Community

James McArthur, PhD Living with DM1

Leslie Living with DM1

I’ve learned over the years—a lot of what I do to manage my health works. There’s no way I’m going to stop the progression, but I’ve proven to myself that I can mitigate some of the symptoms through diet, exercise, and attitude.

Leslie gazes through the porch windows out toward the sea. The morning fog begins to lift and the coastline reveals itself beneath the spires of wind-bent cedar trees rising from the hills below. Leslie holds her warm cup of tea and revels at the sight—a lifelong dream come to reality.

Originally from Miami and then living much of her life in the major cities of New York and San Francisco, Leslie always dreamed of waking up on the coast. “I never had an ocean view. Now I do,” she affirms with a smile. Leslie and her partner, Jessica, recently moved from the Bay Area to rural Mendocino, California, a small coastal town. The change has sometimes been difficult, but in calm moments like these, Leslie feels assured that it was the right decision.

Jessica goes to the fridge and pulls out an array of containers, each with a different variety of puréed vegetables, proteins, and starches. She spoons a blend of pulverized tofu and lentils on a plate for Leslie. This is Leslie’s standard fair, and she eats five small meals a day. Vigilantly sticking to an anti-inflammatory diet of soft, easy-to-swallow, vegetarian food is not some emerging fad or health craze she’s trying, it is a well-crafted tool crucial to how Leslie manages living with a rare and chronic disease: myotonic dystrophy type 1 (DM1).

Jessica is not only Leslie’s life-partner, but functions daily as her primary caregiver, including preparing much of what Leslie eats. She delivers a plate of food to Leslie, who focuses before taking her first bite. She chews slowly and deliberately and drinks ample water. “Eating is a sacred time,” Leslie explains. “I can’t talk, I can’t be stressed. I can’t eat and run.” She manages dysphagia, or difficulty swallowing which is likely related to myotonia, or the inability to release one’s muscles, a primary symptom of DM1. Choking is certainly a scenario she tries to avoid. Furthermore, digestive issues, something she has dealt with for the majority of her life have been noticeably less severe when she sticks to her dietary regimen.

“I haven’t had a sandwich in who-knows how long,” Leslie muses. Her lengthy journey with DM1 has been brutal at times and required a certain level of sacrifice to maintain her health. However, now in her 60s, Leslie has defied the odds and entered her autumn years with a wealth of knowledge and experience—something she shares voraciously in an effort to improve outcomes for others with chronic conditions.

Leslie places her mug on the tray of a three-wheeled walker and makes her way to her office. For decades, she had no idea that she had inherited a neuromuscular disease, but now the progression of DM1 has advanced to a point where her overall mobility is affected. While she can still take care of many daily needs herself—such as bathing, toileting, and dressing herself—walking, especially for any distance, requires some support.

Sitting in her office chair, Leslie opens up her sound editing software and starts to work on next month’s episode. Her podcast, Glass Half Full, has touched the lives of many across the globe, relaying important tips, tricks, lessons, and philosophies from and for people living with chronic illnesses. For the past six years, she has hosted (both virtually and in-person) a variety of guests to impart this knowledge.

Interviewing others has become a passion for Leslie, extracting the profound wisdom that so many chronic disease affected individuals have to offer for the good of the broader community. “Going from support groups to the podcast—it’s pretty much the same impetus on my part, but now I’m not the one doing the talking.” Her wealth of experience as a support group facilitator for myotonic dystrophy as well as other chronic conditions has taught her that it requires a multitude of voices to broadcast a message that will ultimately impact more lives.

Leslie recognizes that her unstoppable motivation and resilience have served her well in managing her own health, and that not everyone is endowed with that characteristic. “I’ve learned over the years—a lot of what I do to manage my health works. There’s no way I’m going to stop the progression, but I’ve proven to myself that I can mitigate some of the symptoms through diet, exercise, and attitude.” This springs from her lived experience, and the ways she responded to adversity.

Born in Miami, Leslie was an only child. Her mother, Helene, developed health problems in middle age. Helene was a homemaker and could be the life of the party. However, her easy-going ways were undercut by a hidden grief—that of losing a child. When Leslie was a year-and-a-half old, her mother gave birth to a baby sister who only survived for three days before succumbing to respiratory failure.1

The loss of a baby, among other factors, led Helene to drink and smoke often. Furthermore, her diet revolved around meat dishes and soft drinks. “I enjoyed eating my mother’s food,” says Leslie. “But I was gassy and bloated all the time. I felt like a beached whale. I just thought that was how everyone felt, until I went to college.”

At New York University Leslie earned a degree in filmmaking. Afterward, she returned home for several years and watched Helene’s health begin to decline. She had respiratory issues and a bizarre difficulty with letting go of things with her hands. After a series of neurological tests, doctors determined that Helene lived with myotonic dystrophy (there were no subtypes then). It was a rare diagnosis, and she was even displayed for students as part of a medical education program.

Within a year of diagnosis, Helene’s life would rapidly unravel. She started having seizures and then was diagnosed with advanced lung and brain cancer. It had metastasized. Leslie’s father hid this fact from her, but two months after Leslie’s 30th birthday, she returned home. Little did she know, but this would be her last time seeing her mother alive.

“The last visuals of my mother were pretty horrendous,” Leslie recalls. “At one point she didn’t know who I was. She was asking for one of her sisters. She had moved to my old bedroom and was sleeping in my bed. She got out of the bed and went to the windows and wanted to get out of the house. It was very sad.”

A couple weeks later Leslie got the news that her mother had died while eating lunch. The news was devastating. “It took me two years to laugh again,” she says. Leslie herself was conscious of her own mental health, as she suffered from severe anxiety and panic attacks. However, as she slowly came to terms with the loss, she became proactive in getting treatment for her anxiety—an important tool for the years to come.

Leslie had since moved to the Bay Area in California and continued her career in the documentary film industry where she found success and enjoyment. One day while having lunch with a colleague, she went to let herself into his car when her hand froze on the door handle and would not release. “I don’t even think he noticed,” Leslie remembers. However, her mind immediately thought of her mother’s myotonia.

She visited a neurologist who decided to test Leslie for the condition. The results of the DNA test came back positive for DM1, with around 500 CTG repeats.2 Shocked and filled with the realization that her path through the world was changing right before her eyes, Leslie reached out to the one resource she could think of: The Muscular Dystrophy Association (MDA).

“One of the great ironies in my life is that when I was 16, I volunteered for the MDA,” Leslie recounts. Moved by media such as the Jerry Lewis Telethon, young Leslie had assisted campers at an MDA summer camp. The experience, it seemed, had come full-circle.

The slow onset of symptoms from DM1 were beginning to affect Leslie’s daily life. “I was in a high-powered job. I was traveling a lot,” she remembers. Her energy levels were plummeting, and she started getting sick frequently. “’I need to manage this,’ I thought,” says Leslie. On one work trip she got really sick and spent the week lying in a hotel bed. “I got scared,” she says. “I wasn’t pragmatic. I quit my job and started freelancing. I started to focus on health and science, taking online classes.” Leslie started designing online courses in health and science part-time as an Instructional Designer.

As Leslie began to educate herself about how to best manage the increasing symptoms of myotonic dystrophy, she fostered a passion toward patient advocacy. She started facilitating support groups with the MDA, speaking at functions, and attended a myotonic dystrophy symposium at Stanford University. “I was thrown into the water,” says Leslie. “There was no training for support group facilitation. No manual. It was trial and error.” But she excelled, and began a doctoral program in Education, eventually writing her dissertation on how to promote self-management health behaviors in the context of a support group.

Leslie began expanding her reach well beyond the bounds of muscular dystrophy advocacy into all sorts of other chronic conditions, helping train facilitators for those support groups. “If I can say or do something or make a connection that helps someone, it’s so palpable,” she relays. “It gives me purpose. It’s that cyclical thing. It works.”

When Leslie was first diagnosed in 1998, there still was no organization for myotonic dystrophy. That changed in 2012 when the Myotonic Dystrophy Foundation (MDF) was founded, and Leslie found herself immersed in the role of Outreach Director. She also continued to facilitate support groups through the MDF and organize community panels. As the patient community began to grow and become more organized, more drug developers and regulators began to take notice—the first murmurings of a treatment for DM1 came to light. Leslie knew then that her work must continue to help others with her rare disease.

“The movement to include the patient voice as much as possible is important—not just for DM1—but especially for DM1, because for years the research articles would be exploring myotonia as the major symptom,” says Leslie. While she does specifically suffer from myotonia, DM1 is a complex, multi-system disorder that affects a wide variety of muscle systems and causes a host of difficult cognitive behaviors. “There was this idea that people with DM1 didn’t experience pain,” Leslie adds. “I don’t know how people walked away with that idea, but they’ve since changed their tune.”

Leslie’s knowledge and management of her condition have given her more time, more time to continue her advocacy work, more time to spend with Jessica, and more time than her mother had. When she was diagnosed, her life expectancy was put in the 48-55 range—her mother died at 55—but Leslie has now surpassed those expectations. And amazingly, she did this all without any specific treatment or medication for DM1.

“I personally don’t think I will see a treatment that will work for me in my lifetime, but I hope things will happen for younger people,” says Leslie. She laments how people living with more severe, early-onset myotonic dystrophy have often been misunderstood due to the cognitive challenges posed by the disease. “I also think it’s really important to have early detection of the disease, and more education, that will help with family planning.”

Leslie is a person who intuitively connects the dots, whether within rare disease advocacy or with local issues. In the short time she’s lived in Mendocino, she’s become involved in helping preserve and create new accessible trail systems in the area—navigable by scooter or wheelchair.

That afternoon, she and Jessica take a stroll through the Mendocino Coast Botanical Gardens. Leslie’s scooter rolls over the smooth trails with ease, and she and Jessica talk about plants. Since moving to the country, their interest in horticulture has expanded. Their new property has lemon and apple trees which they were able to harvest from. Likewise, learning about the native and non-native plants that grow in Northern California is increasingly valuable.

“You have to smell this one,” says Jessica, her hands running through a short conifer. Leslie reaches over and rubs her hands on the needles to get a scent.

“Ah yes,” she says. “I remember that one.” With Jessica by her side, Leslie glides through the botanical gardens with ease. Together, the two are opening a new chapter in their life, outside the confines of the city, finding a new rhythm surrounded by a vastly different landscape. “Part of my wish, moving here,” says Leslie, “was to have nature play a bigger role in my life.” Finding accessible trails has been a new goal for Leslie since moving—one of the many challenges she has met head on in life—if only to find a smoother path on the other side.

Chad & Michael Living with DM1

We have therapy together every week. We call it ‘couples’ therapy. We are basically a package deal. We live very well together. ~ CHAD

He needs me. ~ MICHAEL

The morning sun peeks through the blinds in Chad’s room but he remains fast asleep. Across the hallway, his older brother, Michael, similarly remains undisturbed by the coming day. Rue, their 20-year-old cat, is first to rise. She slowly stretches her paws over the side of Chad’s bed, yawns widely, and opens her eyes.

Chad and Michael usually do not wake up without some assistance from their mother, Ann. Typically, she calls their cellphones to rouse them, but some days, she prefers to do it in person. Most days the caregivers handle the task on their own, but today, with a multitude of events and appointments, Ann has decided to show up herself. Her pickup truck sits in the driveway as she strides up to the front door and lets herself in. She enters Michael’s room first. The rhythmic sound of his BiPAP machine follows his slow breaths. Michael and Chad both use BiPAP while sleeping to aid them against obstructive sleep apnea, something they both have managed for years.

“Good morning!” Ann’s voice borders on a yell. Michael doesn’t respond but rolls over. She keeps at it, reaching out and grabbing Michael’s hand until he stirs. Using a bit of strength, she pulls on Michael’s arm and helps him sit upright. He leans over and switches his breathing assist off and then, slowly peels off the mask and the pads keeping his eyelids shut. Ann smiles jovially and upon seeing that Michael is not going back to sleep, proceeds to Chad’s room to wake him from slumber as well.

Without a wake-up call of some sort, Chad and Michael would sleep most, if not all of the day. It is one of the most difficult aspects of living with myotonic dystrophy type 1 (DM1), a rare genetic condition the brothers share. The neuromuscular disease affects a wide range of body systems, but is perhaps most felt by Chad and Michael via their relentless fatigue.

To keep them awake, Chad and Michael take modafinil, a stimulant medication. While there is no cure for myotonic dystrophy, there are many piecemeal therapies that the brothers use to keep their bodies functioning as best they can as they age and the disease progresses. The challenge is, the effects of myotonic dystrophy range so broadly, that for each individual these therapies are often different. Being brothers, both born with DM1, there are notable similarities between Chad and Michael’s condition, but there are also crucial differences.

Nobody understands this better than Ann, who is caregiver for her four children and husband—all of whom live with DM1. Her patient and compassionate demeanor is as consistent as her ability to problem solve. Her knowledge on the subject culminated in the desire to write her first book, Surviving Myotonic Dystrophy, published in 2021, which chronicles her family’s experiences and is a tool to better understand the disease. Knowledge not only springs from the familial anecdotes, but also through Ann’s time spent facilitating support groups. On top of all this, she works a remote job for the state of Utah, dispensing advice on food safety.

Ann’s work is driven by love—love for her family despite the unexpected turns their lives have taken. “I’ve had this opportunity to understand what I’ve learned through my kids,” she says. “I wouldn’t wish it on them, but since they’ve had it, it turned me into somebody I’m really proud of. I wasn’t this kind of person when I started on this journey.” She especially enjoys talking with other caregivers and learning new practices to manage the wide array of symptoms and the complications that precipitate. “The most challenging part of being a caregiver is taking care of yourself,” she relays.

Within myotonic dystrophy the wide variance of symptoms and severity has much to do with the precise genetics at play. This is often a result of anticipation, a term that refers to the increase in severity of the disease from one generation to the next. Based on the inheritance pattern of myotonic dystrophy, each subsequent generation tends to experience an earlier onset and more severe form. Unlike their father, who didn’t experience symptoms until middle age, Chad and Michael were both affected as juveniles. “We are what most people call Juvenile Onset Adults,” explains Chad. JOAs for short, Chad and Michael, as well as Warren and Andrea, their two older siblings, have had a remarkably different experience than their father. “However, if we were to have children, who inherit the disease from us, they would be born1 with the congenital form of the disease,” says Chad. Congenital myotonic dystrophy is the most severe form, leading to serious birth deformities and a low survival rate. For this reason, it is advised that none of Ann and Kent’s children have their own children.

Being JOAs, Chad and Michael both require no small amount of help to get through their days. “We have a shortage of gray matter in the frontal lobe,” explains Chad. “We can’t organize well and we have trouble making decisions… My mother does all of our scheduling with us and helps make decisions.” Alongside the physical effects of the disease, the lack of executive brain function makes treating the condition more difficult. This means the brothers need constant reminding to take care of themselves, and do many necessary daily tasks for their health. “The truth is: They wouldn’t be thriving like they are if it wasn’t for the things done behind the scenes,” says Ann. She has plastered notes, to-do lists, and reminders throughout Chad and Michael’s house to set them up for success.

Ann helps Chad do his morning stretches while Michael takes Pepsi out for a quick walk. Pepsi, their beloved miniature schnauzer, perks up as he sees Michael grab his leash and a plastic bag, wagging his tale gleefully. “We are always trying to exercise more,” says Michael. Doing something as simple as taking the dog for a walk around the block is in fact an exhausting activity that can take time to recover from, so instead shorter walks around the perimeter of their backyard suffice. For Michael, his issues with balance and fatigue make getting proper exercise daunting.

Their morning routine continues. Next, the brothers must put on their vests and sit down on the couch. For 20 minutes, they sit side-by-side as the machine vibrates their chests, loosening up any mucus so they can breathe easier throughout the day. This sort of pulmonary support, technically referred to as high frequency chest wall oscillation, helps them maintain lung function. Pepsi playfully jumps up onto Chad’s lap and he pets her soothingly. Along with Rue, Chad and Michael’s pets bring great joy to their lives.

This points to the importance of the brothers having their own home. Regardless of the presence of at-home caregivers and their mother’s daily interventions, the two feel good about being on their own and living as roommates. “We have therapy together every week,” says Chad, and he and Michael chuckle. “We call it ‘couples’ therapy. We are basically a package deal. We live very well together.” Chad and Michael spend much of their days at home, online, playing video games, or going to doctor’s appointments. Neither currently works, but they help each other in symbiotic ways.

Michael, eternally the elder, has often been the philosopher. “He needs me,” his laptop machine says. Michael has never been able to speak clearly, and despite doing speech therapy until he was 19, has never been able to make the plosive sounds in English2. So, instead, he has turned to a laptop, which he types his words onto before they are spoken. Chad, of course, has little problem understanding Michael’s words, and helps him be understood outside the home.

“Michael is a real social butterfly,” says Chad. “He is very articulate, but he has this limitation in his speech that is very hard to catch.” Growing up without speech steered Michael toward writing, one of his most sincere passions. My disability has shaped who I am,” he says. “I think my speech helped me become a good writer, but sometimes I wish I could experience life without my disability.” For the past 10 years, he’s posted his musings and poetry on his blog at writingismyfirstlanguage.blogspot.com.

The social implications of myotonic dystrophy weigh on Chad as well. He and Michael both desire partners in life, but have found relationships challenging. The dating world of DM1 is challenging mostly because of the atypical behaviors that tend to come with the disease. “People say that we have no filter,” remarks Chad. “In some ways, I think that is a good thing.”

Raised among the Mormon Church, social norms and responsibilities were expected of all of Ann’s kids growing up. Kent, their father, came from a family deeply enmeshed in the church. However, despite her best efforts, Ann found herself consistently at odds with the church when it came to how she raised her kids, who unbeknownst to her at the time, displayed prominent features of myotonic dystrophy.

Both Chad and Michael had complications after birth. Michael was born without fully formed lungs and spent over three weeks in the NICU, hooked up to oxygen. Chad was born one month early and he too went to the NICU for four days. One of the main challenges Ann faced with all four of her children was breastfeeding. They all had weak palates and thus needed to be constantly breastfed. This constituted the first perception that Ann was doing something wrong: breastfeeding in church.

Michael was the first to be diagnosed with DM1 at the age of 14. His doctors were considering surgery on his vocal cords when one of Michael’s cousins (on their father’s side) was diagnosed with DM1. Ann took Michael to meet with neurologists who did an initial assessment and thought it likely he had the disease. To Ann’s amazement, upon further investigation and testing, all four of her children and her husband were diagnosed with a rare disease she had never heard of.

Regardless of the diagnosis, Ann and her family continued to be pushed out of their church and their community. The boys both qualified for Individualized Education Plan (IEP) which allowed Chad and Michael to return to public school.3 However, leaving the Mormon community was isolating for Chad and Michael. Although a new community is hard to form, the family found solace in their involvement with the Myotonic Dystrophy Foundation (MDF) and the broader community has helped to supplant some of their desires.

In 2010, Chad was fortunate enough to be selected to be part of The Joy Trip Project, an initiative which paired people with mobility issues with a cyclist on a tandem bicycle to ride across parts of the North American continent.

“I went from Utah to South Dakota on a two-person bicycle,” Chad recalls with glee. “It took me a month or two…That was a big highlight of my life.” The journey was truly transformative for Chad—getting to exist outside of his family’s orbit was eye opening, and the challenge was real. He remains grateful for the experience, as much as he is grateful to have help at home.

With Ann’s assistance, Chad prepares breakfast, which consists of a shake fortified with protein powder. For many with DM1, eating can be a real pain. The loss of muscle tone in the throat means that certain foods become a choking hazard making it difficult to eat enough calories each day to maintain health and weight. Michael has needed to get the Heimlich maneuver multiple times to dislodge food from his throat. This is one of the initial reasons he had a gastrectomy tube or g-tube installed–to simplify the eating process.

“Michael mainly uses his g-tube now to keep him hydrated,” explains Ann. Michael used to get fed through the tube, but decided to stop after he started smelling strongly of the formula. After some trial and error, she realized that Michael was most often choking when he was dehydrated, and so now he uses his g-tube to ensure he gets an adequate amount of water each day, while he can eat non-choking-hazard foods orally.

Sipping on their shakes, Ann reviews again the plan for the day. A doctor’s appointment is slated for the afternoon followed by a visit at home with their father for a game of cards. Ann will do the driving. While Chad can drive short distances, longer trips are best done with another driver. “I can stay hyper focused when I drive,” says Chad. “But only for a short amount of time. It’s the adrenaline running through me.” His bright-yellow SmartCar, parked in the driveway, doesn’t go very fast or far, but suits him well. Michael does not drive, and so when the two want to do a shopping run, it’s usually Chad behind the wheel. The bright color of the car was another conscious decision—much harder to lose sight of or confuse with another vehicle.

Following their doctor’s appointment, Chad and Michael return with Ann to her house for a visit with Kent. On top of their family’s myotonic dystrophy, their father has been battling multiple myeloma for the last ten years. His struggles have taken a toll on everyone, but likewise makes the moments they can be together all the more special.

“If something is going on with Kent,” explains Ann, “Chad and Michael will put down whatever issues they are having, and make sure I can help him.”

At the family’s dining table the cards are shuffled and dealt. Chad and Michael keep spirits up. Their constant quips and jokes bring smiles to everyone’s face. Ann reminds Chad again that it is his turn to go, and he cuts his sentence short.

Despite the various challenges that Chad and Michael face, they are, for many reasons, generally happy people, pleasant to be around and in good spirits. This is medicine to Ann, who continues to fight everyday for her children and husband. Despite the pressures on her from society, she has remained a steadfast caregiver and advocate, doing what’s right whenever possible. “It taught me the value of each person, productive or not,” she says. For all the limitations that myotonic dystrophy has placed on her family, it has done little to diminish the joy she gets from spending time with them.

“I have learned so much about how I am, and how everyone deserves an equal chance,” adds Chad. “I live with limitations, but I’m like anyone else. Having a disability has helped me understand how to communicate with all different people.” Michael smirks and lets his computer speak: “I thank God everyday for the invention of the computer and keyboard.”

Jubal Living with DM1

The worst part of this whole thing is how it passes down to the next generation.

Jubal dismissed his last class of the day and began packing his bag with books. As his students shuffled noisily from their desks, he noticed that one of them was removing a single piece of paper from his bag. Jubal took notice as Jordan found a spot on the bulletin board near the entrance to the classroom and tacked it up for all to see.

“Living with a Hidden Disease?” the top of the flier read. “Discussion and Support Group.” Jubal had always liked Jordan—found him intelligent and a good writer—but the young man seemed to struggle with truancy and often missed class.

He pondered the situation. This was the first time the thought dawned on him that Jordan’s absences might be connected to a medical condition. There was no clear visual sign, but wasn’t that the case with him too? He’d heard murmurings from time to time amongst students about his unkempt appearance, or how occasionally he would stumble with his words, or his legs. In one sense, it was all part of his persona—the eccentric writing teacher who would show up to class dressed as Atticus Finch while the class was reading To Kill a Mockingbird—injecting a theatrical element into the text.

But in truth, the flier hit home for Jubal. Known by most of his students as their flamboyant creative writing teacher, none of them knew of his condition, nor did his colleagues at Brevard, the small liberal arts school where he taught in rural Western North Carolina. To them, he was a published author and editor of a local literary journal, The Pisgah Review.

“I thought that as soon as I told anyone about my disease, that would be the end,” recalls Jubal. “So I kept my illness a secret.” He had recently been diagnosed with myotonic dystrophy type 1 (DM1), and was worried about the implications of letting his students or employer know about the condition. The rare genetic disease affects a broad spectrum of body systems including muscles, the heart, the eye, endocrine and central nervous system. This affected Jubal’s ability to teach, something that he had done for work his entire adult life.

The impacts of myotonic dystrophy were completely out of his control and even his own awareness. His most noticeable symptoms—debilitating fatigue, problems with digestion, coordination, or any form of physical endurance; the long hours spent napping after lunch or the struggle he experienced trying to rouse himself each morning—were taking a drastic toll not only on him, but those who rely on him, including his family.

While still teaching, Jubal never went to the Hidden Disease discussion group that his student led, although he learned that the meetings were well attended. That moment seems long ago, but increasingly relevant to his current predicament.

Jubal reflects on his life and the unexpected turns it has taken as a result of myotonic dystrophy. When diagnosed at the age of 46, the doctors thought Jubal would only be able to teach a few more semesters. In addition to being frightening, the diagnosis was a watershed moment for Jubal and his family—an explanation for the strange behaviors and physical problems that he and his relatives had been dealing with for decades.

“I always figured I’d be teaching until I was at least 70,” says Jubal. However, in his mid-fifties, during the early days of the COVID pandemic, when all classes went virtual, it became clear to Jubal and the college that his capabilities had greatly diminished. “The university offered me to go down to half-time,” relays Jubal. However, half-pay did not suit him well, and claiming disability would be more financially feasible. He decided to claim disability and retire from teaching—a job he loved dearly. “This disease has cost me my job and my marriage,” he adds.

The final decade of his teaching career had been rough. As Jubal threw himself into work, his family life became more and more difficult to manage. Keeping up with two kids, finding time to spend with Tara, his wife, were both scuttled in lieu of his coursework. A big shakeup was coming, and Jubal felt powerless to stop it.

Tara pokes into the room to see if Jubal is feeling alright. Has he eaten yet today, showered? She and Jubal still continue to share a home of sorts, along with Griffin and Olivia, their two children, though they have now divorced. Jubal has an apartment downstairs, while Tara and the kids have the rest of the house. The division is mutually beneficial and allows her to continue to help Jubal as his caregiver, while giving her the space she needs to maintain her own life amidst the challenges wrought by myotonic dystrophy on her family.

Like many living with DM1, Jubal’s frontal temporal lobe has been compromised by the disease. Over the years this has diminished his ability to manage his schedule, problem solve, and take the initiative necessary to keep his life in order. Tara has, in many ways, compensated for his missing frontal lobe function. Making sure the kids are on time for school, that Jubal gets to his medical appointments, and keeping the place relatively tidy are responsibilities thrust onto her because of the cognitive effects of DM1. These symptoms have challenged Tara’s resolve over the years, but she has never given up the fight despite moments of utter heartbreak.

Jubal and Tara waited several years after their marriage to start having kids. The couple first met in Oklahoma, where Jubal was working on his PhD, then moved to Indiana, and finally ended up settling in the mountains of Western North Carolina before they began expanding their family. First came Olivia and then, five years later, Griffin, who was an infant around the time of Jubal’s diagnosis.

Unfortunately, due to the autosomal dominant inheritance pattern1 of myotonic dystrophy, after Jubal’s diagnosis, it was clear that others in his family were likely affected as well. “I was the messenger—the bearer of bad news,” he says. The mutation was traced to his father, who had also passed it on to his sister, and by extension, two of her three children. But the most resounding blow came when Olivia and newborn Griffin were also confirmed to have the condition.

“The worst part of this whole thing is how it passes down to the next generation,” Jubal says. Not only are the genetics that manifest in DM1 dominant, but they tend to increase in severity with each subsequent generation, with an earlier onset. Both Olivia and Griffin have faced effects of the disease at a much younger age than their father.

Tara had, for years, attempted to rationalize bits of Jubal’s behavior. Looking back, she recognizes many of these were due to myotonic dystrophy, unknown at the time. In the years since Jubal’s diagnosis, she has educated herself extensively on DM1 and emerging therapies to treat it.

Even getting the diagnosis was hindered by cognitive symptoms of DM1. “We would’ve gotten the diagnosis five years earlier,” says Tara, “but every time I sent him to the doctor with a list to go over, he would forget.” Jubal would come home certain that he had done everything correctly. “Finally, I went with him to the doctor,” she recalls. “That’s what finally started us down the path.”

In 2006, the family moved from Sylva, North Carolina to Brevard. The moving trucks were packed up and ready to go, when Tara decided to check out one of the sheds in the yard—one that she rarely visited—to make sure it was emptied. “When I opened it up, I found four years of dirty dishes piled up,” she says. “Jubal was in charge of dirty dishes. That was his method of solving the problem.” Her heart broke.

Following the diagnoses in 2011, behaviors such as this had a more concrete explanation, but that did not stop them from posing serious challenges for Tara. “I sat him down that day and said, ‘I can’t manage caring for them and caring for you.’” Overwhelmed and exhausted (young Griffin would only sleep in 20-minute increments each night), she took space from Jubal. About a year after his diagnosis, she decided to seek separation and her and Jubal’s marriage came to an end, yet not their entire relationship.

It took a couple years to finalize the divorce. “We had a party at a bar to celebrate our divorce,” recalls Jubal. “We pledged to live in the same place so I could be a part of the kids’ lives. It was very amicable.” Tara and the kids stayed in Brevard and Jubal began living on his own. However, it soon became clear that he and his kids would benefit greatly from sharing more of their lives together. “I cashed in my retirement,” says Jubal, “So that we could afford this place.” Living back around his children has been a massive boost emotionally for Jubal, and has allowed Tara to continue to care for him as his condition advances.

“Myotonic dystrophy limits some of the things I can do with my kids, physically,” says Jubal despondently. “We went to the beach this summer, but I just sat in the shade in a chair,” he shares. “I used to be a competitive swimmer in high school.” Without the energy and stamina, many activities he used to love have fallen by the wayside. He used to love hiking in the mountains near his home, but stopped after falling down while crossing a stream, stranded until others helped him get back up.

The physical part of it is problematic,” he adds. “I can trace back to when I was kid, there were things I thought that was just me. I had extremely weak hand strength. If I was trying to carry a piece of furniture, my strength just wasn’t there.” It was this lack of hand strength and dexterity that initially tipped off neurologists to the fact that Jubal may have myotonic dystrophy.

Jubal’s hands play a profoundly important role in his life. He is first and foremost a writer and editor, with a deep love for literature. Though his work and his craft has certainly been affected by myotonic dystrophy, it is far from silencing his creative passions. The prolific short story writer published his first full-length book in 2012, titled The Waterhouse.

“I’m not as focused as I was at one time,” admits Jubal. “I take Ritalin and Provigil. With those two medications, I’m pretty close in mental aspects to what I used to be.” The stimulants help him avoid the constant napping and fatigue that has plagued his life. Another thing Jubal has realized is that DM1 has made him less emotional. “That has impacted my writing,” he says. “I love to delve into my characters, set them loose, but I’ve found it challenging. I am looking for that spiritual connection with them, when the writing is coming from somewhere else. It just flows. I love that feeling.”

Writing has always been like a good friend to Jubal, and something he wants to keep in his life regardless of how his disease progresses. “For the first time, I’m interested in writing about my life with myotonic dystrophy,” he says. Now, without the rigors of semesterly grading and course work, Jubal has had more time to focus on himself, and he hopes that telling his story will illuminate the disease for others, who like him, did not receive a diagnosis until later in life.

Jubal’s disease is hidden no longer, and he no longer desires to keep it a secret. It doesn’t bother him in part, because in general he is less emotional now than he used to be—another cognitive effect of the disease. His passivity, and generally easy going attitude makes it hard to notice anything wrong is going on at all. “I will still cry at movies,” he says. “But I’m definitely most emotional around my kids.”

Griffin and Olivia have grown into teenagers who live with early symptoms of DM1, and they share much of their father’s even-keeled vibe. Relaxing out in the backyard of their shared home, they enjoy the early autumn day as leaves begin to change around them. Jubal’s hopes and dreams now are firmly tied to the future of his children. It is a project he and Tara still share. Something that brings them joy, frustration, but most of all, an enduring bond that no matter what challenges arise, they will figure it out together.

Mallory Living with DMD

Living with Duchenne puts you in front of your own mortality. You’re kind of given a list of things that become impossible. Not that they necessarily do, but that’s the way it seems.

With a click from her key fob, the door to Mallory’s van slides open and a metal ramp reaches for the ground. Using a joystick, she smoothly directs her power wheelchair into the front passenger seat. Bracing herself against the back of the chair, she transfers into the driver’s seat, and then in one fluid movement, puts the key in the ignition and fires up the engine.

Mallory’s left hand rests on the handle of her hand controls, which are connected by levers to the foot pedals. With simple movements—forward to brake, back and down to accelerate—she pulls out of her driveway onto the streets. Having a car in the greater Dallas area is extremely helpful for Mallory to take care of her daily needs, and as a person living with Duchenne muscular dystrophy (DMD), mobility remains strongly linked to her independence.

“There was a long series of incremental steps to becoming more independent,” relays Mallory as she navigates the roads with her right hand on the brodie knob, mounted to the steering wheel. “It didn’t happen overnight. I took on the attitude in my general life of trying to piece things back together. Learning how to manage appointments, insurance, and doctors.”

Just this past year, after a series of struggles and personal transformations, Mallory moved out of her family’s home and into her own place, with two roommates. “I’d call it a work in progress,” she says. Managing her own care is sometimes difficult, but being able to drive herself to most of her appointments is a huge boost. She also gets extra help from one of her roommates, who works part-time as a paid at-home caregiver—a situation made possible through Texas Health and Human Services. The arrangement helps Mallory utilize the supportive therapies that adults living with DMD require to maintain what health and mobility she still has.

Mallory was diagnosed at nine years old with the neuromuscular disease, which is caused by a genetic variation that inhibits the production of dystrophin, a protein critical to maintaining muscle function. “One doctor told my mother that I wouldn’t live past 19.” Once considered a disease fatal to adolescents, advancements in treatment have improved the outlook considerably, and everyone’s progression looks different, but now, like many others with DMD, Mallory is immersed in navigating the challenges of adulthood.

Mallory drives to the neighborhood where she grew up, on the outskirts of the city. Transferring back to her chair she descends back down the ramp attached to her van and rolls onto the alleyway behind her mother’s house. The alleyways in suburban Dallas are vast, covering miles. Mallory throws on a pair of headphones and wheels down the alley, finding a moment of peace out of the harsh rays of the midday sun.

Meditative and introspective, Mallory has spent ample time reflecting on the turns her life has taken. At the cusp of a new decade, entering her 30s, she has both reached and surpassed many milestones that, as a young person living with DMD, were not ever taken for granted.

Her success in many respects, rests on her own hard working attitude, cultivated from an early age. “If I couldn’t be good at sports, I’d have to be good at academics,” she says matter-of-factly. She played on youth soccer teams, but as her body changed, so did her interests. As an adult, the internet and social media have played important roles in discovering who she is in the universe.

“It wasn’t really until I started going to counseling, in college, that I began considering the fact that I didn’t like the expectations that were placed on me for being born male,” reflects Mallory. “It was a slow process.”

Mallory’s relationship to her own body was fundamentally challenged first by her Duchenne diagnosis. At the time, she was slower than her peers, but could still participate in most activities. However, during middle and high school, she began to diverge from her classmates more noticeably in terms of physical ability. In high school, she opted to start using a wheelchair regularly to conserve her energy and to avoid the sort of falls that typically force adolescents with Duchenne to use a wheelchair full-time. “I realized the wheelchair gave me more freedom, which I was very accepting of,” Mallory adds.

However, Mallory struggled to accept the idea that she would no longer be able to live a “normal life.” “I thought if I achieve a certain set of goals that was prescribed for me, that I would be as normal as I could be,” she says. “If I could get married, get a house, have kids, all of those things—that would mean that I did everything a normal person could do and my disease didn’t have any impact on me.”

The drive to achieve these goals propelled Mallory into college and graduate school. She attended Southern Methodist University in Dallas, living in the dorms, away from home for the first time, but close enough to get assistance from her mother when needed. She started studying computer science, but was moved to change paths when she realized the impact her skills in math and science could have in the battle against the disease she lived with.

Having completed a degree in biochemistry, Mallory began attending muscular dystrophy conferences with a new perspective. “I wanted to cure Duchenne.” Brandishing such an idealistic attitude, Mallory found lab work devoid of the human connection that she craved so she started to explore different career paths. “I wanted to use my biochemistry knowledge in a way that put me in a direct role helping someone understand a diagnosis or find ways to accommodate their needs.” She looked into starting a genetic counseling program, but found it still did not work for her. Then, she applied to a Master’s in Social Work program and started studying in a new field.

Mallory has always pushed herself to succeed, but the notion was starting to become toxic. Underneath the drive and competence lay a scourge of self-deprecating language and depression. The expectations that she tried to live up to—that she enforced on herself—of living a “normal” life became a cause for anxiety.

The start of the COVID pandemic pushed all of Mallory’s classes online. This increased her social isolation and while alone, her anxieties multiplied. She began to lose her sense of self. By the end of 2020, and into early 2021, she became gripped by panic attacks and unrelenting insomnia. “I didn’t sleep for a whole 30 days,” she says. “I ended up in the hospital.” Feeling desperate, she attempted to take her own life several times and was placed under psychiatric inpatient care.

With the help of counselors and treatment, she began to reassess her situation and pick herself back up. “I realized I was holding myself to a much higher standard than I would hold anyone else to,” she admits. With the shorter life expectancy that comes with Duchenne, she could not afford to spend her days tormenting herself over her own expectations or those projected onto her body by society. She also began to examine her gender, specifically how it made her feel. Assigned male at birth, she had never given herself the time or space to explore the possibility that this part of her identity was inextricably tied to her identity as a person living with DMD.

“The evolution of going from wanting a normal life to really listening to myself, in a way, parallels my discovery of gender identity,” says Mallory. Using social media, she found a friend who was exploring their gender as well. Mallory reached out and started asking questions, seeking resources, and meeting other transgender people over the internet.

The realization completely changed Mallory’s attitude toward herself and set her on a new path toward greater acceptance of who she really is. “There is no normal,” says Mallory. “I don’t need to try to fit an unrealistic ideal.”

Coming out to friends online was the safest place to start. From a distance, Mallory could wade in slowly. Then, she told her family, who despite not anticipating the news, continued to support her lovingly as she began her journey.

Duchenne, being an x-linked disorder, is exceedingly rare in women, who are carriers for the disease but rarely become symptomatic. There is little information out there specifically on transgender DMD-affected individuals. Regardless, being a rare member of a rare disease community places Mallory in semi-uncharted territory, and that has been difficult at times. Mallory strives to integrate her experience in patient advocacy, which remains front and center in her life, with the almost entirely-male perspective in the community.

When Mallory decided to medically transition there were many questions about how hormone replacement therapy would affect a body with Duchenne. She met with her cardiologist, neurologist, endocrinologist, and general care practitioner to discuss potential complications. “For me, that ended in coming to the decision with my doctors that it was OK. We would just closely monitor for any changes that could have a negative impact.”

The initial impact of transitioning has been a positive direction in Mallory’s life. “Once I started expressing myself differently, using a different name, and eventually starting to medically transition with hormone replacement therapy, I think friends and family saw how much happier I was,” says Mallory. The last two years have been a bit of a roller-coaster ride, but it seems she has found a stretch of smooth sailing.

Having now learned to treat herself better mentally has also helped improve Mallory’s physical health, along with support therapies at home. Devices such as a BIPAP machine, which she uses to help her lungs, and a stander, which stretches her muscles, get used regularly. She continues to take corticosteroids, which she started a year after diagnosis, to slow the progression of Duchenne. While there is no cure, Mallory is uplifted by those in the medical community who continue to try and develop novel treatments.

Mallory’s physical health is relatively good for someone her age coping with the severe impacts of DMD. As many others have passed away from the disease in their twenties, she enters her third decade with new hopes and inevitably new obstacles that DMD will throw in her path. She knows she cannot avoid these issues, but instead of lamenting about it, fervently tries to overcome them. “Even though there are a lot of things that aren’t as accessible to me there are still plenty of things that are,” she says. “And a lot of things that may seem inaccessible at first can be achieved through learning what you need and how to articulate that to other people.”

Her smile, candor, and sense of humor shine through even as she talks about the real hurdles she’s faced and she finds joy in her life. She loves to cook, listen to music, and indulge in Japanese animation and comics. Even video games, which Mallory once avoided while working toward a Social Work degree (under the assumption that they were “unproductive”), found their way back into her life where they continue to give her joy.

Back at her mom’s house, Mallory places her three-quarter-sized electric guitar in her lap and starts picking a melody that she learned. Focused, she keeps her head down as she recalls each note, her various earrings shining in the afternoon light. “I like to try new things,” she says, how she once thought she’d never be able to play, but has surprised herself with her own abilities.

The desire to play guitar is in part, inspired by her father, who died suddenly from advanced esophageal cancer in 2015, after Mallory finished undergrad. She was not particularly close with her father—her mother was always the one who did the caregiving and took her to appointments—but the loss remains vivid. “It did really make me appreciate my relationships with people and the time that I do have with people—particularly my family. Since then, we’ve become a lot closer and communicate more openly.” Mallory also has a younger sister who she is close with too.

“I find a lot of strength from realizing how limited everyone’s time is,” she reflects. “I only have a limited amount of time here. I want to spend that time as meaningful as possible and want to try to realize the things that I want for myself in the short time I do have.” Doing what she loves and learning to love herself is how she has made the most of the situation she was given in life.

Colin Living with DMD

The power of community is an overarching theme in my life. Even though I’m unable to walk, I’m still able to get out and enjoy life and enjoy my community.

Colin has been working remotely since before the COVID-19 pandemic. He rolls his power wheelchair up to his desk and opens his laptop and gets back to his current task, redesigning a website. The walls around Colin’s desk are covered in an array of colorful posters from bands he loves and concerts he’s attended over the years. As he works, the sounds of the 1980s are prevalent on his speakers—Talking Heads, Elvis Costello, They Might be Giants—many of whom he’s seen in concert alongside his father, who Colin undoubtedly inherited some of his musical taste from.

Web design is a passion for Colin, and he is grateful to be able to work from home. “I just celebrated working seven years with my company,” he says with pride. After completing his Associate Degree in 2015, he started this job and has continued to be a useful asset to the company, not only designing and maintaining websites, but doing all-around tech support, imparting his knowledge onto team members. This help is reciprocated by his colleagues, who for many years now, have supported Colin remaining part of the team despite the challenges he’s faced living with a disability and a rare disease.

Colin lives with Duchenne muscular dystrophy or DMD, a rare neuromuscular disorder, which is inherited as an x-linked recessive gene and depletes his body of the dystrophin protein, essential to maintaining muscle cells. As the disease progresses, it attacks critical muscle groups, such as those in the lungs and heart. While supportive therapies have improved outcomes for people born with DMD, the inevitable cardiac and pulmonary complications are typically fatal.

Adapting to these difficult circumstances is part of what originally drew Colin toward computer work—a career that he naturally fell into. “I’ve always been the person in my family to help with any computer or phone issues,” he adds. Troubleshooting became second-nature and soon Colin garnered an eye for design elements too. After finishing high school, he decided to seek more formal training in web design and programming, which made him a great candidate for his current position.

Landing the job was a big milestone for someone living with a disease that was once thought to be fatal in adolescence. However, soon after getting hired, Colin sustained a major injury. At age 21, he was still walking short distances, which is not typical for someone at that age with DMD. “I have had a slower progression,” says Colin. However, despite being very careful, one day, while transferring out of a chair, Colin fell and broke his femur.

Femur-breaks are common in DMD, as the use of corticosteroids, which help slow the progression of the disease, simultaneously weaken bone structure, making it almost an inevitability. Colin’s break would require surgery—a partial hip replacement—and he spent the next month in the hospital recovering. As friends and family dropped by to wish him well, he also got a visit from someone he didn’t expect: his new boss. This gesture very much set the stage for what working at his company would look like. “I’m very lucky to have a supportive team around me at work,” says Colin. Early on, his employer made adjustments, allowing Colin to take time to heal and to work mostly from home for the coming years.

The broken femur also signaled the end of Colin’s ambulatory days. Although he first started occasionally using a scooter in middle school, he now began using his power wheelchair full-time—a major transition. This required making numerous adjustments to his life in order to maintain his sense of purpose, independence, and continue to do the things he loves.

“I’ve dealt with challenges by maintaining a positive attitude,” relays Colin. “It is hard, but I don’t wallow too much in the abilities I’m losing. I focus more on the abilities I still have. I don’t want to waste my energy worrying about things that are out of my control.”

Of those abilities, few are as crucial to Colin as the use of his hands. “Being in IT and design, hand function is definitely important for me,” he attests. “I do have some contractures. I’m trying to make sure they don’t get too tight so I can still use the keyboard easily. I can’t straighten my hands anymore, and I can’t straighten my wrists.”

Each day, Diane, his mother, helps Colin do an hour of stretching to maintain mobility. One important stretch involves essentially standing, straightening the back and legs. To do this, Colin utilizes his wheelchair, which has a built-in stander. The joints of his chair move and Colin suddenly begins rising until he is at standing height. Doing at least part of his work day while standing has been a great way to keep up his flexibility.

Diane functions as Colin’s primary caregiver—a role she has grown into. “When Colin was diagnosed, we knew that our lives had changed for good,” she says. Diane put aside her own career in computer science to stay home and help her son. The results have been mutually beneficial. “I don’t regret it all,” says Diane. “I’m glad that I’m able to do this. I feel very lucky. Colin and I have become such good friends and we do a lot of things together.”

Along with her husband, Alex, Diane has learned a lot over the past 25 years, and has done so without having to drastically alter their family’s plans, goals, and ambitions. Alex started teaching at Hampden-Sydney College, a small liberal arts school based in Farmville in 1992, and he and Diane, high school sweethearts, relocated from New England to the town permanently. He continues to work there in the Biology Department, a career that has provided financial stability throughout Colin’s journey with DMD.

Colin was born in 1995, a healthy baby. At three years old, he went to the hospital for a routine tonsillectomy when things took an unexpected turn. He had a severe reaction to the anesthesia and went into malignant hyperthermia—his body began getting dangerously hot, rupturing cell structures, and releasing excessive potassium into his bloodstream. He was rushed to the pediatric intensive care unit at MCV Hospital in Richmond as his parents anxiously waited for answers. It was a resident at the teaching hospital that eventually noticed Colin’s enlarged calves, which is a classic symptom of DMD.

When Colin tested positive for DMD, in an instant, his parents were faced with the range of emotions that come with a rare genetic diagnosis. Now, decades later, they are able to see that against their worst fears, life has gone on. “We’ve learned to live in the moment more,” says Diane. “To enjoy life as much as possible and try to be positive like Colin. He has been an inspiration for a lot of people.”

Colin seeks to inspire others and to be a part of meaningful efforts to improve the lives of people living with DMD and other rare conditions. For the past six years, in addition to his day job, he has worked with Parent Project Muscular Dystrophy’s Adult Advisory Committee (PAAC), advising the organization on ways to support adults living with Duchenne. He has helped organize programming for conferences and shared useful resources with others.

As the possibility of new therapies have rapidly emerged within the biotechnology industry, Colin has also put his experience and skills to good use advising drug developers. In his opinion, providing an adult perspective is crucial to highlighting the various opportunities in treating older patients, who are often overlooked. “Research tends to include more of the younger and ambulatory population,” he explains. Colin understands the challenges of bringing a drug to market and how the process could better include patients’ real-world data. “I do appreciate companies like PepGen that have advisory boards and make an effort to listen to their patients,” he says.

As much as Colin loves his work, the unseasonably warm autumn air beckons him outside. Diane descends the stairs into Colin’s room to help him get ready for an outing. She ties his shoes and Colin rolls out of his door, directly into the afternoon sun. He follows the paved path that makes its way toward the driveway, passing by a wheelchair lift, which he uses to get up to the main level of the house—the kitchen and living room.

Adaptations to their house, like these, are not cheap, but have allowed the family to remain in the same community since Colin was born. The family lives just off the Hampden-Sydney College campus, an important cultural center in their lives. It also borders a decent grove of woods, which Colin remembers playing in when he was young.

The college avails opportunities for learning as well as entertainment for Colin. Attending concerts, lectures, and film screenings are all forms of enrichment that have emerged alongside a supportive community. Each month, Colin’s neighbors throw a happy hour at the end of the cul-de-sac.

“The power of community is an overarching theme in my life,” says Colin. It is a major reason why he has remained so positive over the years, a connection his parents certainly recognize too. “Even though I’m unable to walk, I’m still able to get out and enjoy life and enjoy my community.”

Strong ties at home have helped spur Colin and his family to see the larger world as well. Colin has had an interest in trains for most of his life, and has collected model trains for years. One of his goals was to ride the famous Bullet Train of Japan, the fastest commuter line in the world. In 2018, he and his family made this dream a reality.

Colin riding the Bullet Train in Japan, circa 2018. Source: Colin Werth.

Colin loves traveling, but it has gotten increasingly difficult. “I can’t bring a wheelchair onto the plane,” he explains. “I have to leave my wheelchair, and then they put them in the cargo hold. A lot of people worry about that. Wheelchairs can easily get damaged.” Colin recently got a fold-up powerchair, which he uses specifically to avoid that possibility. Once Colin is on board he faces more challenges, especially getting to the bathroom mid-flight. However, for Colin, these inconveniences are outweighed by the intrinsic joy of experiencing distant places.

Alex’s speciality is marine biology, and over the years Colin has gotten to accompany him to marine mammal conferences around the world, including New Zealand and Spain. Colin is eternally grateful to have had these opportunities. One of the most difficult aspects of any rare disease is the isolation that families and individuals can experience, and in Colin’s mind, there is no better way to break that than seeing the world, new cultures, and trying new things. He has found ways to do this and maintain a sense of independence, despite a good understanding of the importance of having dependable support structures in his life.

The falling brown leaves are a sure sign of winter, hiding in plain sight, but it feels eerily like spring. Colin can’t believe he is outside in short sleeves in November, and soon he and his parents take to the paved paths for some exercise. There is a small network of paved trails connected to the college and these allow Colin access to moments like these without having to load up into the family’s wheelchair accessible van and get driven somewhere.

The sound of the electric motor of Colin’s chair mingles with the bird calls and insects chirping around them. Alex and Diane eventually drop back as Colin speeds up and zips around the next bend. As much as DMD has changed their lives collectively, in moments like these, nothing seems amiss. Diane, like Colin, sees this as inextricably tied to their support system, and their community. “We’re lucky to live in this small community on the college campus,” says Diane. “Everybody has embraced him and has been wonderful to him. I think it’s been a good thing for us.”

David Living with DMD

If I didn’t have a disability, I would just be normal. I would walk around and be normal, like other people, but I’m not. I’m different. And it’s ok if you’re different. Everybody is the same.

David looks out the window in his family’s living room awaiting the first snowfall. He has an innate love of winter, of snowy slopes and frozen ponds ready to be traversed. It can be a waiting game early in December, for the first flakes to arrive. Until the weather really turns, David occupies himself with indoor activities. He scrolls on his tablet, watching videos on YouTube, learning about faraway places and cultures that fascinate him—places he hopes one day to visit.

Across the room is David’s closest and most trusted friend: Bandit, curled up on a cozy bed. With golden fur and a soft, red nose, Bandit is easy to adore. “He’s a good boy. I love him,” says David. He puts down his tablet and calls to Bandit, whose ears perk up. “That’s right B? I love you. You know that.”

Bandit is David’s service dog and over the past five years have become best friends. Bandit helps David with accessibility and mobility, an important issue for someone born with Duchenne muscular dystrophy (DMD), a rare neuromuscular disorder that has weakened David’s muscles and taken away certain physical abilities that he once had. Bandit is one of many pieces of the puzzle of adapting to a different set of challenges and expectations—something he and his family have done with grace.

David sits perched in his power wheelchair—his most important mobility device. When he drops the TV remote to the floor, out of reach, he calls his four-legged helper.

“C’mon boy. Grab me the remote,” says David and Bandit jumps into action, wagging his tail and snatching the device from the ground. This is just one of 40 or so commands he responds to, including opening doors and turning on lights.

Beyond basic help with accessibility, Bandit has provided David with companionship. The two have become virtually inseparable, and each night Bandit sleeps in David’s room, next to his bed. “He used to accompany David to his doctor’s appointments,” says Lisa, his mother. David once had an emotionally difficult time at appointments, but with Bandit by his side he has been able to feel safer, and remain calmer throughout.

It took some patience for David to get a service dog, but the wait was well worth it. Bandit was first raised and trained by Canine Companions, a national organization which specializes in matching dogs to people with different disabilities. The need for service animals is huge, and thus, David had to wait over two years before he could go with Lisa to Long Island to meet Bandit, and take a two-week course before he was able to take his puppy home.

Having a very well-trained furry friend is just one strategy that the Shortlidges have employed to give David the highest possible quality of life for someone living with a rare, degenerative illness. While medication and therapy can slow the progression of DMD, there is no way to stop it, yet.

“I had an expectation of having kids, taking them with me hunting, and going hiking,” says Joel, David’s father and an avid outdoorsman. He and Lisa shared a love of adventuring outside together, which was a big reason why they settled in New Hampshire. “Those expectations have had to be modified, but we’re having fun in our own way,” he continues. “We’re doing the things we can do. Really filling those days that we do have with as much enjoyment and as much experience as possible.”

Neither Lisa nor Joel had any knowledge of Duchenne prior to David’s diagnosis, but observed that he was meeting certain developmental milestones, such as crawling and walking, at a slower pace. At three years old, a pediatrician suggested that they consult a geneticist who eventually ran a wide-ranging genetic test to determine what might be causing David’s difficulties. After waiting months, the test came back positive for Duchenne in February of 2012.

“When we first got the diagnosis, for two weeks we got extremely depressed,” says Joel. “We were down in the dumps. It was difficult for both of us.” Quickly, he and Lisa began to change their mindset and not let a diagnosis define their lives. “One day we just looked at each other and snapped out of it. If we have a limited amount of time here, what are we doing feeling sorry for ourselves?”

Since then, Joel and Lisa have fought to show David the world and get to live out his dreams. Not long after diagnosis, they signed David up for a trip from the Make-a-Wish Foundation. David wished to see an active volcano, and he and his family traveled to Hawaii where they visited the lava fields and stood at the foot of Kīlauea. In fact, finding joy and adventure are as much a part of their life now than at any other point.

“I’ve been to 37 states,” David proclaims. He and his family are on a quest to visit all 50. This desire to travel stems from his fascination with history and has been dutifully supported by his family and community. Because David uses a power wheelchair as his primary means of mobility, traveling by car is their preferred method (although they obviously flew to Hawaii).

“We’ll usually pick a place to go and then look at the route,” explains Joel. “We’ll drive the interstates to get there quickly, but then, on the way back, we’ll take the smaller roads and find interesting places to visit.” David’s knowledge of history is often the guide for the family van. Once, while driving through Kentucky, David got the inspiration to visit Abe Lincoln’s birthplace, which he surmised was nearby. “We didn’t even know it was in Kentucky,” says Joel. Sure enough, a few miles down the road, the signs advertised Lincoln’s birthplace.

As much fun as the Shortlidges have traveling together, it is not easy. Making sure they have accessible places to stay is deceptively complicated. “We learned pretty quickly the difference between a place being ‘handicap accessible’ and ‘wheelchair accessible,’” says Lisa. She recounts numerous occasions where plans have had to shift because of this. David does have a travel wheelchair, which is lighter weight and can be lifted more easily. Depending on where they are going, which vehicle they are taking, and who they are staying with, they must decide what gear to bring.

If figuring out how to get far away is one challenge, the other has been adapting their house to best suit David’s needs. Few things have made as big a difference as simply being able to get out of the front door without problems. As David’s DMD progressed and walking became difficult, navigating the front door and its three brick stairs became more and more precarious.

David had many falls, and the combination of osteopenia, or low mineral mass in his bones, and taking corticosteroids, which slow the progression of Duchenne, have led to numerous leg fractures over the years.

Growing up, he always had to be careful when descending the steps, and sometimes he fell, but holding the steel railing, he could often do it himself. Then, at age 11, he transitioned to using a wheelchair full-time and the stairs were no longer an option. This transition, often seen as emotionally difficult, was actually quite helpful to David, who has enjoyed the independence provided by having his own set of wheels.

Fortunately, a solution to the front stairs was close at hand. A family friend was cleaning out a property which had an aluminum ramp. After one phone call to Joel, the ramp was on its way to the Shortlidge’s house. Then, in the coming weeks, the local fire department in Derry helped install the ramp, which now runs from the front door directly to the driveway.

The next big modification is forthcoming. David’s family is planning an addition that would provide him a first-floor bedroom. Currently, when it’s time to get ready for bed, David must make several transfers to get upstairs to his bedroom. First, he must transfer from his power wheelchair to the stairlift that runs the course of the stairs. “It’s kind of like a train,” he says. Once strapped into the seat, he rises to the stairs with the push of a button. Yet, again at the top of the stairs he’ll need to be transferred to a smaller chair that helps him get around the second story of the house, where he can change into pajamas, brush his teeth, and go to bed.

The addition has been on hold for a couple years with supply chain and labor issues due to the COVID-19 pandemic. However, Joel and Lisa are determined to figure out, logistically and financially, how to complete the large home project.

An important part of balancing their books has been Joel’s lucrative full-time work in the financial sector, which has undoubtedly helped the family pay for the expenses associated not only with DMD, but in providing David a multitude of meaningful experiences. Lisa meanwhile, works as David’s primary caregiver, gets him to appointments, and is most involved in his schooling, which has been one of the true blessings of living in Derry, NH.

“I’m a licensed nursing assistant,” explains Lisa. “So, it’s easier for me to step up and take that role.” However, there are times when she is simply too exhausted to keep up with all the tasks at home and caring for David. “There’s times that I’ll ask Joel to put David to bed,” she says. “He never complains. He’s always there.”

Aside from their clear focus on David, his younger sister, Emiline, cannot be left out. “Sometimes we make plans to do our own things with Emiline that aren’t accessible to David,” explains Joel. At 12 years old, she maintains a healthy friendship with her brother—her companion on long car rides, and frequent gaming opponent. “We generally get along well now,” she says. “When we were younger, we used to fight more.”

Enjoying the mountains of NH is very important to the Shortlidge family, and fortunately, they have found adaptive skiing programs which have allowed them to go up to the mountains for ski trips together. David uses a mono-ski, a device that allows him to sit above a single ski, while guides, tethered to him via straps, help him navigate down the mountain.

David also loves to play sled hockey, an adaptation of the sport where he is pushed on a sled and can use short stickies to chase down the puck. “My dad’s a good skater,” says David, excited for when the local ponds will finally freeze over.

Between the family’s travels across the United States, their access to adaptive sports, and the strength of their home community, the Shortlidges have provided a framework to keep David’s life dynamic, and stave off the isolation that can persist with a rare diagnosis.

A lot of this however, David does on his own. “He does well at making friends. He’s very outgoing,” says Lisa. “In elementary school his teachers called him the ‘mayor.’ Everyone knew him in school.” David has recently started high school, and although he has an IEP and is on a slightly different educational track than other kids, it does little to make him feel excluded.

David at 14, has an intrinsic understanding of how to be happy, and he is rarely shy when meeting new people. “He goes through the situation that he has with a smile on his face,” says Joel. “I don’t know if other kids would be able to put up with the obstacles put in front of him.” David’s ability to adapt and persist is not only changing his perception of his situation, but that of those around him.

“Life without the chair would be good,” says David, imagining the possibilities. “If I didn’t have a disability, I would just be normal. I would walk around and be normal, like other people, but I’m not. I’m different. And it’s okay if you’re different. Everybody is the same.”

Expanded Access Policy

PepGen is developing Enhanced Delivery Oligonucleotides (EDO) for the potential treatment of neuromuscular disorders. We are currently conducting clinical trials to assess the potential of our investigational EDOs. These clinical trials have specific inclusion and exclusion criteria designed to best interpret data at this early stage of development. The data generated from these trials may allow PepGen, in the future, to apply for necessary marketing approvals from regulatory bodies such as the U.S Food and Drug Administration (FDA) and the European Medicines Agency (EMA).

When a person is unable to participate in a clinical trial, there are a specific set of criteria that can allow the person to have access to the investigational drug. These situations are often called expanded access programs (EAPs), compassionate use, or early access. To qualify, the person must have a serious or immediately life-threatening disease or condition, there is no comparable or satisfactory therapy available to the person, and the potential benefits justify the potential risks of the treatment. In this situation, a person’s physician may seek access to investigational therapies outside of the clinical trial setting.

Currently, PepGen does not offer expanded access to any of its investigational EDOs outside of clinical trials as the company is still obtaining preclinical and clinical data to better understand the risks and potential benefits of its investigational EDOs. As a result, access to our investigational EDOs is only available through participation in clinical trials. As we continue to develop our investigational EDOs, our goal is to provide access to these therapies at the appropriate time and with the best interests of the community in mind. Should PepGen decide to make expanded access available in the future, this policy will be updated, including the criteria PepGen will apply in evaluating requests for expanded access.

If you are a healthcare provider who is interested in learning more about one of our investigational EDOs, or a physician with questions about this expanded access policy or participation by your patients in one of our clinical trials, please submit a request to clinicaltrials@pepgen.com. The company will acknowledge questions as soon as possible and generally within seven (7) business days of receipt.

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Disorder Community

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Duchenne Muscular Dystrophy (DMD)

DMD Community FAQs

Where can I find details about your clinical trials?

Will PepGen study its EDOs for other DMD mutations?

Which exons are skip amenable?

How does exon skipping work?

What are clinical trials?

What is your Expanded Access Policy?

Myotonic Dystrophy Type 1 (DM1)

DM1 Community FAQs

Where can I find details about your clinical trials?

Can PGN-EDODM1 treat DM2?

Can PGN-EDODM1 treat juvenile DM1?

What are clinical trials?

What is your Expanded Access Policy?

Professor PepGen

Lesson 1

Lesson 2

Lesson 3

Lesson 4

Lesson 5

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Community

Fostering impactful connections

PepGen and the Neuromuscular Disorder Community

Contact the PepGen Patient Advocacy Team

Community Partners

Duchenne Muscular Dystrophy (DMD)

DMD Community FAQs

Where can I find details about your clinical trials?

Will PepGen study its EDOs for other DMD mutations?

Which exons are skip amenable?

How does exon skipping work?

What are clinical trials?

What is your Expanded Access Policy?

Myotonic Dystrophy Type 1 (DM1)

DM1 Community FAQs

Where can I find details about your clinical trials?

Can PGN-EDODM1 treat DM2?

Can PGN-EDODM1 treat juvenile DM1?

What are clinical trials?

What is your Expanded Access Policy?

Professor PepGen

Lesson 1

Lesson 2

Lesson 3

Lesson 4

Lesson 5

Lesson 6

Expanded Access Policy

Fostering impactful
connections

PepGen and the
Neuromuscular
Disorder Community

Contact the PepGen Patient
Advocacy Team