the challenge of health care management. She organized and analyzed her survey responses into a presentation called “Advocating in the Clinic: Educating and Supporting Your Doctors,” which she presented at the 2014 Myotonic Annual Conference in Washington, DC.

Carolyn and Karl also have been active in legislative outreach, joining TeamMyotonic in Washington, DC, to advocate for increased federal funding for DM research. “You feel you are helping yourself when you do the legislative advocacy,” Karl says. “We might not find a cure in time to help me, but we might help my kids.”

“If we’ve made a difference in someone else's life by volunteering, that is its own reward,” Carolyn adds. “When Karl's was diagnosed - that was a very difficult time. But you can't stay there. If you stay, you're stuck. There are a lot of lessons that come out of dealing with this disease - and they’re not all negative. Karl and I have never been closer. And if we can share the blessings we have experienced, we can give other people hope for how they can get more out of life day by day.”

John Fitzpatrick and Kristen Vassallo remember the day their twins, Jack and Ellie, were born with mixed emotions. Ellie was born wailing and thriving, but Jack was clearly in trouble. “He came out blue and not breathing,” John recalls. “This was a surprise to the doctors and everyone there.”

The baby was resuscitated and then whisked off to a ten-day stay in the neonatal ICU, while doctors ran all kinds of tests and pondered what might be wrong with him. One night, unbeknownst to his parents, a pediatric geneticist examined Jack and ordered yet more tests. Four weeks later, long after a much-improved Jack had come home from the hospital, Kristen got a call from her pediatrician. The tests had revealed myotonic dystrophy (DM).

“It was probably the worst day of my life,” Kristen recalls, “getting the diagnosis and then asking my pediatrician, ‘Is this bad?’ and having him respond, ‘Yes, it’s bad.’”

“We had no idea about this disease,” Kristen recalls. “We did what I think most families do - we got on the internet.” This was back in 2005, before much information was available. (Myotonic was launched 2 years later, in 2007.) “What we saw were horrible, horrible images of this disease,” Kristen says, “and we really had no understanding what we were dealing with.” Within a few months, Kristen also tested positive for DM, while Ellie, Jack’s twin, tested negative.

A decade later the professional couple from Austin, Texas, have learned a great deal about DM and are active in efforts to educate others about the disease. And the message they preach from their experience is one of hope. “If we were told when Jack was diagnosed that this was where he would be ten years later, we wouldn’t have gone through the agony we experienced then,” Kristen says. While their son does have symptoms of his disease - weakness; developmental, learning, and social issues; some orthopedic problems - his life has not been devastated as John and Kristen once thought it might be.

In fact, Jack is doing pretty well. “And he is so loved,” Kristen says. “Children just flock to him. It’s the most amazing thing.”

Ellie tells Kristen, “I’m known as Jack’s sister throughout the school.”

A Special Relationship

Early on after Jack was diagnosed, his pediatrician predicted that the boy’s relationship with Ellie would be a boon to both children. “It will be good for him to have this unaffected, normal, high-achieving sibling, because he’ll always have this high bar, to be just as good as his sister,” Kristen recalls the doctor saying, “and your daughter will be more compassionate and have a better sense of the way things can work out fairly and unfairly in the world.”

Which has turned out to be true, Kristen says. “In my opinion, Jack would not be where he is now - which is doing really wonderfully - without Ellie. He’s had to keep up with her his entire life. She was an early walker, and he needed to run after her, so he figured out how to walk. And Ellie cares deeply, not only for her brother, but also for other children in the world. She sees differences in people as interesting and special.”

Ellie is protective of Jack. Kristen recalls her daughter overhearing a conversation in which she and John were discussing a new drug trial for DM and how one day there might be a cure for the disease. “What would that mean?” Ellie piped up. “I don't want Jack to change.”

“They’re best friends,” Kristen says her children, “probably more important to one another than John and I in many ways. We call them the old married couple. They fight like crazy and drive one another crazy, but they can't live without each other.”

Kristen and John try to keep in mind that while Jack has special needs because of his disease, he also has unique needs simply because he is Jack - and that Ellie has her own needs. “Ellie has had her challenges,” Kristen says, “and while you might think they were minor compared to Jack’s, they have been important to her. When they were babies we used to laugh that we had a special-needs child and a high-needs child. Every child has different ways they need you.”

Reaching Out Through Myotonic

During the tumultuous time immediately following Jack’s diagnosis, Kristen learned through her mom, Mollie McKool, that efforts were afoot to launch a DM foundation in the US. That work blossomed into Myotonic, and Kristen attended the organization’s first conference.

“Meeting people with the disease was in some ways very scary, but in other ways very powerful,” Kristen recalls. “As a mom, you spend a lot of time asking, why did this happen? And you talk with these other moms and they are dealing with the exact same issues. John and I really believe in Myotonic. It’s so powerful and so needed. Now it’s a very hopeful experience every time we go to a conference. It’s really special”

John’s involvement with Myotonic also began at a conference, where he felt the same power in connecting with fathers and husbands in DM families that Kristen had with the mothers. After a few years as an Myotonic volunteer, he joined the board of directors, where he has put to work the skills learned in a lifetime as a teacher, educational administrator, and foundation director. He has been impressed by the organization’s growth and its growing impact working toward Care and a Cure. He points particularly to the myotonic’s Fund-a-Fellow program, support for research, conferences, “and all the different efforts to give families and people living with myotonic dystrophy better quality of life.”

Back home in Austin, the couple reach out whenever they hear of a new area family affected by DM. Kristen connects with the moms, and John might invite a dad out for a beer, just to talk. Over the last few years, they’ve bonded with several other families in town, include one with twins in which one twin is affected by DM - an almost identical situation to their own.

Kristen is particularly focused on the unaffected siblings, like Ellie - believing that they should have a way to connect and share experiences the same way mothers and fathers do. Looking ahead for their own kids, the couple’s goal is for both Jack and Ellie to lead independent lives - that Jack gets the support he needs to do that, and that Ellie is able to flower in her own life without feeling responsible for Jack.

“We want our message to be one of hope,” John says. “With the kids turning ten, this is the anniversary of that first really hard year. We’ve been so much more successful - Jack has been so much more successful - than we could have imagined. We're hopeful for the future and so appreciative for all the friends and families and doctors that have helped us along the way. There really is a way to fight through this disease - to have a great family and a great life and make everything work.”

In 2001, when Kristin Korsgaard was pregnant with her first baby - her son, Jackson - she mentioned to the clinic staff that her husband’s father was affected by some form of muscular dystrophy. But the staff was focused on her health and prospects for a successful delivery. “We want to know about conditions on your side of the family,” she was told.

Three years later, the fourth-grade teacher from Concord, California, was pregnant with her second son, Logan, but by then one crucial fact had changed. Her husband, Aaron, had begun to experience myotonia in his hands and had been to a neurologist for testing. He called Kristin on the phone while she was driving home from work one day. “They say I have myotonic dystrophy.” At first, Kristin misheard him - she was so sure that he was fine. But once she understood, the news “hit me like a ton of bricks,” she says. “For the first time in my life, that I couldn’t even talk to anyone about what was going on. I couldn't even face my parents and tell them.”

At her next prenatal ultrasound appointment, she brought up the subject with the ultrasound technician. “You know my husband has just been diagnosed with myotonic dystrophy.” The technician didn't seem troubled at first, but she left the room and soon came back with several colleagues. They stopped the ultrasound, and began to explain what the disease meant for her family.

”“They said, ‘this can be inherited through either the mother or father, and your child will have a 50 percent chance of getting it,’” Kristin remembers. “Suddenly it hit me that they were talking about both my kids. It was a very emotional time.

Now concerned that Logan might be born with physical problems, the clinic scheduled extra specialists for his birth. “I remember looking around and seeing all these people in the delivery room. It really upset me,” Kristin recalls. But when Logan was born, he seemed fine, like a normal baby.

In fact, it’s unclear as yet whether Logan has myotonic dystrophy. While Kristin had her older son tested, because he seemed to be having some disability and weakness (that test was negative), she has not had Logan evaluated. And while Logan does not have the facial characteristics or, so far, the physical infirmities sometimes associated with DM, he has had problems with hyperactivity and lack of attentiveness in school, and he has required speech therapy and occupational therapy.

Kristin and Aaron are deciding whether or not to have Logan tested. “But there are things you need to do first,” she says. “You need to be sure you’ve secured good insurance, and you need to prepare yourself emotionally for knowing. It was wrenching when I had my older son tested,” she says.

Teenage Sweethearts

If you had known Kristin’s husband, Aaron, in his teens, you would not have thought he could be affected by a genetic neuromuscular disease, Kristin recalls. “When I was 17, my best friend took me to meet this very cool skateboarder. Two weeks later we were dating. We’ve been pretty much inseparable ever since.”

And skateboarding - Aaron’s skills were near-professional level - was not his only physical talent. He was also an expert snowboarder and motorcyclist, and for a while he made part of his living photographing motorcycling and motorcycle racing, a grueling occupation. He began working at 14, and as a teenager worked three jobs. He had a million hobbies, Kristin recalls, and he was very physically active right through his twenties.

The couple married young, in part because Kristin was headed off to college at UC Davis and there was housing there for married students. They were twenty years old “and we were going to be together no matter what, so marriage was the next step,” Kristin remembers. “All I wanted to do was to marry Aaron.”

After Kristin finished college, the couple worked at various jobs around California. For a while, Kristin was a production and personal assistant in the movie industry and Aaron worked as a manager for Caffino, a string of coffee shops. Eventually, they moved back to the Bay Area to start their family. Aaron graduated from the Academy of Art College in San Francisco and launched a decade-long career in photography, new media, and DVD authoring. Kristin finished up a teaching credential and a Master’s Degree in Education in 2004, just as her second son was born and the family learned of Aaron's DM diagnosis.

Once the diagnosis was made, Kristin and Aaron were able to look back and see signs that might have pointed toward DM. For example, even as a teenager, Aaron’s feet had hurt, and Kristin had asked then whether that might be related to Aaron’s father’s muscular disease - no, she was told, it was only flat feet. Later, when Aaron’s affinity for active sports led to inevitable injuries, his body had a very hard time healing. At one point an ankle cast was so painful that the doctors diagnosed him with “cast anxiety” when it now seems clear to Kristin that the “muscles were constantly cramping underneath and there was no way to move or relieve the myotonia.”

In the decade since his diagnosis, Aaron has slowed down a lot. While he’s still mobile, he tires easily, for which he takes medication. For a while, there was some concern that he might be depressed, “but through a lot of conversation with counselors and doctors, it was determined that he just doesn't like having this disease and that he wasn’t happy. It was never determined that he had depression. We continue to work on communicating our feelings and working through difficult times with the help of others,” Kristin says.

Aaron maintains many of his old interests. He fixes motorcycles and is active in shooting sports, instructing in hand gun safety and working on high-end firearms for competitive shooters. And he has primary responsibility for the kids during the week while Kristin is teaching. “He does everything for them,” Kristin says, “which can be a real challenge. Aaron doesn't look disabled, so other people don't always understand his disease. For example, if the kids are late for school, the staff may not understand that he’s just having a hard time getting started that day. Or people may not get why he would rather stay home than go into a crowded and confusing environment when he is so exhausted and doesn’t feel well.”

Kristin is beginning to think about changing her own professional path so she can be home more. “It’s getting harder for him to raise the kids. He does a great job, but it’s exhausting. It’s something I’m struggling with; I want to spend these prime years of our lives together as much as possible.”

Learning About DM

After Aaron’s diagnosis Kristin and Aaron gradually began seeking out information on DM. In 2009, they took a big step by attending the Myotonic Dystrophy Family Conference in Manhattan Beach, California. Kristin was particularly impressed by the way doctors were making an effort to collaborate with patients. “That collaboration is so important,” she says.

Kristin has made a lot of friends attending Myotonic Annual Conferences and through her involvement in support groups and online communities, and she makes an effort to point other families to the reliable information resources she’s come to trust. “If you’ve gone through it yourself, you want to make sure that people go to the right source for information,” she says. “You hear from a lot of discouraged people - it’s is a very discouraging disease - and I want them to know some of the things I wish I had known early on.”

But conferences also can be difficult for patients, she says, and sometimes her husband does not attend. “It’s hard because they see patients in the later stages of the disease, at different cognitive levels, for example, and that can be scary. Caregivers get a lot of support and information at conferences, but they can be hard for the patients.”

One conference the whole family attended was the 2014 Myotonic Annual Conference in Washington, DC. Kristin spoke at the meeting, and the family went to Capitol Hill to advocate for increased funding for DM research. “The boys got to speak to lawmakers and even the Surgeon General of the United States about having a father with muscular dystrophy - that was life changing for us,” Kristin recalls.

The couple were particularly pleased that they could tour the boys around Washington, and that Aaron was able to make the trip, get around fairly easily, and that they could design their days around Aaron’s limited physical energy. “That’s our biggest goal right now,” she says, “is to do things while we can. That's the message I hear from others - do what you want to do now, don't wait.”

For Belen Esparis’s daughter, Emily, the road to a myotonic dystrophy diagnosis began during an eye doctor’s appointment when Emily was seven years old. The optometrist examined Emily’s eyes and said he was concerned. The young girl’s eye muscles were weak, he told Belen, adding that the condition was probably congenital and that other muscles might be involved as well.

Belen is herself a physician, and head of the sleep disorders clinic at Mount Sinai Medical Center in Miami. She and her husband, David, a businessman, came to the U.S. in the 1990s from Venezuela and have one other child, Emily’s older brother, Max.

With her medical background, Belen took Emily’s optometrist’s concerns seriously. But when she took those concerns to Emily’s pediatrician, she was told that because she was a physician she was overreacting. “I left that appointment thinking I might be crazy,” Belen says.

But to be sure, Belen decided to take Emily to a neurologist, who did an EMG muscle test and told Belen, “I don't know what’s wrong with her, but her muscles are abnormal.” It would take multiple blood tests and six more months before a definitive diagnosis of myotonic dystrophy (DM) was finally made. And it came as a complete surprise - as far as Belen and David knew, no one in either of their families had been affected by the hereditary neuromuscular condition.

“Looking back, we should have realized that some of what we were seeing in Emily’s development wasn’t fully normal,” Belen says. During the pregnancy, Belen had the sense that Emily was as not as active in utero as Max had been when she was pregnant with him. At birth, Emily had a suffered a collapsed lung, had to be intubated, and was in the ICU for ten days.

“This clearly wasn’t normal,” Belen recalls, “but when we asked about it, we were told, ‘it happens.’”

Emily had been a floppy baby, and her development seemed delayed. So Belen and David arranged for physical therapy for their daughter. Emily walked just before she turned 18 months old - the limit of what is considered normal - and was generally a little behind in developmental milestones.

“Otherwise she seemed like a normal child,” Belen recalls, although by the time of Emily’s diagnosis, she was beginning to display other symptoms that might be related to her DM. For example, she showed decreased facial expression - which Belen and David assumed was just part of her personality. At school, where she was in the first grade, she was easily distracted and falling asleep in class. As a sleep specialist herself, Belen now knows that “DM is associated with every sleep disorder in the book.”

Reacting to a Diagnosis

Belen and David’s reaction to Emily’s diagnosis was markedly different, Belen recalls. In general, David was slow to become concerned, telling Belen that Emily seemed to be doing fine. “But as a physician, I knew what could be coming,” Belen remembers. “That’s all I could see in my head at that point. I could see her in a wheelchair - that’s not what I wanted for my daughter. David didn't understand.”

“That’s one way in which the Myotonic Dystrophy Foundation (MDF) helped us,” Belen remembers. In 2012, shortly after Emily’s diagnosis, the couple decided to attend the MDF Annual Conference in San Francisco. Belen believes that this was when David began to grasp the implications of the disease. “We were in the check-in line and he began to cry. ‘Why are you crying?’ I asked him. He said, ‘All the attendees look like Emily.’”

David agrees that the conference provided a profound education about DM. “Even if I had read about the disease, it’s not the same as meeting hundreds of people affected by it - kids, brothers, husbands,” he says. “There were all different levels of the condition at the conference. You got to see and talk to them. What also struck me was doctors saying how little they know about this condition. One of the leading DM physicians was asking for help from patients, saying we ‘don't have any data.’ A biotech company researcher came to talk. When you hear about the research you get a perspective on how important it is.”

Supporting MDF

Since that meeting, Belen and David’s relationship with MDF has deepened. As a physician and native Spanish speaker, Belen has helped to create a Spanish translation for the MDF Toolkit and spoke on DM and sleep disorders at the 2013 MDF Annual Conference. But their main focus has been to raise money for research. “At the end of the day, that’s the only way we’re going to move forward toward a cure,” David asserts.

The couple has sponsored several word-of-mouth and email campaigns, making a personal solicitation to friends and family. Then they got the idea of participating in the Miami Marathon to raise funds for DM research. They got a group of friends together to run and make donations, and they solicited sponsorships from small businesses, putting their logos on the team tee shirts. David himself ran the half marathon in 2 hours and 45 minutes - “the farthest I’ve ever run,” he says.

“It was more to raise awareness and for fun than for money,” Belen says. Nevertheless, they raised $11,000 for research support through the marathon and have raised more than $35,000 for MDF overall. “People want to help,” she says. “It’s inspiring.”

The three years since her diagnosis have also brought changes for Emily. She has had a full year of physical and occupational therapy and dances 12 hours a week, and her muscles are much stronger than three years ago, her mother says. On the other hand, she been diagnosed with a malfunction of electrical conduction in the heart muscle, known as A-V block, and may someday need a pacemaker or implanted defibrillator to be sure her heart beats normally. She has myotonia in her hands and has begun to experience pain after eating.

While Emily knows she has limits other kids don't face, she has a very good attitude. “I just want her to keep trying,” Belen says.

As a child growing up in South Dakota, Teresa Schmertman suffered from daily headaches - and that wasn’t her only complaint. “I had pain and stiffness in my hands,” she recalls. Because of trouble with her eyes she wore glasses, and had braces on her teeth. Her doctors put her on tranquilizers, because they didn’t know what else to do. “They were grasping at straws,” she says, “trying to figure out why I didn't feel good.”

Today, Teresa is a wife, mother, and paralegal professional, living and working from her home in Plano, Texas. And she now knows that what became a lifelong struggle with discomfort and disability was due to myotonic dystrophy (DM) that was finally diagnosed when she was 18 years old.

The diagnosis of DM1 was a shock but not a complete surprise. Teresa’s two uncles had suffered from DM, and her grandfather died of a heart attack that was probably related to the disease. But the belief in her family was that whatever might be wrong with its men, the condition wasn’t hereditary, and women didn't seem to be affected.

As Teresa matured and her afflictions multiplied, her mother decided that the time had come to explore whether they might be linked to the family condition, and she scheduled an appointment with a neurologist. “My mother didn't want to believe it, but nothing seemed to be helping,” Teresa says today. The neurologist, however, had few doubts. He took one look at Teresa, and from the family history and the shape of Teresa’s face announced almost immediately that she had myotonic dystrophy. A muscle test confirmed his diagnosis. Teresa’s mother was also tested and learned that she had DM.

“Well, that explained why I couldn’t ever keep up with my siblings when I was riding my bike.” Teresa says. “Suddenly it all made sense.”

Eventually, two of Teresa’s four siblings - a brother and a sister - would display symptoms of DM, beginning in their 30s. And her sister’s son - born before the family was aware of the condition - would display many symptoms from a young age. “It just shows how it gets worse with every generation,” Teresa says.

Living With DM

“The diagnosis was like having the rug yanked out from under me,” Teresa recalls. “I was 18 years old, finally on my own, going to college. I went through several emotional weeks, alternating between anger, self-pity, and the stubborn refusal to let the diagnosis get me down.”

In fact, through Teresa’s twenties, the disease made itself felt only in gradual changes. “You live your life and you adapt,” she says.

In 2002, when she was 33 years old and living in Minnesota, she married Doug Schmertman, an engineer. The couple decided not to have children because of Teresa’s hereditary condition. But after a few years, they began to think about adoption. Her brother had adopted two boys from Ethiopia, and Teresa and Doug decided to follow suit, falling for school-aged brothers, Muluneh and Sebsebe, who wanted to be adopted together.

“We knew we had a lot of love to give and they’re the sweetest boys ever,” Teresa says. The couple chose older boys because Teresa knew that she wouldn't have the strength to care for younger children. And from the start, they knew Doug would have to be very involved with raising the boys - and he has been, supportive in childrearing as in every aspect of the marriage.

Over the years the couple was raising their boys, Teresa’s DM began to affect her mobility more seriously. “You go along for a while, and gradually you understand that there’s one more thing you can’t do,” she says. There came a time when she could no longer wear high heels. She began to fall with increasing frequency. For the last two years, she’s been in a wheelchair.

Recently, Teresa and Doug made a long-planned move from Minnesota to Texas to take advantage of its warmer climate. Teresa was concerned at first that she wouldn't be able to find work, but she soon found employment through a former coworker. She works at home as a contractor about fifteen hours a week (which is about right, she says). Sometimes it’s hard to be stuck at home, but because of her disease, she needs a warmer environment than she would find in most offices and she needs other conveniences home can offer. Working at home, she can control her time. “I need to rest a lot,” she says.

Finding Myotonic

In 2010, while still living in Minnesota, Teresa learned that Myotonic was sponsoring an informational conference in Minneapolis, and she and her family decided to go. “It was so close to home, we thought ‘why not?’” she recalls now.

What she heard that day kicked off a growing engagement with Myotonic and its work. She has made monthly donations to Myotonic since 2011 and now honors her parents by making donations on their anniversaries and birthdays as well as Mother’s Day and Father’s Day. “My parents have most everything they need, and what they want most is healthy children,” she says.

Teresa also launched a community fundraising project, CURE, which stands for “Creating Unstoppable Research Efforts.” Reaching out to an extended network of family and friends, she began a letter-writing campaign encouraging donations via the Myotonic website, raising money from eight states and three countries and organizing a Dine Out for DM fundraiser at a local Buffalo Wild Wings restaurant.

“But I’ve learned its not really about the money, she says. It’s about a passion for the cure. And that’s where my passion lies - a cure for the disease - second only to my passion for my family. I want a cure for myself - and for everybody else.”

She tries to go to the national Myotonic Annual Conference every year. Her parents now join her. “And my baby brother comes too - he’s a huge advocate even though he does not have the disease himself.” (Of course, the whole family is affected by the disease through the members who do suffer from it, Teresa says.)

She finds the conferences inspiring. “You meet people who’ve been exactly where you are. It’s so uplifting to learn about the research - people out there devoting their careers to find a cure for your disease. They are doing that for me. That’s very humbling and inspiring. There’ve been so many advances since I was diagnosed. The researchers are amazing people and I am so grateful to them.”

The high point of Teresa’s involvement in Myotonic’s work came during the 2014 Myotonic Annual Conference in Washington, DC, where she joined the Myotonic on Capitol Hill and lobbied US Senators John Cornyn of Texas and Amy Klobuchar of Minnesota in support of Myotonic’s work. She also had the honor of presenting a Myotonicaward to Senator Klobuchar, who introduced a bill to support and expand research into the muscular dystrophies. “That was such an uplifting and rewarding experience,” Teresa says, “perhaps the most rewarding moment of my life.”

Over the long years since her diagnosis, Teresa has gradually come to understand that while she lives with this disease, it is not her identity. “I’m not sick, my body is,” she asserts. “My wheelchair doesn't define me - it’s just a tool, like a pair of glasses. I can’t say I accept this disease, but I do accept that I have to battle it. You have to be stubborn because you have to fight every day. But I can be free in my heart. To me that realization is super powerful.”

This June, the International Myotonic Dystrophy Consortium (IDMC) returns to Paris, the site of its first meeting in 1997, to celebrate its 10th conference. IDMC, a global association of myotonic dystrophy researchers, physicians and healthcare professionals, promotes research and facilitates efforts to find viable DM treatments and a cure. A large team of organizers and scientists is working to bring together the international myotonic dystrophy community, but one volunteer in particular, Alain Geille, has put his heart into the work.

A Diagnosis Becomes a Labor of Love

Alain Geille is a research engineer from Bordeaux, France. In addition to his day job, he serves as co-head of the DM1 group of the Association Française Contre les Myopathies (AFM), a partner of IDMC-10. He brings a real understanding of the disease to AFM because his involvement with DM is very personal. His son Benoît, now 20 years old, was born with the congenital form of DM1. After giving birth, his wife Catherine began to show signs of the disease and was diagnosed as well.

"When Benoît was born, he could hardly breathe or eat on his own," says Alain. The newborn stayed in the hospital for care and testing, and was eventually diagnosed with DM. After about six weeks, Benoît's breathing and eating became more normal and he was allowed to go home. "He has struggled with symptoms throughout his life," says Alain, "but he's a happy kid. He doesn't complain." Catherine's symptoms are mild and include mainly leg weakness. As a result, like many other DM families, the Geilles live with the impact of the disease every day.

AFM Delivers DM Resources and Support Throughout France

Alain's work with myotonic dystrophy extends far beyond his family: as co-head of the DM1 group, Alain volunteers at AFM every day. The organization is a leader in connecting DM families throughout France with information, resources and support. The AFM DM1 group organizes five to ten meetings per year across France that feature presentations by doctors, researchers, psychologists, and other professionals working in the field. Importantly, these presentations are designed to be two-way interactive discussions. "The scientists learn as much from the patients as the patients learn from the professionals," Alain emphasizes. "It's important for researchers and physicians to understand the experience of those living with the disease."

The DM1 group is nationwide, and there are about 25 AFM regional divisions and 80 local delegations in France to better assist families in their own communities. Each region has an AFM office where patients can go for information. According to Alain, "if patients are unable to get to the local AFM office, the regional divison can send a representative to that person's home. There, the representative can provide information and help patients solve problems, including filling out paperwork required for care and treatment, and even helping with room and furniture arrangements."

IDMC-10 Conference Will Be Available Worldwide Via Livestream

In addition to his regular work with AFM, Alain is now busy helping to coordinate the interactive family session of the IDMC-10 conference. The Paris meeting will host an expanded program for DM patients and family members, with whom conference attendees will have the opportunity to interact and answer questions. "The community here is so excited about the event," Alain says. "This will be a real opportunity for sharing and support." AFM is collecting questions from patients all over the world that will be posed that afternoon to the researchers in attendance. The IDMC-10 committee plans to broadcast the conference via livestream and capture it on video for posting online.

"Conferences like this are empowering for people living with DM and their families," notes Alain, "not only because they learn about the latest research and advances in treatment directly from the professional community, but also because they connect with other DM community members, hearing their stories and how they've managed symptoms and provided optimal support." Alain's personal experience with myotonic dystrophy has made him an invaluable member of the DM community in France. This year, the international DM community will reap the benefits of his dedicated efforts as a family member, caregiver and volunteer leader as well, via an exceptional conference family session.

A Story of Hope and Recovery

Sarah Berman distinctly remembers the day seven years ago when she and her newborn daughter Zoé first met with a physical therapist. Zoé, who was diagnosed with congenital myotonic dystrophy shortly after birth, had very little muscle strength and could not move on her own.

"The therapist asked me, 'What are your goals for your daughter?'" Sarah recalls. "There was a child's toy sitting on the table. It was a top that you had to press to make it spin," she explains. "I remember telling her, 'I want my daughter to be able to play with that toy.'"

That day was the start of what Sarah calls "an amazing journey." She spent hours every morning moving Zoé's arms and legs, and the therapist came once a week to sing and play with her daughter. Zoé also received weekly physical therapy at the local hospital.

The hard work and early intervention paid off. "They told me Zoé would likely be permanently confined to a wheelchair, but now she walks and even runs," says Sarah.

Sarah's determination and her belief in her daughter's abilities have remained constant since then. With the support of her husband David, she has sought out the best treatments, services and programs available near their San Francisco Bay Area hometown of Piedmont, California.

Today, Zoé is an active and busy girl. In addition to her school schedule, she receives special tutoring and physical, occupational and speech therapy. She also participates in hippotherapy, a treatment approach that uses movements characteristic of a horse, usually through horseback riding, to provide motor and sensory therapy. Sarah feels this exercise in particular has been very helpful to her daughter, and co-led a presentation on the benefits of working with hippotherapy during the 2014 MDF Annual Conference.

Tackling Multiple Challenges

As Zoé has grown, Sarah has observed other conditions that can accompany a congenital DM diagnosis. More recently, social issues at school have started to emerge and Zoé is enrolled in a social play group to help foster interaction with others.

"There are always new challenges, but Zoé is really a trooper. Nothing fazes her," Sarah explains.

In addition to her role as caregiver for Zoé, Sarah has had to balance care for herself as well. She was diagnosed with DM1 after Zoé was born, and her family subsequently discovered that her father, brother, and other extended family members were also affected.

Support from the MDF Community

While the impact of DM on her family has been far reaching, Sarah says that connecting with the DM community has helped her tremendously. One of her greatest sources of support and information has been the virtual MDF Caregivers Support Group, where she is able to get and share advice and input on issues that arise. Sarah's connection with MDF has also given her a newfound sense of purpose. She helped facilitate a webinar for parents of children with congenital DM, attended the MDF Annual Conference for the first time this year, and has enrolled herself and Zoé in several DM research studies.

"The MDF community is my extended family," says Sarah. "The support I've received has been tremendous - I've met so many amazing people who I have so much in common with."

Sarah feels empowered by the opportunity to share her message and reach out to other parents. She regularly posts to a blog she launched entitled "Zoé's Latest Adventures and Other Stuff." Though the project was started as a way to share her day-to-day experiences with family and friends, Sarah was pleased to learn it has been helpful to other parents raising children with DM.

"This disease is a marathon. It's a life-changing experience," comments Sarah. "It's made me a better person - someone who wants to be involved and to help others along the way.

National Family Caregivers Month is Here!

Caregivers are in many ways the backbone and the heart of the myotonic dystrophy community. In honor of MDF's community caregivers and National Family Caregivers Month, this month's family story focuses on the experiences and wisdom of one DM caregiver. Meet Larry Lord, architect and community volunteer living in Atlanta, Georgia, who is a single father of two grown sons living with childhood-onset DM.

Larry Lord, DM Caregiver

Though semi-retired as an architect, Larry's days are very full juggling work, his myriad community service and volunteer activities and care for his oldest son Hunter, 38, who lives with him. Larry's younger son Ashby, 33, lives in an apartment nearby. Ashby is the more independent of the two, but both sons hold part-time jobs at local nonprofit organizations where Larry volunteers. The sons are both financially dependent on Larry.

Larry's wife Shannon, who was founding Chair of the Myotonic Dystrophy Foundation's Board of Directors and the driving force behind the creation of MDF, passed away last year. Shannon's passing was unexpected, and Larry has worked hard to reestablish a sense of balance and find much-needed support in his life.

Finding Support and Advice

Adjusting to life as a single father has taken some time. Larry explains that advice from a senior living consultant helped him learn how to begin finding balance and manage daily living. She advised him to keep a minute-by-minute list of every activity he performed during the week. He then divided the list into items he felt he absolutely needed to handle himself and ones for which he could ask for help. "It takes a while to realize that you don't have to do it all," he explained. "Over time you can start to think of some things differently and realize that maybe you could get somebody to help do this."

As a result of this strategy, Larry has made some adjustments, including hiring his neighbor to help out. She comes daily after Larry leaves for the office or volunteer work to wake up Hunter, prepare his breakfast and take him to work. His son Ashby picks Hunter up from work and takes him to dinner when Larry has to be out of town. Larry also has colleagues from his old firm and colleagues who work with Hunter who have volunteered their help in emergencies.

Leaning on the MDF Community

For Larry, support from the MDF Community has been particularly rewarding. He is pleased to see how the community has evolved since his wife gathered together the first MDF group of families back in 2005. The need for support is ongoing, Larry notes, adding that sharing information and advice is a crucial element he and others should include in their lives.

Larry's local DM support group meets regularly and he receives a call or email about once a month from someone with a question or helpful information. "DM is such a complex, variable disease. I'm not an expert; no one is really an expert. We have to reach out to each other and help one another figure things out as we go."

The support group has been a steady resource and sounding board for Larry as his family life evolves. Caring for Hunter is a process that is constantly changing. Whether searching for ways to increase Hunter's recreational time or managing his increasing leg weakness, Larry says there are multiple topics on which he seeks advice from others.

Taking Care of the Caregiver

While DM caregivers are seldom off duty, Larry says it is critically important that caregivers take care of themselves. In addition to the support group and his wide range of friends, his morning cup of tea and his Sunday visits to church are the times Larry takes to reflect and relax. He notes, "You have to make sure you are strong enough to be the caregiver. When you get on an airplance they tell you, 'In case of emergency, put on your oxygen mask first and then help the person next to you.' If you don't care for yourself, you won't be able to support the ones you love."

Three years ago, Sarah and Sam Pontifex of Adelaide, Australia, had never heard of myotonic dystrophy, but their three children were experiencing shared symptoms that they knew could not be the result of mere coincidence. Unfortunately, when they consulted doctors they were repeatedly told that Lucy’s extreme fatigue, Sophie’s club feet, Harry’s speech and motor difficulties, and all three children’s developmental delays were unrelated. Although some of their questions were answered when Sam and all three of the children were diagnosed with DM1, they continue to feel that those around them – including their doctors – do not fully understand what a diagnosis of myotonic dystrophy really means and what the impact of the disease has been on their family. 

As the family caregiver, Sarah has had to navigate the medical, therapeutic and educational landscapes on her own. “It often feels like a long and lonely journey when everyone else around you seems so mainstream,” Sarah says. Sarah and Sam have often been told that they are simply overprotective parents, that their gastrointestinal issues are due to stress, and that their children will outgrow their symptoms as they get older. When Sarah discovered the Myotonic website earlier this year she finally received validation that what her children and husband were experiencing was typical for a DM diagnosis and that their struggles were very real. 

Speaking to other Myotonic community members has been enormously helpful for Sarah and Sam. Earlier this fall, Sarah made a trip to California and for the first time met with others impacted by myotonic dystrophy. She also met with the Myotonic team to learn more about the disease and the resources available to her. The family plans to attend the 2015 Myotonic Annual Conference in Washington, DC, in order to continue their education and build a supportive network of others engaged in the DM journey. 

Though Sarah hasn't met other Australians with myotonic dystrophy, she has been able to connect with Myotonic community members through the Myotonic Caregivers Group, the Myotonicwebsite, and the Dispatch newsletter. She particularly enjoys the family stories. “They are heartwarming and provide me with a great deal of comfort and inspiration,” she says. “Whenever I feel a little bit lonely or isolated from friends, I always turn to Myotonic’s website and its wonderful resources.” 

Throughout the month of November, Myotonic will celebrate caregivers like Sarah from around the world by featuring their stories during National Family Caregivers’ Month.