A Journey from Nurse to Caregiver

Even though Donna Boulmay spent a career as a nurse before retiring, she lived most of her adult life in the midst of a medical mystery that had shaped much of her family’s existence. That changed shortly after her grandson Jackson turned five years old.

Jackson had been to several doctors throughout his young life for concerns ranging from lethargy to speech problems that made it difficult for him to make himself understood. But in 2010, when a neurologist diagnosed the boy with myotonic dystrophy (DM), the blur of the family’s past came into sharp focus.

Donna had never heard of the disease. Even some of the doctors who had treated her family members were unfamiliar with it. But as she scoured the internet for information about myotonic dystrophy from her home in Baton Rouge, Louisiana, and learned about its many manifestations, she saw her family’s past from a new perspective. It would take Donna nearly two years to build an understanding of myotonic dystrophy, reach out to others with the disease, and find hope through the work of Myotonic.

A Family Affair

The neurologist who diagnosed Jackson would that same day diagnose Donna’s daughter Heather, then 36, with the disease as well. Months before, while preparing a birthday party for Jackson, she would complain to her mother that she was unable to blow up balloons, but hadn’t thought much about it. Now, the diagnosis explained longstanding eye problems. In fact, Heather and her brother Billy’s eyes never quite closed when they slept, something Donna had dismissed because her husband had been the same way. It turned out, though, that these were symptoms of myotonic dystrophy.

Eventually, Donna divorced her husband because of a growing list of behavioral problems that drove her crazy. She had been frustrated by his inability to make decisions and failure to show up for family events when he was expected. After the divorce, he would suffer falls and problems with his executive function intensified, along with growing muscle weakness. He experienced a pulmonary embolism at the age of 66 and died just months before Jackson’s diagnosis.

Donna’s son Billy, then 39, was also diagnosed, with a more advanced case of myotonic dystrophy than his sister. Billy had behavioral changes that began around the time he was 18, but Donna had attributed them to a head injury had he had suffered as a teenager, even though doctors said he had healed completely. As an adult, he had trouble keeping a job because he would constantly drop things. He wrecked his car, developed cognitive problems, and could not seem to keep his apartment clean. He’s suffered numerous falls and is under care for an irregular heartbeat. Donna now understood these problems in the context of myotonic dystrophy.

Finding and Giving Support

It has been a difficult journey for Donna, who gathered what information she could find online about the disease, but she could not talk about her children’s condition without breaking down in tears for the first two years. She realized she needed help and wanted to connect with others who had been through what she was now experiencing. A relative pointed her to the Myotonic, and once again things changed. “It was like someone had finally turned on the sunshine,” Donna says.

In 2012, Donna set up an Myotonic support group. She wanted to help caregivers and non-affected family members understand and navigate the issues they faced with spouses or children who had the disease. “I wanted to meet with people like me,” she says. “I also wanted Heather and Billy to have a chance to meet with people like them."

The support group meets quarterly at the Rosa F. Keller Library in New Orleans, about 80 miles from Donna’s home. (Contact information for Donna’s and other Myotonic local and online support groups can be found online. Meeting times for support groups appear on the Myotonic calendar.)

Donna’s support group has not only brought together DM caregivers with others who understand their challenges and can offer advice, but also helped address very practical challenges. For instance, one woman who approached the support group needed to get a wheelchair for her son, but did not have the financial means to do so. The group connected her to a local community organization that secured the wheelchair for him. In other cases, the group has been able to connect community members to the muscular dystrophy clinic at Louisiana State University and to other resources available through Myotonic.

“Myotonic is phenomenal,” she said. “I’ve belonged to many different groups to my life and this one is just top-notch. It’s just rewarding being part of it.”

Finding Hope

Myotonic has provided Donna with a rich resource of information and connected her to other patients and caregivers, and its support of research helped to change her outlook. Her children Heather and Billy both signed up to participate in clinical trials. Neither have yet been selected, but their information is in the Myotonic Dystrophy Family Registry that connects patients to researchers. She noted that in the last few years, Myotonic's work with the medical community has grown and its voice is being heard with regulators as it seeks to ease the path to approval for potential DM therapies.

“I’m very hopeful that the research being done and the drug studies may possibly lead to a cure,” she said. “There’s more hope than when I started reading about the disease. You can see how people are functioning and their life continues. It’s very uplifting.”

(Pictured: Donna's grandson)

"My kids was my reason for participating in a phase I/II trial of the experimental drug IONIS-DMPKRx," says Zenica Sanford, a 34-year-old mother of four who has adult-onset DM1 and lives in Idaho Falls, Idaho.

Zenica participated in the University of Utah trial site in Salt Lake City. (To learn more about this and other studies and trials, go to Myotonic’s Study and Trial Resource Center on the Myotonic website.)

Three of Zenica’s children also have myotonic dystrophy (DM). Her oldest child, now 12, was diagnosed with juvenile-onset DM1 a year ago, and her 9-year-old son was diagnosed with the juvenile-onset form of the disease at age 2. Her 3-year-old daughter, Andelyne, has the severe, congenital-onset form of DM type 1 (DM1) and is in a study of that condition at the University of Utah. (See Health Endpoints and Longitudinal Progression in Congenital Myotonic Dystrophy in the Current Studies and Trials section of the Study and Trial Resource Center.)

Learning of the Diagnosis

Zenica didn’t realize she had DM herself, though, until 2006, when she was 25 years old and pregnant with her second child. “My brother had been diagnosed, and his doctor recommended that I be tested,” she remembers, although her only symptom back then was some cramping in her hands. “I’m hoping something can help them – or even myself,” Zenica says. “I want to keep up,” she says. “I don’t want the kids to think of Mom as sick and in bed.”

Zenica was one of the very first people to enroll in the Ionis Pharmaceuticals clinical trial to test the first drug that targeted the underlying genetic defect that causes DM1. Participating in a clinical study was a positive experience for her.

“I had heard horror stories about muscle biopsies, but they weren’t that bad,” Zenica says. “It hurts, but my expectations of it were worse. They used local anesthetics, and it wasn’t as painful as I had expected.” The electromyograms felt like a “tingle” in her leg muscle. “Everybody at the trial site was kind, concerned and caring,” she says. But getting to know study coordinator Dr. Missy Dixon has been particularly satisfying. “She’s usually there with me during every procedure,” Zenica says. “I’ve gotten to know her really well, medically and personally. She’s great. It’s always nice to have a comforting face.”

The trial required two overnight hospital stays at the University of Utah. During other visits, the trial reimbursed her for a hotel room conveniently situated near her Utah relatives and convenient to the trial site. The drug trial required tests of physical function, filling out detailed questionnaires, cardiac exams, two muscle biopsies, and some electromyograms, which entail inserting a needle into a muscle.

The Next Chapter

Zenica looks forward participating in future DM1 clinical trials, but she notes that with DM, you may need family support and a certain amount of stamina, and that you need to do your homework on details like reimbursement. “Find out everything about the time commitment and what they will reimburse,” Zenica advises those considering being in a study or trial. In her drug trial, everything has been reimbursed, including mileage, hotel stays and food. However, the research study in which her 3-year-old is participating only reimburses for a particular hotel, one that isn’t convenient for them.

There were times when bad weather and the December holiday season made the three-and-a-half-hour drive to Salt Lake City particularly stressful, Zenica says, but her husband kept encouraging her, and she has had his support with child care. "You need to have family support. But if you have the time and the support, go for it."

Would you like to participate in a research study or clinical trial? Learn more about the process today! Visit the Myotonic Study and Trial Resource Center.

Mary Dowdle, a 40-year-old substance abuse counselor living in Haymarket, Virginia, learned in 2011 that she had DM1, a disease that also affects her sister, Caroline Easterling, and that affected her father during his life. For Mary, the effects of DM1 have so far been manageable – mainly gastrointestinal problems and myotonia – but she watched the toll it took on her father as it disabled him, and she knows what the disease can do.

That’s ultimately what prompted her to participate in a study to find biological indicators (biomarkers) of DM1 disease progression and a clinical trial for IONIS-DMPKRx, an experimental compound that targeted the underlying molecular defect in DM1.

"Being in studies allowed me to learn more about the disease, how the research is progressing, and what they’re hoping will finally answers the questions (about DM)," Mary says. "It gave me more knowledge about what kind of research is being conducted and what researchers hope the outcome will be; it allowed me to be in the loop when all that information comes out."

Go for It, But Be Prepared

Her advice to those considering study participation is, "Go for it, but be fully prepared and know what it is that you’re getting into." She adds, "If people want to get into a study, being part of a registry (see Myotonic Dystrophy Family Registry and National Registry for Myotonic Dystrophy and Facioscapulohumeral Dystrophy or your local country registry for more information) is extremely important."

"Reading the MDF Dispatch every month is really helpful. I encourage anyone who’s willing and able to participate to do so. The main reason for me for being in a study is to move the research forward, so we can eventually find a cure.”

Starring Role

During the biomarker study, which was part of the Myotonic Dystrophy Clinical Research Network (DMCRN) study that concluded in late 2015, Mary’s foot became an unexpected star and won her a seat at a roundtable discussion about new symptoms.

"The researchers at the National Institutes of Health clinic where I participated in the study discovered I had a symptom they had never seen before. It takes my big toes longer to relax after use than it does the rest of the muscles, and they move in an odd way when I release. The toes tend to move upward and then to the side and down. The right one is more profound than the left. So they videotaped my right toe doing that, and I got to be in a roundtable discussion about this new symptom, which was kind of interesting and cool."

Study Staff Supportive

The support from the study investigators and other staff was also a plus. "Dr. Ami Mankodi at NIH [National Institutes of Health in Bethesda, Maryland, a site for the biomarker study] was amazing. She was so nice and accommodating, and she answered all my questions. I was able to reach (study coordinator) Hirity Shimellis, 24-7. Dr. Mankodi gave me her cell phone number, which is usually unheard of with doctors. She was fabulous."

The Ionis clinical trial was a little more demanding in terms of the time required and the number of procedures involved. However, Mary says, "The researchers at Kennedy Krieger Institute (the Baltimore study site for the drug trial) were fabulous. Dr. Doris Leung was our lead person, and I got her cell phone number. She answered all my questions and was extremely personable. All of them were really professional, and they made me feel like I was doing a good thing. They were very appreciative of my being in the trial."

Mary Dowdle and her sister Caroline Easterling participated together in the DM biomarker study at the NIH clinic in Bethesda, Maryland. (To learn more about this and other studies, see the MDF Study and Trial Resource Center. The biomarker study is listed under the Current Studies and Trials tab as "Multicenter Observational Study of DM1".) Both sisters later participated in the study of the experimental Ionis drug at the Kennedy Krieger Institute.

Scientists have repeatedly stated that participation in research studies and clinical trials from community members like Mary Dowdle is critical to finding therapies for myotonic dystrophy. To help get more MDF community members engaged in DM research and support the 2017 Rare Disease Day program, MDF is presenting the Every Body Counts! Campaign throughout the month of February. MDF will award custom lab coats custom monogrammed and autographed by leading DM researchers to the first 10 MDF family members who sign up for new research opportunities.

Sarah and David Berman had never heard of myotonic dystrophy until their baby Zoé was born with the congenital-onset form of the disease, which is known as CDM.

"Zoé couldn’t suck," Sarah recalls. "She was just kind of limp and open-mouthed. She didn’t really cry. She had low muscle tone." Fortunately, Zoé was able to breathe on her own, unlike many babies with CDM, but she spent two weeks in the neonatal intensive care unit and had to be nourished via a feeding tube for awhile.

A Surprise Diagnosis with Implications for the Whole Family

“They brought a group of neurologists in, and they quickly suspected it was myotonic dystrophy (DM),” David remembers. Because CDM is most often inherited from a mother who has adult-onset DM, even if her own symptoms are minimal, they then checked Sarah for myotonia, a delay in relaxing muscles after use, which is a hallmark of adult-onset DM.

“They had Sarah do the handshake test,” says David, to see how long it would take her to relax her grip after shaking hands with a doctor, “and that made them even more confident in their diagnosis.”

Eventually, genetic testing of Sarah’s blood and that of several family members (who live in France) confirmed that she had adult-onset DM1 with minimal symptoms, as did her father, two uncles and one cousin. Her brother, who was 19 when Zoé was born, was found to have the juvenile-onset form of DM1, for which the main symptoms are often cognitive and psychosocial abnormalities.

The diagnosis came as a consolation to Sarah’s brother, who finally had an explanation for many of the issues he had struggled with throughout his life. “My brother had symptoms of learning disability and stamina,” Sarah says. “He would fall asleep in class, so they said he was lazy. They thought he had Asperger’s syndrome, because a lot of people with myotonic dystrophy have autistic-like behaviors, things that are a little bit different, quirky. Zoé’s diagnosis was a revelation, and he thought, ‘Oh, at least there’s a name for why I am different.’”

Perhaps even more importantly, her brother was found to have previously unrecognized cardiac problems related to his DM1 and recently had a pacemaker-defibrillator implanted. (Sarah was also found to have an irregular heartbeat, and she is being monitored by a cardiologist. So far, no treatment has been needed.)

Connecting with the Myotonic Dystrophy Foundation (MDF)

The birth of MDF in 2007 coincided with Zoé’s birth, although the Bermans did not learn of its existence immediately. During Zoé’s first few months, they got help from the early intervention services provided by the state of New York. The help they got was great, David recalls, “but a lot of people that are working with neuro-atypical kids and special needs kids haven’t been exposed to someone with myotonic dystrophy, which has such a wide range of symptoms.”

That, he says, is why finding MDF in 2008, after the family moved to Piedmont, California, in the San Francisco Bay area, was so helpful.

One of the first ways in which Foundation helped them was via the MDF Toolkit, which can be downloaded from the website in several languages.

“That was helpful because it explains what you need to be aware when you’re interacting with doctors and caregivers, such as the dangers of anesthesia.” David notes, “They were able to put that information in our hands right away and make us smarter and more empowered when talking to physicians.”

Since then, MDF has been extremely helpful in providing education, support and connections, David says, adding that MDF has further evolved since those early days.

“The MDF Annual Conferences help foster community, but you also get medical professionals that talk about various aspects of the disease, like gastrointestinal issues, and breakout sessions that get very specific. I come away having learned a lot in a very small amount of time.”

David, who works on the business side of a midsize pharmaceutical company, appreciates the parts of the conferences devoted to discussion of new drug development for DM. “It’s always encouraging to hear that progress is being made, as I know there are often challenges along the way.”

Sarah, who has taught middle school and high school students and now teaches preschoolers, values the educational insights and parent-to-parent connections she’s received through MDF. “I just feel that MDF has really embraced our family,” Sarah says.

In February 2014, Sarah teamed up with other mothers to create a webinar on tips for caring for children with CDM. She also hosts her own blog, Zoé’s Latest Adventures and Other Stuff. “I’ve connected with a lot of families with my blog,” she says.

In addition, both Zoé and Sarah have participated in several observational DM studies that they learned about through MDF, and the Bermans are part of the Myotonic Dystrophy Family Registry, which collects anonymous data from families affected by DM and helps researchers find potential study participants.

Helping Zoé, Looking Ahead

Through MDF, David says, the family has been able to connect with people who are “further along than we are. For us, I think it has been helpful just to meet people in the community and learn about some of the issues they’re facing.”

Sarah, now 44, says her DM symptoms remain quite manageable, although she recognizes that this may change. Her heart and eyes are regularly monitored, and her mobility is becoming somewhat impaired.

“I walk funny,” she says. “If I go on a walk, I need David or a walking stick, but otherwise, I’m pretty mobile. I do Pilates. I try to stay active.”

Teaching 4-year-olds is “the most exhausting job I’ve ever done,” she says. “I don’t know if I’ll be able to do that for very much longer, but I like to be active. I also volunteer at a store where the money goes to the schools, and I volunteer at Zoé’s school quite a bit.”

Zoé, now 8, is in second grade in a public school, with special supports, such as an aide and occupational, physical and speech therapies. “MDFhas given us a lot of advice,” Sarah says, mentioning in particular a conference session on individualized education programs [IEPs] that was really helpful” in planning Zoé’s school program.

The very active little girl has been wearing glasses since she was 4 months old and has had surgery to straighten one of her feet. She uses a transportation chair for long distances and wears ankle-foot orthoses (lower-leg braces known as AFOs) in school. She used a walker when she first started to walk (at age 2), but she no longer needs one.

In addition to her general therapies, Zoé participates in adaptive physical education, swimming, adaptive soccer and baseball, and therapeutic horse riding, also known as hippotherapy. In 2014, Sarah participated in a webinar about this form of therapeutic recreation and was a panelist on the benefits of hippotherapy in children diagnosed with MD at the conference in Washington, D.C.

Now that her daughter is getting older, Sarah says, the social barriers posed by her leg braces, weak mouth muscles and fatigue are more formidable than they were when she was younger.

Sarah hopes someone will write a book for children about the disease. "There’s awareness for autism in schools," she says, but school is a place where her daughter is often misread and misunderstood.

In the classroom, Zoé’s cognition and fatigue require attention and patience that teachers don’t always have. “I have explained to the teachers how her body impacts her everyday life,” Sarah wrote in a recent post on Zoé’s Latest Adventures and Other Stuff, “how her muscles weaken, how her lack of focus and attention stem from this fatigue, how Zoé can do great things if she is given the time to think, if you break down the tasks, if you shorten the exercise, if you give her a chance!”

Sarah has connected with other mothers of children with CDM through MDF Annual Conferences, the MDF website and a MDF support group in Oakland, California. She’d like to start a support group specifically for families with CDM-affected children.

On her blog, Sarah doesn’t sugar-coat anything. “Life is hard and tough, and it is no easy feat to keep the chin up,” she wrote on March 12, 2016. She writes about how hard it is for Zoé in school, where she is often “misread and misunderstood.”

But in the same post, Sarah had this to say about herself and her growing daughter: “I have been thinking about what I wrote a couple of years ago when I first started this blog – how Zoé's disability and mine made me a better person. In fact, I think I was misguided. I am not a better person. I am a different person – different in every way, ready to conquer all challenges, ready to advocate for my child, ready to not let go of the fact that we all deserve a chance.”

Patrick Welker, a retired telecommunications executive living in Dallas, recently married into the DM community and instantly made a young friend when he developed a special bond with his new wife’s 11-year-old grandson, Jack. Jack was born with congenital-onset, type 1 myotonic dystrophy (CDM). Patrick says what helps them connect is that he sees Jack simply “as a young boy rather than a boy with a challenge.” The two have become fast friends and spend time together working on puzzles or playing action games on the computer. Patrick views Jack’s talents and challenges as interconnected.

“I’ll play with him, and quite frankly, I can’t beat him. He has a photographic memory. That’s what happens when you have challenges. You’ve got some things that you’re not so good at and other things that you excel in.” Helping care for Jack helps take care of Patrick too. “Jack just has a gigantic heart. He’s got a big smile on his face when he and I do puzzles together.”

Grandparents Make Life Better

In DM-affected families, where children and a parent are affected, grandparents can be particularly helpful. “The grandparent’s role could be, or should be, that you’re providing emotional support for the parent and the child affected by this disease,” Patrick says. “I think it’s good to have a grandparent come and say, ‘Look, we are a family, we are all in this together; let us help you.’”

“I look at it as a three-pronged role. It’s providing time, emotional support, and financial assistance when you’re able to do it,” he says. Patrick knows that simply spending time with grandkids is one of the most valuable services a grandparent can provide. Not just for the kids, but for the parents too. “I spend a month in California with my two grandsons during their summer vacation. They call it ‘Grandpa Camp’; nothing could be more enjoyable to me.”

“As grandparents, we’re providing the resource of time, which they can’t get anywhere else. We can spend time with our grandchildren and give the parents a much needed break. They need some time to themselves to enjoy each other and know that their children are having fun, are safe and being taken care of.”

The Joy of Giving Back

By the time Patrick met Mollie, a Dallas native and former fashion photographer he would marry, he was no stranger to children with special needs. After he retired, he volunteered at the Children’s Advocacy Center of Denton County [Texas], which serves children who have been victims of abuse, and Christ’s Haven for Children, which provides foster children a home in a ranch environment in the Dallas/Fort Worth area.

“I felt that was something I’d like to do with my time, and my finances were appropriate to provide whatever I could to help these children,” he says. “Quite frankly, I get much more out of helping these children than I probably give.” Mollie was already part of the DM community. At 59 years old, she ran a half-marathon (13 miles) to help raise money for Myotonic. Then, in 2013, she helped launch the annual Myotonic fundraising program known as the Grandparents Campaign.

It was only natural for Patrick to get involved when he got to know Mollie. “After attending two Myotonic Annual Conferences, I knew that I wanted to do more,” he says. “Last year, all of a sudden I got the idea, why don’t I start a support group? I talked to some people at Myotonic and asked how to do that. There was no support group in Dallas, so I put my energy into starting one. We had our first meeting of the Dallas Support Group earlier this year [2016]. The first two meetings have been a great success with the last meeting doubling in attendance to 30 people.”

Patrick lets the group take the lead and tries to meet their needs. I look at my role as a facilitator. “The meetings are not about me at all. I just make it happen.” Patrick has found a deep sense of satisfaction in helping his own family and the larger DM family.

Can you help a DM family today? Click here to donate now!

“Our friends had no knowledge of the disease,” says Lee Baker, “nor had my family. They had no idea what I was talking about.”

Families Helping Families: Ralph and Lee Baker

Until 1988, “I had no idea there was such a thing as myotonic dystrophy,” says Lee Baker, 75, an artist and former school teacher who lives in Roanoke, Virginia and has myotonic dystrophy. Lee and her husband Ralph traveled the world during his 25-year army career. Although Lee was very active, she says she “knew that things were not really right” with her health.

“One of the first things to be a problem was that my tongue would freeze up when I got nervous or emotional. It gets stiff like a board. Then my hands and feet began to do that, and I had started to fall a lot. I didn’t know what was wrong.” In her 30s, when she was teaching elementary school, Lee began having bouts of extreme fatigue that felt like the flu. She went to doctors who misdiagnosed her at various times with lupus, arthritis and fibromyalgia, and treated her with the corticosteroid drug prednisone, which didn’t help.

Letter Led to Diagnosis

Then, in 1988, when she was 47, Lee received a letter from one of her mother’s nieces, who was constructing a family history. Tucked into it was an interesting sentence. “I hope you don’t have myotonic dystrophy,” it said. “Some of the members of our family do.”

Lee had known little of her mother’s family. “My mother had tuberculosis, which got worse after I was born,” she says. “So they wanted her to go out west where the air was clear and dry. My father didn’t go with her. Eventually, I was sent to an aunt and uncle in Kansas, and they raised me.”

After the letter, Lee’s mysterious symptoms began to make sense. She took it to a doctor in Roanoke, who sent her to a neurology department at a local hospital, where a “textbook case” of DM was diagnosed (although there was no genetic testing at that time).

Wanting to Know More

Lee started going to the Muscular Dystrophy Association clinic in Roanoke, but there wasn’t any research going on in that part of the country. “I’m the type of person who wants to know what’s going on, why things aren’t working right, that sort of thing,” she says. Eventually, that curiosity led her to Dr. Richard Moxley in Rochester, New York.

In the 1990s, Dr. Moxley was testing troglitazone in DM, and Lee became part of the study. (Troglitazone, a drug that increases sensitivity to insulin, was later found to cause liver problems, and it was taken off the market.) “I felt like it was doing a little good, but they stopped the trial,” she said. “What I thought was neat, though, is that Dr. Moxley was willing to understand more about how myotonic dystrophy works. Whether or not that particular medicine was helpful, he learned a lot. He would come by in the evening before he left the hospital and tell me what was new, what was going on with the research. I just ate it up. I was very interested.”

Joining the DM Community

The trial in Rochester was an introduction to the DM community for Lee and Ralph, but 2005 marked the beginning of their true immersion in it. That year, the 5th International Myotonic Dystrophy Consortium (IDMC-5) was held in Quebec City in Canada, and they attended it. “That was the first time we’d been to any kind of meeting,” Ralph remembers, and it turned out to be the one from which Myotonic was first launched.

Becoming part of the larger DM community through Myotonic helped the couple almost immediately. “Our friends had no knowledge of the disease,” says Lee, “nor had my family. They had no idea what I was talking about.” Even going to general muscular dystrophy events hadn’t been helpful. “I was maybe the only one in the group that had myotonic dystrophy,” she says.

Since then, Lee has been in several DM research studies, and Ralph has volunteered to be part of the control group when the opportunity presented itself. They’ve learned a lot by going to Myotonic Annual Conferences. “Just being at the conferences – it just blows my mind how much research is going on,” Ralph says.

Helping Others Help Themselves

For Lee and Ralph, the help they’ve been able to offer to other people at the Myotonic Annual Conferences has been at least as important as the help and information they’ve received. “I think in the conferences I have been a help to others with myotonic dystrophy and their families, because I am willing to talk about how it affects me, which helps them know what they might expect,” Lee  says.

She has seen families “totally break apart” when someone develops DM. It can be hard, she says, for family members to truly accept that, “you mean it when you say that you won’t get better, that you’ll get worse. Many times, it’s the children and one parent that are affected, and others that are not affected. It can be hard to keep the family together.”

One family stands out in her mind. “There’s one couple that brings their grandson with congenital muscular dystrophy to the conferences, and Ralph has kind of made friends with Grandpa,” Lee says. The child’s mother has juvenile-onset DM. “They were so stressed the first time we met them, because things weren’t going right. I think he felt a little like a fish out of water. Now we’ve seen them three different times, and we like to say we are old friends. They are truly a part of the DM community.”

She adds, “It’s partly just getting to know other people have this disorder also. You’re not alone in the fight. For the whole family, I say, ‘This is going to make a change in your life. The more you know about what’s happening with your spouse or child, the more you’ll be able to understand.’”

Expecting the Unexpected, Defining Yourself

After 47 years of marriage, Lee and Ralph are preparing to take their first pleasure cruise this spring. They’ve arranged for a power scooter to be delivered to the ship and hope all will go well. They’re looking forward to the 16-day trip that will start in Miami, go through the Panama Canal and end in San Francisco.

They realize there may be some inconveniences and surprises, but they’ve learned to expect such things. “We make assumptions that we have relied on for this cruise that things will be there as they say they will, but until we get there, we won’t know,” says Lee. “That’s just part of it, but it’s a part that you don’t realize is going to be part of it.”

In addition to expecting the unexpected, Lee has lived by the principle that DM “does not define who you are,” and that’s something she’s tried to impart to others in the community.  “I am a painter,” she says. “I have a muscle problem, so I’ve adjusted the way I paint, but I keep painting. I read. You have to keep as much of your own self as possible.”

It's easy to help a family like the Bakers. Click here to support newly diagnosed families today.

At right: "Revelation 21", Lee Baker

It is heavily textured water color paper that is collaged with hand made papers and overlaid with watercolor and acrylic paints with a little bit of green ink.

“Marveling at a sunset, travelling (with help) around the world, laughing with friends and family, or simply encouraging others does not require a lot of muscle strength; it only requires me to look beyond my daily DM related challenges.”
~ Joachim Boekelmann

Christina has been in several DM studies. “I first got involved in a study because of my dad, he asked me to get involved,” says Christina Sterck, a 39-year-old middle school science teacher in Elkins, W. Va. “Now I’m doing it because I’m a science teacher. I’m a naturally curious individual. The more we can learn about myotonic dystrophy, the more other people can be helped.”

Christina is now in a study supported by Myotonic and others to determine the best ways to measure the effects of type 1 myotonic dystrophy (DM1). It's being conducted at several U.S. sites that are part of the Myotonic-sponsored Myotonic Dystrophy Clinical Research Network (DMCRN). (For details about this Multicenter Observational Study of Myotonic Dystrophy Type 1 and other studies, see the Myotonic Study & Trial Resource Center and select the Current Studies and Trials tab.)

Christina originally participated in an earlier stage of this study at the University of Rochester study site in upstate New York and is now in a later stage of the study through the site at the National Institutes of Health (NIH) in Bethesda, MD.

“The more we can look at someone who is very able-bodied and watch the changes that occur over a period of time, the more we’re going to learn,” she says. “Participation in research has helped me learn more about my disease and how the condition may shape my future.  It’s a neat experience if you’re open it.”

Christina herself is still able-bodied and very active, surprising the investigators with requests to use a stationary bicycle and go on walks while participating in the research at the University of Rochester. But her father, who had DM1 and died four years ago, was seriously affected, retiring from his shipping and receiving job on disability after muscle weakness and daytime sleepiness made it impossible for him to continue working.

During her visits to NIH, Christina has undergone muscle biopsies, strength testing and other measurements, all of which have intrigued her. “The doctors find it hilarious that I am so competitive. I always try to beat my previous time on the tests,” she says.

She hasn’t found study participation difficult and has enjoyed the travel and hotel stays. “I’m a big traveler,” she says. “I think everything is fun.” The food at NIH is good, and the dietary staff accommodates lactose and gluten issues, she adds, but the cookies at the hotel where she stays are “awesome – hot, gourmet chocolate chip.”

Christina has particularly enjoyed getting to know study coordinator Jeanne Dekdebrun in Rochester and now study coordinator Hirity Shimellis in Bethesda, MD. “The relationship is really positive,” she says. “We text back and forth, and she walks me around while I’m there and checks in with me.” All questions have been thoroughly answered, even those Christina asked regarding how NIH handled a patient with Ebola virus.

Her advice to people with DM who are considering joining a study is that they “get specific information and read it over to be sure it’s the kind of study you want to participate in.” She herself isn’t interested in a drug study, but she knows there are plenty of people who are.

“I’m a teacher,” Christina says. “The more I can encourage people, the more I feel I am achieving what God has put me on this planet for. Every day, even if I’ve had a hard day, I know why I’m on this earth. I know my purpose here is to educate people.”

Join a registry, or sign up for a study or trial today.

Participating in a study to determine the best ways to measure how people are affected by DM has been “worth it all day long,” says Susannah Savitsky, a 46-year-old attorney from Parrish, Fla. “It’s had a huge positive influence on my life.”

It’s been very, very easy,” Susannah says. “There’s one day of testing, a Tuesday. I fly up [to the National Institutes of Health in Bethesda, Md., from Florida] on Monday, and I fly home Wednesday. They have a travel agency that does all the planning and arranging. They pay for the travel and for a nice hotel. I make a little vacation out of it.” She’s had time to do some sightseeing in nearby Washington, D.C., on one trip and plans to take the whole family next time she goes to the study site.

Susannah has adult-onset DM1, and so far her symptoms have been minimal. On the other hand, her 69-year-old mother, who has the same disorder, has experienced severe weakness, as well as serious cardiac and respiratory problems. She has an implanted pacemaker-defibrillator and is on invasive ventilation at home, all of which has helped convince Susannah to take action.

“I want this to be the last generation to go through this,” she says. “I want to do whatever I can to end this. I think the end of myotonic dystrophy is in sight, and I want to be part of it.”

Being in the study, Susannah says, has been informative and rewarding. “So many times, medical professionals have not heard of myotonic dystrophy,” she says. “When you tell them about it, they get that glazed look in their eyes and say, ‘You look OK to me.’”

At NIH, it’s a different story. “You’re surrounded by people who understand the disease and who can answer your questions. It’s awesome. There are so many things that happen with DM, and you wonder if it’s just that you’re getting older or if it’s the progression of the disease. Even if they don’t have the answers, the people at NIH can say, ‘This is what we’re seeing with other patients.’”

Susannah believes that “everyone should do what they can, for themselves and for the disease. Even if nothing comes of it, you get a sense of not sitting back and taking it, of doing something productive. You’re doing something positive in a negative situation, taking action against the disease. They don’t have answers yet, but these studies are working toward answers.”

Join a registry, or sign up for a study or trial today.

When Mary Childress was in her thirties, she’d wake up in the morning with her hand clutched in a very tight fist. “I’d have to use my other hand to pry my fingers open, and it was painful to do it,” she recalls 30 years later. “I never mentioned it to my doctor. I just thought it was just some kind of strange quirk I had.”

In her forties, Mary became unable to lift her head when she was lying flat, a condition that she and her husband, Ed, attributed to her chronic bad back. Then she began tripping when climbing the narrow staircase in a friend’s home. Ed began to get very concerned. “Is it normal to fall going up the stairs?” he asked.

Finally, in her mid-fifties, Mary shared this constellation of symptoms with her primary care doctor, who sent her to the neurologist Mary still sees today. When an EMG test of Mary’s muscles produced the characteristic sound associated with myotonic dystrophy (DM), the neurologist pronounced herself 99 percent sure they’d identified the cause of Mary’s pain, weakness, and stumbling. “I want do a blood test to be sure,” the doctor told her.

DM in the Family

Mary and Ed Childress are a team. They met at 14, married at 19, and have been deeply dependent on one another since. Ed worked in defense systems for the federal government for years, and Mary worked in billing in a doctor’s office. The couple, who are now retired and live in Chesapeake, Virginia, have two daughters—Tawnya, 43, and Amy, 41—and five grandchildren.

It was her grandchildren—particularly a set of twins who had just been born—that were foremost in Mary’s mind in 2005 as she waited apprehensively for the result of her blood test for DM. In those weeks, Mary had searched the Internet for information about this genetic condition. She had learned that there were two types of the disease, and that babies could experience serious symptoms from a congenital variety of DM1.

“I’d been sitting on pins and needles,” Mary recalls. So when the doctor’s office called her at work, she demanded to be given the results over the phone. “Yes, you have it,” the neurologist said. “But doctor said I had type 2,” Mary said, “so then I knew the babies were ok.”

Looking back, Mary and Ed now understand that DM had probably been affecting Mary’s family for generations. They’re pretty sure Mary’s father had it—he died at 53 after years of back and leg pain, stumbling on stairs, difficulty getting out of chairs and other symptoms Mary would later experience herself. “Every surgery he came out weaker,” Mary says. And after Mary was diagnosed, a neurologist told her older brother that he too had DM. He has since died.

A few years ago, Mary’s older daughter, Tawnya, a fit, competitive runner, began experiencing sudden cardiac arrest. When she went to the Mayo Clinic in Minnesota to have surgery for the condition, she also tested positive for DM2.

“So my father and my brother had it, and now my daughter has it,” Mary says. “I’m hoping my other daughter doesn't have it and that none of the grandkids have it.”

Being Your Own Advocate

Mary’s initial response to her 2005 DM diagnosis was to try and fight the disease. “I’m not going to have muscle weakness,” she told herself. “I’m going to beat it.” She launched into a physical therapy program, but in retrospect, she says, “I think I knew then that I was pushing myself way too hard.” By then end of 2007, Mary’s doctor was telling her to ease up and to leave work—that it was just too much stress. “After she left, it took six to eight months for her to get caught up on her rest,” Ed recalls.

“Ed says I’m hard-headed, because when I can't do something it becomes a challenge – I’ve got to figure out how to do it,” Mary says. Her primary care doctor has told her, “with your disease, I think that’s probably an asset.” Like other DM patients, Mary sees a lot of doctors. In addition to her primary care physician and her neurologist, she sees a cardiologist who monitors the loop recorder that constantly tracks the activity of her heart, and a gastroenterologist for her GI symptoms. While she can't say enough good things about all of her doctors, she and Ed have had to educate most of them about her condition, which is so rare that most physicians don’t encounter it.

Which is why Mary’s cardiologist makes a special request of Ed whenever the couple goes to a Myotonic Annual Conference. “I want you to get your hands on anything you can bring me pertaining to DM.”

Even the genetic counselors who counseled the family after Mary’s diagnosis had no idea what myotonic dystrophy was, Ed says. “They had stuff they’d printed off the Internet. I think Mary informed them of a lot of things they didn't know about.” And when Mary suffered a small stroke in 2014, none of the ER doctors had any experience with DM. “It was kind of scary,” Mary remembers. “I was trying to explain DM to the doctors. Of course I was weak, but from DM, not necessarily from the stroke. You have to be your own advocate.”

Mailing Cataracts to England

In 2008, Mary had the opportunity to contribute to DM research after learning that she had cataracts in both eyes, a condition that can occur much earlier in life for people with DM. DM cataracts have a characteristic look, sometimes described as similar to Christmas tree lights. In her internet research Mary had run across a request from Dr. Jeremy Rhodes at the University of East Anglia, Norwich, who was looking for DM cataracts to study. “I would love to get your cataracts,” Rhodes told her. But what he really wanted, if there was a way Mary could arrange it, was to also get photos of the cataracts before they were removed.

Before long, Mary found herself in front of a machine at the Lion’s Eye Bank at the Eastern Virginia Medical School surrounded by doctors and students looking at the rare DM cataracts in her eyes. They sent the photos off to Dr. Rhodes and after the surgery, they gave the cataracts to Ed, who mailed them off to England. It was the first time the researcher was able to examine DM cataracts before and after removal.

A few years later, Mary and Ed encountered Dr. Rhodes at an Myotonic Annual Conference in Florida. Mary walked up to him and pointed to her nametag. “Do you recognize this name?” she asked. “Why Mary,” he responded. “I’ve been projecting your eyes on a screen here all week.”

Handy Around the House

Mary is slowing down these days. She gets more tired in the daytime, and little things can be harder to do. But Ed is a big help. “I couldn't do it without him,” she says.

A long-time hobby woodworker and always handy around the house, Ed has modified their home in ways that are very helpful to Mary while not being obvious to visitors. He’s installed extra handrails on some staircases and small pull handles on some doorframes (to help with that last step, after the handrail ends), and he has built portable half-steps that can be added to a staircase when Mary is too weak to negotiate full-height steps. And he’s become adept at boosting Mary out of chairs so elegantly that most people don't even notice he’s doing it.

But Ed’s most popular helping device are the “pinchers” he builds for Mary—and for other people who learn about them and decide they need a set. Similar to the grabbers sold in medical supply store, Ed’s pinchers are made from wood with rubber grippers and of different lengths depending on their intended use. He’s made perhaps 60 or 70 of them so far. Mary uses them to weed the garden and for dozens of other uses. “I can’t bend over anymore, but I can pick up anything with them,” she says, “my purse, a penny off the floor.” She uses them every day.