3 Tips for Research Participants to Make Every Body Count

Published on Wed, 07/13/2016

Caroline Easterling, a former preschool teacher and mother of 11-year-old twin girls has been in two recent DM 1 studies. She’s learned a lot along the way and has solid advice for anyone who wants to make a contribution to the greater good by taking part in research.

1. Do Your Homework

Each study and trial has unique requirements. Find out exactly what those are before you get started. 

For example, drug trials may include side effects. You need to understand the potential consequences of side effects, including how they might impact your daily life during the trial.

Another issue to consider is the time commitment. One study Caroline participated in was close to home. That made it very easy to keep up with appointments. However, another was located more than an hour away. It even required some overnight hotel stays. This presented more of a challenge, especially with child care. With advance planning and family support, Caroline was able to make it work.

“You want to be able to see it through to the end, so find out all the information you can,” says Caroline. “You’ve got to make sure you can do the time commitment. Find out about any side effects ahead of time. You’ve got to be willing to deal with the side effects.”

2. Line Up Support

It’s great to have support when you try something new. Studies are no different, and your research team is there to support you. Don’t be afraid to ask questions, and let them get to know you. Caroline found that her team was a great source of support, not just for the study, but also for her DM concerns. 

“It gave me the insight that people really care,” she said of the researchers she worked with. “They were very willing to answer my questions and give me information. They were happy to help me with family life stuff that I was having issues with. They talked about what may be coming next for me down the line.”

Let your friends and family know what you will be doing and that it may require some changes to your usual shared routines. Caroline and her husband knew they would need to swap some household responsibilities in order for Caroline to participate. With her husband’s support, she was able to fit the studies into their family schedule.

“Make sure your family is OK with the time that you’re asking from them. My husband had to take the kids to school and pick them up. It’s not just you who has to deal with the time," says Caroline.

3. Get a Study Buddy

Having a friend to share an experience with always makes it better, and the buddy system applies to research too.

Caroline’s sister, Mary, also has DM1 and has been in both studies with her. “I lucked out to have someone like my sister to hang out with me,” Caroline says. “We accompanied each other to each appointment.”

Do you know someone who would also be a good candidate for a trial you are considering? Let them know about it, and see if you can participate together. Or maybe you have a friend or family member who can make time to share the drive and attend appointments with you.

Challenges to research participation can be minimized with education, support and advance planning to smooth the way. Caroline emphasizes the rewards. “Research studies are important, because they give us insights that we wouldn’t otherwise have,” says Caroline. “A research study will help the greater good, and I’m hoping one may help me.” 

Caroline took part in a study to find DM1 biomarkers (indicators of disease progression), through a site at the National Institutes of Health (NIH) in Bethesda, Maryland. She is also part of a trial by Ionis Pharmaceuticals to test the safety and tolerability of DMPKRx, an experimental drug that targets the underlying molecular defect in DM1, through a site in Baltimore. 

Find out about studies and trials you can participate in.


Understanding the Genetic Causes of DM: Evaluation of the role of Other Gene Variants

Published on Thu, 06/30/2016

Myotonic dystrophy is characterized by considerable variability in signs and symptoms that involve multiple body systems. In addition to variations resulting from repeat length and tissue-specific somatic repeat expansions, we know that gender can influence disease phenotype. Yet, there is a general lack of understanding of factors underlying heterogeneity of the DM phenotype. This warrants further studies of genetic factors, including the potential for additional disease genes and genetic modifiers.

Dr. Simone Rost and his colleagues at the University of Würzburg have explored the potential involvement of genetic variants in determination of DM-like phenotypes and recently published their results in the European Journal of Human Genetics. The team started with a cohort of 5,280 patients with a primary clinical diagnosis of DM evaluated in the Würzburg molecular genetics lab over a 10-year period. Of the cohort, 38% had repeat expansions in DMPK or CNBP, while a relatively small portion of the cohort (< 0.5%) was found to have mutations in genes associated with other types of muscular dystrophy (e.g., FSHD1, LMNA, PABPN1). 

A subset of the patients lacking the traditional DM1 and DM2 repeat expansions, but with DM symptomology verified by neurological exam, underwent further genetic analyses. No additional pathologic variants were identified in DMPK, CNBP, or CUGBP; patients were also free of mutations in 27 other muscle disease genes. The study identified three unrelated patients with potentially pathogenic variants in MBNL1.

Mice with mutations in Mbnl1 appear to phenocopy mice containing large DMPK repeat expansions, consistent with the known role of Mbnl1 in the pathogenesis of DM. To evaluate potential splicing changes due to the MBNL1 variants, the Würzburg team performed splicing assays for six genes that are mis-spliced in DM1, using peripheral blood leukocytes from the three patients. The authors failed to identify splicing alterations, but acknowledge the potential tissue specificity of DM mis-splicing.  

Taken together, Dr. Rost and colleagues have linked MBNL1 variants to a DM phenotype. However, despite careful analysis of thousands of patients with DM-like symptoms, only a small number of MBNL1 variants were identified. These findings suggest that MBNL1 mutations may not be more than a minority contributor to DM, and thus other potential gene variants or modifiers should be prioritized for population studies.


Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.
Larsen M, Kress W, Schoser B, Hehr U, Müller CR, Rost S.
Eur J Hum Genet. 2016 May 25. doi: 10.1038/ejhg.2016.41.

MDF is pleased to announce the following grant awards in partnership with the MDF UK, London, UK.

Published on Thu, 06/30/2016

Endpoint Award

Dr. Donovan Lott, of the University of Florida, has successfully competed for support of his project, “Development of Magnetic Resonance Imaging as an Endpoint in Myotonic Dystrophy Type 1.” The award is for one year, at $150,000. 

Dr. Lott’s group has extensive experience in developing skeletal muscle MRI as an endpoint measure in neuromuscular disease, including their ongoing interactions with FDA to obtain biomarker qualification. There have been very few imaging studies of myotonic dystrophy skeletal muscle. Given the considerable potential of MRI, an assessment of the feasibility of the approach in DM is essential.

Drug development in myotonic dystrophy (DM) enjoys an important advantage—having the tools in hand to show that a drug candidate gains access to and modifies the primary cause of the disease. Since expanded repeats in DMPK (in DM1) and CNBP (DM2) sequester MBNL1 protein and cause easily assessable molecular (mis-splicing of a large set of genes) and physiological (myotonia) changes, we can get an early signal in Phase 1/2 trials that a candidate therapy engages and modulates a key drug discovery and development target.

The existence of clear endpoints for early stage clinical trials helps de-risk DM for investments by pharmaceutical and biotechnology companies. By contrast, the development of endpoint measures that either establish, or are surrogates for, a clinically meaningful benefit is a clear need for Phase 3 trials in DM, in order to gain regulatory approval for a drug or biologic.

With the objective of meeting this critical need, MDF issued a Request for Applications to identify and support a project with the objective of developing new, clinically meaningful endpoint measures or refining endpoint measures already in development. Dr. Donovan’s project received the highest rating from the MDF peer review panel and was selected for funding.

Dr. Donovan’s team will complete a project in 25 DM1 patients. In these studies, they will quantitatively assess upper and lower limb muscle status by MRI and relate findings to a battery of functional measures, thereby taking the first steps toward development and qualification of MRI as a sensitive and non-invasive biomarker for clinical trials in DM. A qualified endpoint measure, with established linkage to clinically meaningful outcomes for patients, will make each of our clinical trials considerably more efficient and informative.

UK Natural History Grant 

Professor Hanns Lochmuller and Newcastle University are being awarded a $125,000 grant to extend a natural history study of 200-400 adult DM1 patients. 

The Newcastle group is currently funded by the UK National Institute for Health Research to recruit and collect natural history data on the DM1 cohort for one year, through March 31, 2017. MDF funding will leverage this existing funding to allow Professor Lochmuller and colleagues to reach the upper end of their recruitment target and to extend the duration of data collection from this valuable cohort for an additional year. Data collection involves a wide variety of endpoints, with the aggregate data assisting in the planning, design, and recruitment of future clinical trials, as well as supporting identification of putative biomarkers of DM1.

Robust natural history studies are critical to the development of endpoint measures that reflect clinically meaningful benefit for use in registration trials. MDF and MDF UK are pleased to be able to leverage other grant funding to increase the value and impact of this study.

New Findings on Quality of Life in DM2

Published on Tue, 06/07/2016

There has been relatively little research on quality of life for DM2 patients, and DM2 is often considered “less severe” than DM1. However, a new study identified a subset of DM2 patients who are impacted as severely as those with DM1.

Dr. Dusanka Savic-Pavicevic and colleagues recently published a comparison of genetically confirmed DM2 and DM1 patients using a variety of quality of life measures.

The research team found no differences between DM2 and DM1 in the overall and physical composite scores of the survey.

Emotional and mental composite scores were typically better in DM2 patients, as were independence and body image scores. Disease impact on cognition, strength, heart function, breathing and cataracts were also less severe in DM2.

The DM2 patients who reported worse scores were typically older, weaker, and had higher fatigue levels than the DM2 patients who scored better on certain segments of the surveys. Lower quality of life scores were also associated with lower cognitive achievement, memory impairment and lower educational levels.

A deeper understanding of the correlation of age, strength, and fatigue with quality of life in DM2 is needed to facilitate better patient outcomes. More DM2 studies like this will pave the way for higher quality care.


Quality of life in patients with myotonic dystrophy type 2.
Rakocevic Stojanovic V, Peric S, Paunic T, Pesovic J, Vujnic M, Peric M, Nikolic A, Lavrnic D, Savic Pavicevic D.
J Neurol Sci. 2016 Jun 15. 

Multi-Disciplinary Approach Needed for Congenital and Childhood DM Care

Published on Thu, 02/11/2016

Poor communication, fatigue and gastrointestinal problems worry parents most.

Dr. Nicholas Johnson at the University of Utah and colleagues released the results of an MDF-funded multinational study on the impact of congenital myotonic dystrophy (CDM). The study relied upon a survey filled out by 150 American, Canadian and Swedish parents to better understand both the frequency and the impact of symptoms in children with different repeat lengths and different types of CDM. The survey inquired about 325 symptoms of importance and 20 “symptomatic themes.” Children in the study were divided into three groups: congenital DM (CDM), with symptom onset at birth; childhood onset DM (ChDM), with symptoms starting between ages one and ten; and juvenile onset DM (JDM), with symptoms starting after age 10 but before age 18.

Frequency of Symptoms

Parents reported that communication issues (81%), problems with hands or fingers (79.6%) and fatigue (78.6%) were the most common symptomatic themes across all children in the study, while the most common individual symptoms were hand weakness, difficulty opening jars or bottles and learning difficulties. The investigators also examined the influence of repeat length and age on both symptom themes and individual symptoms. Many symptom themes were found to be more common as children became older, such as hand or finger problems, emotional issues, fatigue, pain, inability to do activities, myotonia, gastrointestinal issues and social issues. Children with higher repeat counts showed increased frequency of leg and trunk weakness and problems with bowel control, although myotonia was less frequent in children with higher repeat counts. Interestingly, emotional issues, changes in body image, social issues and impaired sleep were more common when the mutation was inherited from the father.

Impact of Symptoms

The authors looked at the impact of symptoms on children in two ways: first they analyzed the impact of symptoms for the individual, then they analyzed the impact of symptoms for all children with congenital or childhood myotonic dystrophy—the “population impact”— by multiplying the individual impact by the frequency of the symptom. The symptom themes that parents reported had the greatest impact on their individual children’s lives were gastrointestinal issues, problems with urinary or bowel control and decreased performance in social situations. The authors make the point that these symptom themes are different from those identified by adults with DM, namely fatigue and mobility and activity limitations (DM2 patients identified fatigue and other disease symptoms as having the greatest impact on daily living in an article published by MDF in Decmber 2015). Parents of children with greater repeat lengths reported a higher life impact for leg weakness and parents of children who inherited the mutation from their fathers reported a higher life impact for pain. The symptom themes with the greatest population impact were found to be communication issues, fatigue and gastrointestinal issues. The specific symptoms with the greatest population impact were learning difficulties, reliance on family members, and difficulty with math.

Additional Factors

From a social standpoint, many children required special assistance in school, such as speech therapy (55.3%), occupational therapy (40.7%), physical therapy (35.3%), smaller class size (42.7%), test modifications (42%), and augmentative speech methods (19.2%). The survey also showed that children with DM1 who are now adults have difficulty in getting jobs. Parents reported that 15.8% of children had anesthesia complications (56.8% reported no problems and 27.4% had never had anesthesia), and 24.1% had cardiac arrhythmias. Finally, the rate of intellectual disability in children in the study was 28.3% - 45.8% compared to 0.71% in the general population. In particular, children in the study had higher rates of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder.

Take Home Messages

The authors conclude by noting that the high rate of communication problems should be addressed with early referrals for speech therapy and that early cardiac monitoring should be performed. Also, the rate of anesthesia complications reinforces the need for special attention in this group. Overall, the authors emphasize that the high frequency of social and cognitive issues associated with the disease make the need for a multi-disciplinary approach to care much more important.

The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study

Published on Thu, 02/11/2016

Dr. Nicholas Johnson and a research team from the Universities of Utah and Rochester partnered on a study commissioned by MDF to study how women with myotonic dystrophy (DM) are impacted by pregnancy. Data for the study were drawn from the Myotonic Dystrophy Family Registry and the National Registry for DM and FSHD. Previous studies have shown that women with DM may have pregnancy complications in excess of what is normally seen in women without DM. For example, pregnant women with DM1 experience more spontaneous abortions, polyhydramnios (excess amniotic fluid), ectopic pregnancies (fertilized egg implants outside the uterus), placenta previa (placenta covers the cervix) and early labor. Other studies focusing on DM2 showed that 21% of women with DM2 had their first symptom during pregnancy, and women with DM2 experienced more urinary tract infections and preterm labor.

This new study recruited 152 women from the two registries and collected data on their 375 pregnancies. Women with DM1 and DM2 had miscarriage rates of 32% and 37%, respectively, which is higher than the national average of 17%. All women with DM combined had a 10% rate of preeclampsia (high blood pressure and protein in urine) and a 14% rate of peripartum hemorrhage (bleeding before, during or after delivery), both of which are well above the national average of 3%. Many common symptoms of DM progressed during pregnancy, including mobility limitations, activity limitations, pain, emotional issues and myotonia. After delivery many of these symptoms reportedly did not return to the level experienced before pregnancy.

The authors summarize their findings by suggesting that “this research may be utilized by DM patients and family members seeking to better understand the risks and outcomes associated with pregnancy and DM.”


The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study.
Johnson NE, Hung, M, Nasser, E, Hagerman, KA, Chen, W, Ciafaloni, E, and Heatwole, CR.
Journal of Neuromuscular Diseases. Oct 7, 2015.

Common Symptoms of DM2 and Their Impact on Daily Living

Published on Wed, 12/02/2015

While symptom themes such as inability to do activities, mobility limitations and weakness were the most common, fatigue was the symptom that had the greatest impact on patients' lives. This research will help focus developing treatment strategies on the most important issues reported by people with DM2.

These findings are similar to those from a previous study from the same authors that examined symptoms in DM1, where fatigue was also ranked as the most burdensome symptom but not the most common.

More on the study:

In this study, researchers interviewed and sent surveys to people across the USA with DM2, asking respondents to report what symptoms they were experiencing, and what impact those symptoms had on their daily living.

Symptoms were grouped into themes, and researchers found that the most commonly reported symptom themes were:

  • Inability to do activities (94%)
  • Limitations with mobility or walking (89%)
  • Hip, thigh, or knee weakness (89%)
  • Fatigue (89%)
  • Myotonia (83%)
  • Pain (80%)

When the themes were broken down into individual symptoms, the most commonly experienced symptoms included difficulties getting up from the floor, squatting, walking hills, rising from a seated position, and other issues stemming from leg weakness.  These symptoms were experienced by at least 97% of the respondents.

Aside from assessing symptoms, this study also gathered information on employment, age, duration of symptoms, and gender. This allowed the researchers to break down their DM2 respondents into groups to determine whether there were any subsets of the population that had a different experience with DM2 than others.

They found that the significant differences between subsets of the population came when patients were grouped by employment status. Unemployed respondents more commonly reported mobility or walking issues, problems with shoulders or arms, emotional issues, decreased satisfaction in social situations, and many other symptomatic themes.

The researchers believe that “employment status is highly dependent on a patient’s overall disease burden,” and also found that employed respondents had better satisfaction in social situations. While this study was not designed to determine cause and effect, the authors hypothesize that many symptoms of DM2 may make obtaining employment difficult or impossible. They further hypothesize that unemployment may also potentially lead to increased disease burden in DM2.

To read an abstract of this article, click here

Benefit/Risk Study Results: Focus on Muscle Weakness

Published on Mon, 11/16/2015

As part of our investment in the development of effective treatments for myotonic dystrophy, we are trying to better understand how people with DM weigh the benefits of new treatments against the risks.  To do this, we worked with a company called Silicon Valley Research Group to develop a survey that presented a series of hypothetical new treatments and asked that people choose the side-effects that concerned them the most and the least for.  This type of analysis is called “Max-Diff Analysis” or sometimes “Best-Worst Scaling” and has been used in other benefit-risk studies and by the Food and Drug Administration (FDA).  The method generates robust statistics to determine, on average, what risks people are or are not willing to accept for a given benefit.  The FDA has indicated that it is very interested in this type of information.  

The survey showed that reversing, stopping or slowing the progression of muscle weakness were the most preferred benefits, in that order.  The side effects people were most willing to tolerate overall for any benefit were loss of appetite and a small increase in tiredness. 

People in the study also completed the short version of the Myotonic Dystrophy Health Index (MDHI) to rate the severity of their myotonic dystrophy.  Scores were grouped into mild, moderate and severe categories.  For the majority of benefits, those with all levels of severity were similar in their willingness to tolerate side effects except that those with more severe myotonic dystrophy were less willing to risk liver failure for any type of therapeutic benefit.  Also, those with the highest severity rating for their myotonic dystrophy were more willing to tolerate an increase in tiredness if the drug could stop or reduce myotonia.  The data reported here are based on the survey responses from those with DM1.  The responses from those with DM2 are being analyzed now.

These results were presented on September 17th at the MDF-sponsored regulatory workshop on therapeutic development for myotonic dystrophy, which was attended by FDA staff.  Next steps will likely include an in-depth follow-on study that looks at the benefit-risk preferences of caregivers and younger people with myotonic dystrophy.  We are also investigating ways to collect “qualitative” data, such as stories and open-ended comments, on the benefit-risk preferences of those with myotonic dystrophy.  Ultimately this information will be made available to FDA reviewers through various mechanisms with the goal of incorporating the view of those with myotonic dystrophy and their families into the decision-making process about new therapies. 

Caregiving Today: Stresses, Satisfactions, and a Need for Better Solutions

Published on Wed, 11/04/2015

Providing care to the very young, the very old, and to children and adults with illnesses or disabilities has always been part of family life and is highly likely to remain so, in the United States and elsewhere. But the last 50 years have been a time of marked changes in the U.S. and other developed countries in the circumstances families face when they need to provide care to dependent relatives.

Family Caregiving Has Changed

Women, even those with young children, are far more likely to be in the paid workforce than ever before; families often do not live near relatives who in the past might have provided support; elderly relatives are surviving longer than in earlier decades but more often have multiple, age-related care requirements; and children who in the past did not survive infancy are living through childhood and even adulthood, sometimes with serious deficits and complex needs.

Outside Resources Are Scarce

Government and other support for care in the home vary greatly among countries, with the U.S. providing relatively little in terms of a safety net compared with many western European nations. (In the U.S., the Family and Medical Leave Act requires that some businesses and other employers allow 12 weeks of unpaid leave with job protection for employees who want to care for an ill family member or a new baby.)

Caregivers Experience an Array of Challenges

In June 2015, the National Alliance for Caregiving and the American Association of Retired Citizens (AARP) released a report – Caregiving in the U.S. – that showcases some of the challenges facing today’s family caregivers.

The report is based on interviews conducted in 2014 with 1,248 caregivers who were at least 18 years old and were providing unpaid care to at least one adult or child in need of special attention. (Parents of children requiring “ordinary” care – without special needs – were not part of this survey.) Among the findings were the ollowing.

One in eight Americans is a caregiver, usually for a relative:

  • There are an estimated 43.5 million adults in the U.S. (or one in every eight Americans) providing care to at least one adult or child with special needs, on average providing 24.4 hours a week of care.
  • Most caregivers – 60 percent – are female; 40 percent are male.
  • The average caregiver age is 49.
  • A large majority of caregivers – 85 percent – are providing care for a relative.

Most caregivers also have a full-time job:

  • More than half (56 percent) of caregivers in this survey were employed in a full-time job in addition to their caregiving responsibilities; on average, they worked 34.7 hours a week.
  • More than half (60 percent) of those surveyed said they had to make workplace accommodations, such as reducing their hours or taking a leave of absence, because of their caregiving role.

A third report no help:

  • About a third (32 percent) of caregivers report they are assisted by paid help, such as an aide.
  • One in three (33 percent) report they have no help at all.
  • About a quarter (24 percent) of caregivers reported difficulty obtaining affordable services that would help with their caregiving in their community.
  • Of caregivers providing at least 21 hours of care per week, 44 percent said respite care (with someone else taking over the caregiving for a defined period of time) would be helpful.

40 percent say burden of care is high:

  • Most caregivers – 59 percent – help loved ones with at least one activity of daily living (ADL), such as helping them get in and out of beds and chairs and assisting them with bathing or showering.
  • One in four caregivers (25 percent) reported assisting with ADLs was difficult.
  • The most difficult ADLs with which caregivers assist involve personal care, such as dealing with diapers or incontinence (40 percent said this was difficult); helping the care recipient to and from the toilet (33 percent said this was difficult); and helping with bathing and showering (31 percent said this was difficult).
  • Other caregiver responsibilities reported by those interviewed included transportation, shopping, housework, managing household finances, interacting with healthcare providers and other professionals on the care recipient’s behalf, and performing medical or nursing tasks, such as giving injections or tube feedings and providing catheter or colostomy care.
  • About a quarter (22 percent) of caregivers said their own health had worsened as a result of their caregiving responsibilities.
  • A high level of physical strain related to caregiving was reported by 19 percent of caregivers; 38 percent considered caregiving to be emotionally stressful.
  • Financial strain resulting from caregiving was reported by 18 percent of caregivers.
  • The burden of care perceived by caregivers was reported as “high” by 40 percent of survey responders, “moderate” by 18 percent, and “low” by 41 percent.

Caregiving in a DM-Affected Family Often Means Meeting Diverse Needs

MDF dystrophy (DM), particularly the type 1 form, poses specific caregiving challenges to families, as the disease affects the muscles, brain and many other organs and systems in the body.

There is often more than one person affected in a DM family – and they aren’t all affected in the same way. It isn’t at all unusual to find a middle-aged, unaffected adult caring for a spouse with adult-onset DM1, a son or daughter with juvenile-onset DM1, and a grandchild with congenital DM1.

A DM1-affected spouse may be experiencing weakness and fatigue, while the juvenile-onset-affected adult may be finding school or work unsustainable because of cognitive impairment and daytime sleepiness; and the baby in the family, with congenital DM, may require specialized care, such as respiratory treatments and tube feedings, as well as many hours a week of therapies to aid his or her cognitive and physical development.

Voices of Caregivers in DM Families

In the U.S., caregivers in DM families who have been profiled on the MDF website and who facilitate online support groups for caregivers report a combination of challenges and satisfactions with their roles, which often involve caring for spouses and children with the disease.

Diane Bade, a middle-aged caregiver of three children with DM, says her children “live vicariously through others” and that their “social networks and outlets are limited by their circumstances.” To help offset those barriers, she started an annual sleepover camp for young adults with DM at her home.

Cecilia Stearns describes having an adult daughter whose social problems, daytime sleepiness and learning disabilities, which started in her teens, weren’t recognized as DM1 until Danielle herself experienced serious complications during childbirth and gave birth to twin boys with congenital DM. “You just do what you have to do,” Cecilia says. “We’re all here and doing as well as we can. The typical retirement does not exist for us, but we’ve got our daughter and two 15-year-olds who need us. I can’t imagine my life without them.”

Regina Thompson describes caring for her adult, DM1-affected brothers: “It was perfectly normal that we’d stick together and take care of each other,” she says. “I always wanted to take care of my brothers as best I could. What I’ve learned at the MDF Annual Conferences and through other resources helps me take care of them. We’ve been dealt things we have to live with, but your perspective really can make all the difference.”

Kevin Dressler, featured in "Reaping the Rewards of an Unexpected Role", whose wife, stepdaughter and step-grandchild all have DM1, is going to be participating in an online support group for male, unaffected caregivers in DM families, the outgrowth of a community-led panel he helped lead at the 2015 MDF Annual Conference. He advises men in his situation to be patient and accept that you can’t run away but that you are not alone and can reach out to friends and support groups. Kevin’s grandchild, now 3 years old, is “blossoming” despite having congenital DM, and getting a hug from the little boy at the end of a work day offsets the difficulty of caregiving.

Even Overseas, Things Aren’t Perfect

Even in the Netherlands, where the government provides more social services for caregivers than it does in the U.S., a study published in 2014 found parents of children with a chronic illness worked fewer hours per week (if voluntary, this could be viewed as a benefit) and spent less time doing leisure activities than parents of healthy children. The researchers surveyed 576 parents of ill children and 441 parents of healthy children.

In another Dutch study, published in 2011, researchers looked at five middle-aged couples in which one person was affected by adult-onset DM1. They conducted in-depth interviews with the couples, separately and together, in two cities and three villages in the Netherlands in 2009.

They found that the partners with DM1 experienced physical, cognitive and psychosocial barriers to performing roles and participating in activities in life, leading to postponing, avoiding, adapting or giving up activities. The unaffected partners reported experiencing increasing burdens, feeling they had to do everything, including prompting their affected partners to act. In addition, couples described a lack of understanding of the DM-affected person’s condition by relatives and friends, the healthcare system and society in general. They described the healthcare system in the Netherlands as fragmented and uncoordinated, with each set of professionals looking at one aspect of DM1 at a time and no one putting the whole picture together or understanding the impact of the disease on daily life.

Resources for Caregivers

Supporting caregivers and families is one of the most important things we do. Visit the links below to explore some of the caregiver resources available on the MDF website. If you don’t find what you need, contact MDF, we’re here to help.

Join us, November 23rd, for a Meditation for Caregivers - a virtual, hour-long session with Dr. Genie Palmer, a meditation teacher and former associate professor and researcher at Sofia University. 

MDF Caregivers Support Group (notices about upcoming discussions, held online every month)

MDF Caregivers Group (a Facebook-based group)

MDF Unaffected Male Caregivers Group (a Facebook-based group)

2014 MDF Annual Conference Community-Led Track: Caregiver Focus (a 45-minute presentation discussing challenges facing caregivers)

2014 MDF Annual Conference: Advocating in the Clinic – Educating & Supporting Your Doctors (a 54-minute presentation on becoming your own healthcare advocate and educating your doctors about your needs)

Webinar: On Being a Fearless Caregiver (a 43-minute presentation on issues related to caregiver advocacy; partnering with the healthcare team and other family members; self-care; and managing the role of a caregiver)

Healthy Heart Information for American Heart Month

Published on Thu, 02/19/2015

February is American Heart Month, and MDF has partnered with Drs. Katharine Hagerman and Marianne Goodwin to highlight important research on cardiac issues in myotonic dystrophy for our community.

Researchers in the lab of William Groh, MD, at Indiana University have been studying heart involvement in myotonic dystrophy type 1 (DM1), including heart conduction defects, cardiac rhythm disturbances, and structural heart abnormalities for some time. The group performed cardiac imaging and analysis of the electrical impulses of the heart by electrocardiography (ECG or EKG) on individuals with DM1, and found that certain structural changes in the heart are increased in individuals with cardiac electrical abnormalities. In addition, the study identified predictors of heart failure and dysfunction, including increased age and changes in electrical conduction of the heart observed by ECG, specifically measurements known as PR interval and QRS duration. These indicators may be used by doctors to help predict which DM patients would benefit most from implantable cardiac rhythm devices such as pacemakers. Additionally, the group found that some individuals with DM1 benefit more from devices known as implantable cardioverter-defibrillators (ICDs) than standard pacemakers to help correct heart rhythm disturbances.

The heart involvement in myotonic dystrophy type 2 (DM2) is similar to that seen in DM1, however controversy exists over the frequency and severity of heart irregularities in the DM2 population. To address this, a research team led by Giovanni Meola, MD, in the Neuromuscular Clinic at IRCCS Policlinico San Donato in Italy compared cardiac abnormalities in DM1 and DM2. Using tests such as ECG and echocardiography, the study found that heart involvement is less common and generally milder in DM2 than DM1. However, individuals with DM1 and DM2 are both at increased risk of heart abnormalities such as cardiac arrhythmias and conduction disturbances. These heart irregularities can be progressive with age, and may be present in individuals even when no symptoms are experienced. Therefore, people living with DM should receive annual cardiac evaluations, including ECG, by primary care physicians or cardiologists to promote heart health.

For more information on heart health in DM, please see our Body Systems Tool.

To learn more about heart symptoms, exams and management, watch MDF's webinar "Cardiac Issues Related to DM," by Dr. William Groh, a leader in the field.

Papers on DM1 heart issues:

Papers on DM2 heart issues: