Sisters Mary Dowdle (37) and Caroline Easterling (39)  live in neighboring states: Maryland and Virginia, respectively. Both women live with myotonic dystrophy type 1, as did their father, grandfather and great grandfather. Their older sister, Cassie Carroll, does not have DM, nor did any of their father’s siblings. Mary and Caroline are very active with Myotonic and play a vital role in Myotonic’s community. We spoke with them recently about their journeys and experiences with DM.

Myotonic: Can you describe your experience with DM? 

Caroline: “In 1999, my dad was having serious health issues, such as muscle weakness, cataracts, GI problems, etc. His father and grandfather had been diagnosed with Parkinson’s and that’s how the doctors thought they’d died. But then my father found out he had DM. 

“As a teenager, I had myotonia in my hands. My doctor diagnosed me with sclerosis and told me I’d be fine. In 2000, I was diagnosed with DM. I had been searching for information, but it was a challenge to find someone who knew anything about DM. After my father was diagnosed, the whole family entered into a clinical study, genetics counseling and a longitudinal study.” 

Myotonic: How has the disease progressed since then?

Caroline: “Since the diagnosis the myotonia has gotten worse. I have a lot of weakness in my ankles, hands, and muscles. I used to be very active. I’ve been trying to work with a trainer to maintain muscle strength.

I know that parents can pass on the congenital form of DM so when my husband and I decided to have children, we opted for IVF and had only the healthy eggs implanted. After three cycles of IVF, we ended up with twins who are healthy. All my doctors said I shouldn’t carry twins, but I wanted to. They were both born by Cesarean section at 32 weeks, and they don’t have the genetic mutation. I was lucky because the National Institutes of Health (NIH) put me in touch with the right doctors who could do IVF and carry out the right tests.”

Myotonic: Can you tell us about your journey, Mary?

Mary: “I’m the youngest of three girls. I didn’t think to get tested when my sisters were diagnosed. It wasn’t until 2011 that I got tested, and it was only because of a clinical study in Rochester that my family participated in, for which a blood test was required. My priorities were different in 2000. I was in high school, then college, and I was living my life. I was able to function normally and didn’t really want to know what was wrong, so I didn’t get tested until a couple of years ago. There was definitely some denial there.”

Myotonic: Were you experiencing symptoms?

Mary: “I started experiencing symptoms around age 18. GI pain was and is the biggest issue. I experience it every day, and it’s constant. It’s been debilitating. Before I was tested and diagnosed, the doctors thought my appendix was the problem, so it was taken out. I’ve also had two colonoscopies. After dozens of tests, they still didn’t know what was wrong. The hardest thing about this is that, after 19 years, none of our family doctors are knowledgeable about DM. Treatment options are very limited. They can make accommodations, but there is no cure.” 

Myotonic: How has each of your experiences with DM affected the other?

Caroline: Mary and I have always been very close. I was very involved with my dad’s health progression, so I tried to help Mary by bringing her into the process of discovery and research. I visit the NIH every year and get tested. NIH and Myotonic are invaluable resources for me, both medically speaking and in terms of support and information. And I try to pass that on to Mary.”

Mary:  Caroline has always been very supportive and answered a lot of my questions. She has helped me with the kind of questions you don’t want to ask your doctor. It’s great to have someone to talk to who knows what you’re going through. You can’t really talk to someone who doesn’t understand or know what you’re experiencing in the same way you can with someone who does. My older sister and I are close but I can’t talk to her about the issues I’m having. Caroline and I don’t have the same symptoms right now but we may have similar symptoms in the future. So in terms of treatment options, we can offer each other information and support.”

When Marty Benner’s granddaughter, Sophia, was born in November 2006, the doctors and nurses immediately knew something wasn’t right. She was put on life support while they monitored and tested her, yet more than a month later, they still couldn’t figure out what was wrong. On Christmas Eve day, Marty and her family were advised to take Sophia off the respirator and let her die.

“We’re not doing that,” Marty told her daughter, son in-law and husband. Instead, Sophia was flown from Jacksonville to St. Petersburg’s All Children’s Hospital. After meeting with a geneticist and undergoing testing, Marty’s husband Randy, her daughter Brannon, and her granddaughter were all diagnosed with myotonic dystrophy. Randy and Brannon were diagnosed with DM1 and Sophia with congenital DM1. 

As a nurse, Marty had recently worked in the field of pediatric neurology and has always been the type of person who is willing to search for answers if they aren’t readily available. Once the diagnosis was made, Marty began educating herself, primarily through online research. That’s when she came across the website for Myotonic, which helped her immensely. In fact, Marty eventually served on Myotonic’s education committee and helped gather much of the information Myotonic currently houses.

Marty knew her family could easily fall apart following the diagnosis. But giving up was not an option. “My husband dealt with it pretty well. We had a lot of family meetings and discussed our plan of action,” Marty explains. “Immediately after the diagnosis, I called a family meeting and said ‘we have a lot of bridges to cross and a lot of decisions to make. We can do it separately or we can do it together.’ There was even a point when I told my son-in-law, Mark, who was active-duty military, that things were going to get really bad. I told him, ‘If you don’t want to stay, I understand.’ But he did.” 

Sophia came home from the hospital in March 2007 and Brannon moved in with her parents when Mark was deployed. “I did a lot of work with Sophia. I was essentially her night nurse,” Marty says. Sophia will be eight years old in November and is doing well. She walks independently and talks, though her speech is a bit garbled, and she’s going to a school that has a program for special-needs children. 

Brannon has developed cardiac problems and has an ICD (fibrillator and pacemaker) in her heart. She walks with a cane, but the family is working on therapy for her. Randy also walks with a cane and has had cataracts and some heart issues. Despite all that, Marty feels fortunate because she knows the situation could be much worse.

“I don’t want people to ever give up. I’ve spent so much time educating people: teachers, nurses, even doctors. The most important things are to get educated and be your own advocate. If you don’t, no one else will and you could end up getting lost in the shuffle.”

“Our family’s story begins when my undiagnosed daughter, Danielle, almost died giving birth and one of her twins had an initial APGAR score of zero. That was a pretty dismal beginning.” This is how Cecilia Stearns started the conversation when we asked her to share her family’s story with us. Though their journey has been bumpy, and at times scary, Cecilia, Danielle and the twins, Matthew and Jonathan, are finding their way by seeking out the support and services they need and learning to take life one day at a time.

“My advice to people with a child who has congenital myotonic dystrophy would be ‘do not assume that your child’s difficult beginning is a reliable indicator of what lies ahead,” Cecilia says. “The twins will be teenagers this year and my daughter is still here to tuck them in at night. There’s no upside to thinking the worst. Being able to adjust is the best thing anyone can do. Educate yourself, find the best doctors and support. And don't let the disease become all there is in your life.”

Danielle has DM type 1 and Matthew and Jonathan were born with congenital myotonic dystrophy. Cecilia and her husband, who are semi-retired and self-employed in Silicon Valley, have relinquished the typical “golden years” to care for their daughter and grandsons, which they have been doing for the past 12 years.

While in the hospital with her daughter for the birth of the twins, Cecilia was asked to leave the O.R. where Danielle was undergoing a C-section. “I was told they were trying to save my daughter’s life and that she was hemorrhaging, but I had no idea what was going on. It wasn’t until later that I found out she had a pregnancy complication called placenta accreta. When the twins were born, Matthew was not breathing and was immediately intubated and given chest compressions. It was several minutes before his doctors were able to bring him back. They saved his life.” says Cecilia.

Adjusting and Finding Support

The early years were challenging. The family had no idea that Danielle was living with DM. Her symptoms appeared during her early teen years and only became life threatening during labor. “In retrospect, it all makes sense,” Cecilia says. “Danielle’s adolescent symptoms were basically central nervous system problems rather than physical ones. She had some social problems, daytime sleepiness, learning problems, and personality issues, all of which we now know are associated with juvenile onset DM. Nothing seemed severe enough that we felt compelled to pursue a medical diagnosis,” Cecilia explains.

Danielle saw family counselors, tutors and all types of specialists, but the family considered her issues a matter of personality, not physical health.

“Many people have no idea that DM is genetic. Oftentimes symptoms don’t appear until adolescence, as they did with Danielle, or later in adulthood,” Cecilia continues. Danielle had inherited DM from her father, Cecilia’s first husband, who was asymptomatic. “This is why DM is such a mysterious disease. There is a potpourri of symptoms and varying ages of onset -- and it doesn’t affect anyone exactly the same way.”

After Danielle left the hospital, everyone was in survival mode. “We were in shock,” says Cecilia. “After 50 days in the NICU, both twins were home and their nursery was filled with oxygen tanks and sensors, kangaroo pumps, and heart monitors. The only thing on our minds at that time was making sure the children survived and remembering how to use all the equipment.”

Eventually, the family settled into a routine. Armed with a diagnosis and the determination to get educated, Cecilia transitioned from survival mode to proactive mode. She wanted to learn as much as she could and find some form of support: a community.

Around 2006 Cecilia found Lisa Harvey's Yahoo support group for parents of children with congenital and juvenile onset DM. “She was my life support back then and we remain close friends,” Cecilia remembers. Cecilia still remains active in the Myotonic community by offering support, tracking research and attending support group meetings.

Moving Forward

The boys are still very needy. At age 12, they’re still in diapers and Jonathan cannot speak words, though he does find ways to communicate. Matthew is learning but he’ll never be a strong speaker, according to Cecilia. “I still find it amazing how differently congenital myotonic dystrophy has affected our fraternal twins. Matthew is very mellow and he is the hugger of the family. Jonathan is very autistic-like with sensory and behavior issues. After a two-year struggle, we managed to get him placed in an autism program where he is doing well. Sometimes it pays to be the squeaky wheel.”

Danielle’s symptoms have progressed slowly. She has extreme gastrointestinal issues, daytime sleepiness, and has difficulty going up stairs. Her hand grip has weakened and she has occasional muscle cramping but she’s still mobile on her own. Despite all that, Cecilia feels lucky. She feels they have the best care possible with their neurologist, Dr. John Day, Stanford Professor of Neurology, Pediatrics, and Pathology, who heads up the integrated Lucile Packard Children’s Hospital, Stanford Hospital, and Stanford University Neuromuscular Program. “It can't get any better than that,” she says.

“People ask me, ‘How do you do it?’ but I don’t feel special,” Cecilia concludes. “You just do what you have to do. 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 12-year-olds who need us. We get so much love in return and I can’t imagine my life without them. I keep in my office a picture of Matthew when he was in the NICU. There’s a jumble of cords covering his tiny body. Above it, I have his latest school picture. To me, that is the ultimate picture of hope.”

Saurabh Rai, a San Francisco-based research analyst, has always been active and physically fit. So when he began experiencing mild myotonia several years ago, he didn’t take it too seriously. By 2009, the myotonia had gotten worse, despite the fact that he was exercising a lot.

After his symptoms continued to worsen, Saurabh paid a visit to his doctor, who conducted a host of tests. Saurabh was told that he was perfectly healthy and just needed to stretch more after his workouts. However, Saurabh’s symptoms continued and, in fact, became more gripping.  He was referred to a neurologist who conducted an EMG test—which reads electrical currents that occur in the muscles—and was diagnosed with DM1.

Even though his muscles hurt and he’s often fatigued, Saurabh remains active. But now, instead of working out and lifting weights at the gym, he practices yoga.

“Yoga provides temporary relief from the myotonia because I have to stretch a lot,” Saurabh says.  “DM tightens the muscles and yoga loosens them up. The different yoga poses help different parts of the body and also alleviate some other issues that arise, such as the GI problems.” 

The most beneficial thing for Saurabh, however, is that yoga reduces stress. “I could go to the gym and lift weights, but my head would be filled with things that cause me stress. With yoga, I have to be very focused on what I’m doing. It cuts me off from everything else. It’s a meditative experience.”

Saurabh is determined not to let DM interfere with his life. “When I received the diagnosis, I thought it was the end of the world,” he said. “I was depressed and felt hopeless. But I’d heard about Myotonic and joined their online forum. I gradually realized that this diagnosis is not the end of the world and that I needed to make some life adjustments and stay positive,” he adds. 

Being involved with the Myotonic online forum has continued to be a support for Saurabh. While he found it to be an invaluable resource at the the time of his diagnosis, he now stays connected to the larger Myotonic community, encouraging others to not give up, try yoga and stay positive by making small adjustments to their lives.

“There are a lot of ways you can improve your life,” Saurabh says. “Everyone can do something to be healthier, whether it’s changing their diet, practicing yoga and meditation, or simply reducing their stress. I know it works for me.”

Please visit our Facebook page if you'd like to join or participate in our online discussions.

Shannon Lord, MDF's founding chairman, passed away on June 4, 2013. Shannon had a mild form of DM1 and her two grown sons have childhood-onset DM. She was a compelling speaker, advocate, and fundraiser for the myotonic dystrophy cause, and was responsible for the participation of American family members at the International Myotonic Dystrophy Consortium in 2005 from which MDF evolved. Below is a perspective on coming to terms with a DM diagnosis that Shannon shared with MDF several years ago. It encapsulates the honesty, drive and passion Shannon brought to her advocacy work in myotonic dystrophy. 

Empowerment: Shannon Lord's Perspective 20 Years after Diagnosis

After learning of your diagnosis of myotonic dystrophy, you probably can't quite believe it's true. A sense of denial might overcome you for a while, and slowly, ever slowly, the reality starts sinking in. You may become angry and blame others. Then you try to bargain: if only...then maybe. Finally, sadness and depression consume you and you feel frustrated and hopeless. If you allow this process to progress, eventually it is possible to arrive at a place of acceptance. These are the steps of grieving often described in the field of psychology.

It is important to grieve, to go through this natural process - through being the only preposition with integrity. If you try to skirt by, around, over or under it, you will continue to feel sadness and grief as much as you try to quell your feelings. Support groups or counseling can help you navigate through this process. A very important step is learning to ask for help.

Over time you might come to realize that you are not the disease. You, the person with DM or a family member of someone with the disorder, are so much more than that. It is important to learn to accept this inherited disease - over which you had no control - and consciously make choices to do things that make you feel good, that give you joy: Garden. Paint. Play your favorite CD. Go to a good movie. Run. Ride your bike. Eat nutritious meals. Feed the birds. Maintain a sense of humor if at all possible.

It is also important to tell your story to those who will listen, whether family and friends, therapist or support group. Over time, if you tell your story enough times to those who listen, you will begin to realize that the sadness and loss start to diminish. At some point you might even come to realize that you can assume some control over your attitude about what has befallen you.

It is important to assume responsibility for taking the best care of yourself.

• Learn as much as you can about DM and teach your family.
• Write down questions for your doctors and take them with you to your appointments.
• Share the "Information for Medical Professionals" section of the MDF Toolkit with your providers-- many of them will not know as much as you.
• Assume responsibility for guiding the treatment process for yourself or family member. Your doctor might never have treated a patient with this disorder.
• Acknowledge your talents and run with them!

Some DM families, after coming to grips with their diagnosis and needing to do something, have derived tremendous pleasure -and success- in working to raise money to help researchers find a treatment or cure for their family disease. At a time when government funding has been cut back tremendously, these families are thinking of creative ways to continue to advance research with contributions from the private sector. While knowing they are unable to cure themselves or their loved ones, they can control these fundraising efforts to help expedite the next best thing: scientific research by the experts. And the organizers of these events feel great in the process! Some of us find that our greatest rewards often come through giving -- our time, our talents, and our resources.

One individual decided to ride his bicycle to and from work every day - 32 miles round trip - for up to 5,000 miles in his 40th year, and sought pledges from family and friends of $20 per mile, raising over $100,000 in the process. A stunning success! Another person organized a bake sale at his office and asked colleagues to contribute baked goods. With the sale of cookies and cakes, and a few extra donations thrown in, he raised over $700. These people are putting their creativity to work, achieving great success, and reaping totally unexpected personal rewards from the satisfaction and support they receive. In the process they are helping move research closer to a cure.

Even after you have grown accustomed to the idea of having DM and are feeling stronger, you will find yourself riding the wave of sadness from time to time. It is natural to feel that way, so don't try to deny those feelings; allow them, and know that soon the wave will reach shore again and you'll be back on solid ground. As time marches on, the period between the waves will grow farther and farther apart.

Remember: Asking for help is a sign of strength, not weakness. You do not have to travel this path alone.

To read a letter written in memory of Shannon Lord from the MDF Chairman, Jeremy Kelly and MDF Vice Chair, John Brekka, click here

Renee Bux, now 17, was adopted at the age of three months.  She had been hospitalized right after birth and diagnosed with “failure to thrive,” but then began making steady progress.  Her mother, Joy, recalls that, although they knew their baby had a slow start, “We had fallen in love with Renee, and knew immediately that she was part of our family."

Joy noticed delays in Renee’s development that she now knows were typical of myotonic dystrophy. "After bringing Renee home, she was monitored by her pediatrician who eventually recommended she be seen by a developmental specialist to begin early intervention," Joy says. "Although Renee always hit her developmental milestones, she was consistently on the outside of the parameters."

Other than a diagnosis of "global developmental delay," there was no explanation for the challenges Renee experienced. At age 3, she began receiving early childhood services through her school district. Her pediatrician also referred them to a geneticist for further testing. After meeting Renee and hearing her history, the geneticist ordered blood tests and Renee finally received a diagnosis of DM.

"It was very devastating to hear the diagnosis,” says Joy. "But Renee was in the care of some amazing people in her early childhood program. I called her teacher and she told me, 'At least now you know. You can get the right care.' Hearing that from someone who was so crucial to Renee’s development made such a difference. It reset my thinking."

Joy went on to explain that every parent of a child with special needs goes through grief, denial, and acceptance, but the ultimate focus is always on helping your child reach his or her potential — even if you don’t always know what that is.

"You want your child to accept who they are,” Joy says, “Renee is a sweet and loving girl who loves to laugh and learn.  She has a great deal of faith and understands that we are all different in some way. She accepts that she has DM, knows she can’t do everything as easily as others can, and is open to learning ways to compensate. The other day at breakfast, she said, So mom, what disability do you have? I thought that was so cool."

Over the years, Renee has received a lot of support and care from doctors, therapists, educators, family, and friends. In her early years, the focus was on learning about DM, providing therapy, discovering and utilizing the right services, and offering emotional support. Social situations, in particular were difficult, as most young children don’t understand Renee’s differences. Her family spent a lot of time facilitating social interactions so Renee and her peers could be comfortable with each other.

While Renee has learned a great deal about social interaction, it’s still difficult for her to form typical teenage friendships due to her cognitive and emotional delays. She recently joined a small social group that meets once a month — without parents — and she looks forward to that independent time. Now that Renee is moving into early adulthood, Joy is focused on helping her navigate the later teen years and prepare for her future.

"I have to focus on her potential and the discovery of her life’s path: education, independent living, employment, and self-determination," says Joy. One way that has taken shape is through the development of a transition plan, which is part of Renee’s special education services.

In addition to helping families plan ahead, this transition plan gives students a chance to begin discovering their likes and dislikes, setting goals, and thinking about where they want to work and live. It encourages them to be part of creating their future. Renee’s career choices change often, but she’s beginning to articulate some areas of interest, such as working as a teacher, in a library, or with technology. Joy acknowledges that some of Renee’s dreams are more realistic than others but she wants to support Renee’s vision by helping her overcome her challenges and capitalize on her strengths. 

"In the end," Joy says, "I want her to have what most parents want for their children — a job they enjoy, social interactions with friends, a comfortable place to live, and family and friends who love her."

I am Kelly Bormann. I live in Overland Park, Kansas and am married to Steven Bormann. We have 3 beautiful children. Reed (4), Adalyn (2) and our little angel Anna who passed away when she was 6 weeks old. Anna is the reason for this 5K walk called Muscles for Myotonic.

Anna had a disease called Myotonic Dystrophy. It is a genetic disease characterized by wasting of the muscles. There are also many other symptoms that go along with this disease including cataracts, endocrine changes, cognitive impairment, gastrointestinal and cardiac issues, and myotonia, which is slow relaxation after voluntary muscle contraction. There are two major forms: Type 1(DM 1) which has a severe congenital form and milder childhood- and adult-onset forms, and Type 2(DM 2) which is currently considered to be only adult-onset. Anna, my father, and I all fall under Type 1. Both my father and I were unaware we had this disease until Anna was born.

When I was 29 weeks pregnant with Reed and Anna, Reed's water broke. I ended up in the hospital. The next day Reed's cord prolapsed and I had to undergo an emergency C-Section. Reed was born first and by the time they had them both out neither one of them was breathing and both ended up on a ventilator. When I woke up, my husband was the one who had to tell me what was going on and that there was something wrong with Anna. Both babies weighed 3 pounds. Reed was off the ventilator in 6 hours. He was the super hero of the NICU. Anna had a tough 6 weeks ahead of her. She was a tough little girl who tried her hardest to hang on despite all of her issues. After a long and heartbreaking battle, we realized she had gone to be with God and for her it was for the best. We tell Reed and Adalyn they are so lucky because they have their own personal angel that is watching over them all the time and we got to meet her before God called her to heaven.

Never in my wildest dreams would I have believed how much our lives were about to change forever. Every mother pictures herself having a normal birth and taking her baby home to live happily ever after. Our story was definitely not a fairy tale. We left the hospital and went home to a house that was ready for two babies and instead we did not have either of them with us. After about 40 days Reed was able to come home. Before Reed left, we were able to take him to meet his little sister for the first time. The most amazing thing happened. He stretched out his arm and he and Anna held hands. We have beautiful pictures of their time together. Eventually after six hard weeks, we left Children’s Mercy Hospital for the last time without our daughter. She was never able to come home.

My father and I continue to fight the battle of living with this disease. However, I truly believe this is a battle he and I, along with many others, will soon beat. The reason for this walk is to raise awareness of this disease, aide in the research of the treatment (which they forsee in the next 5 to 10 years) and eventually find a cure, but most of all to honor my daughter's memory. Our little Angel.

Reed, along with Adalyn, have brought so much joy and happiness to our family. They are our little miracles. Through all of this, with God's healing hands, we have made it through the past several years day by day. We have become a better and stronger family because of it and that is our happily ever after!

We appreciate your participation so we can work towards a brighter future for people with this disease!

I'm Erica Kelly and I live in Mill Valley, California. I'm married to Jeremy, and we have two boys, Jack and Ben, who are 12 and 14.

Both of our sons were born with what we now know are symptoms of myotonic dystrophy. At birth, they were floppy with low muscle tone and clubbed feet, and Jack wasn't breathing at first. We started serial casting and physical therapy immediately, and over the next five years, we had full evaluations done at several genetics clinics, but they all failed to come up with any specific diagnosis. Two boys with low tone and clubbed feet were deemed an unfortunate coincidence, and we were sent on our way. Then we lost our third baby, Peter, when I was 36 weeks pregnant. From the sonograms, we knew he too had clubbed feet, but none of the medical professionals drew any conclusions.

In retrospect, it seems that one of our many doctors or therapists should have diagnosed myotonic dystrophy - but no one did. Around the same time my brother was referred to his first neurologist. He started having mysterious grip issues and seemed to be losing muscle tone. When the doctors diagnosed him with DM, the dominoes started to fall and it all made sense - horrible sense. It was like a genetic time bomb. We soon discovered that my father's two siblings are affected along with many of their children, and of my three siblings only my eldest sister is not affected. Thank goodness! She is our rock.

When I first learned of the diagnosis I felt my life closing in on me. I was depressed and anxiety-ridden; angry that the condition had not been identified by all of our doctors and so worried about what this would do to my family - my lovely little boys and my husband. When I Googled myotonic dystrophy, now 7 years ago, the only information that came up were obituaries. I couldn't find good information and I couldn't find anyone to talk to who had DM or who had even just heard of it. I never thought I would be happy again. Fortunately, I was wrong.

Today, less than a decade later, we now have access to so much information it's hard to know where to start and the scientific community is making amazing discoveries every day. The Myotonic website leads to clear and concise information about research and support; chat rooms; blogs and friends. I am so happy this information is now available for newly diagnosed community members and the medical community.

Learning to live with DM is a harrowing journey, but the landscape is changing fast and we have an amazing opportunity to help each other, get organized as a patient community and play an important role in curing this disease. You never know what is going to happen next. Our sons Jack and Ben, pictured above, are now 14 and 12 - they live for soccer and snowboarding. Who knew? We have so much hope.

Speech Transcript, 2011 Myotonic Annual Conference

My name is Eric Wang, and it's an incredible honor for me to serve as an advocate for myotonic dystrophy, both as a researcher who studies myotonic dystrophy, and as a person who grew up seeing the effects of DM every day. I have watched how it has impacted both the affected and unaffected members of my family.

When I look back on the past 15 years of my life, there was a clear turning point in my relationship with DM, how it affected my family, and how I dealt with this fact. Throughout junior high school and high school, I watched my dad gradually lose fine motor control, lose the ability to get up and down stairs, and go through several close calls with severe falls and heart function.

In college, I remember how every time I came home for holiday breaks, I would notice how my dad looked a bit different each time as a result of his muscle wasting. The disease impacted me and my entire family in a negative way, and in general we felt helpless as to what we could do to slow down the effects of this terrible disease. 

After college, I worked in a lab where I studied cardiovascular biology. During that time I applied to graduate school, and had to choose the area of research where I wanted to do my Ph.D. I consulted other students in the lab about interesting research areas, and there was one particular evening that really served as a eureka moment for me. I was having dinner with another student in the lab and I remember it very vividly. We were in the basement of John Harvard's Pub in Cambridge, Massachusetts. I remember that we both ordered a mushroom swiss burger; it was a good burger, and not because of how it tasted; it was so good because that night a light bulb went off in my head.

It was there that my friend suggested that I study DM, to be a 'champion' of the disease. In a way, the idea was extremely obvious; to use my biology training to study a disease that runs in my family; but for some reason I have never considered it seriously. I think it was partly due to a narrow way of thinking; thinking that I couldn't make a significant difference. This narrow way of thinking is something that I would like us all to transcend in some way.

That night, my journey of empowerment began. I later found David Housman at MIT who with other members of this audience found the gene for DM1 in 1992, and also sought out Chris Burge, an expert in computational biology and the study of gene regulation whose recent entry in the DM field has already led to advances in our understanding of DM. I also sought out leaders in the DM field who have served as informal mentors to me over the past five years and let me tell you, the DM field is absolutely remarkable for its collegiality, drive and focus. As a result, with their help I have been able to make contributions to the field that will hopefully have an impact down the line.

Investigators, we need to bring other people into the field who have complementary expertise that we need; this means your colleagues who study other aspects of biology, our industry partners and those in regulatory bodies. To conquer this disease, we will need, as many have described over the past few days, to work together as a team, and together with patients.

DM families, many people go through life not finding that thing that drives them, that thing they live or die for. Obviously DM in my family has been a curse because of its terrible effects, but on the other hand, DM has given me an incredible purpose in life; a challenge and obstacle to overcome; through which we will all do our best to prevail and become better people.

I urge you to take a moment to imagine a world in which you or your family still has DM, but you aren't limited by practical or financial concerns. What would that world look like? Is it a world in which all doctors know about DM? Is it a world in which most people on the street understand what a DM patient looks like and what their needs are? Is it a world in which teachers at school know how to deal with the needs of a DM child? Is it a world where genetic testing is free? What can we do together to get closer to that world?

This, I think, is the adjustment in thinking that we should all make; to dream big, and of course to later come back to reality, but to have the courage to dream. Progress in the DM field has been phenomenal but we have not yet reached the end of the road. There will be hills and valleys, and numerous storms to weather. We need to be prepared for these moments but must also be prepared for the inevitable day when therapies are a tangible reality.

We must organize so that we can move forward carefully yet deliberately with a passion tempered by prudence. We need to support and encourage one another so that we can get through all of these experiences in one piece, and we must make it our goal to continue pushing on in spite of all odds. We will overcome this disease, but it will need to be a group effort.

In the way that DM has served as a paradigm for diseases of RNA toxicity, let's show the world our paradigm for how to work together to cure a terrible disease.

Eric Wang, Ph.D. 
Harvard-MIT Health Sciences and Technology
Myotonic Fund-A-Fellow Postdoctoral Fellow
Myotonic Dystrophy Family Member