Family / Patient Story | Myotonic Dystrophy Foundation

In Remembrance of Dad: Reynold Wantseng Wang

Published on Wed, 01/25/2023

親愛的爸爸

In
Remembrance
of Dad

王望塵 - Reynold Wantseng Wang

February 17, 1953 - January 8, 2023

Written by his son, Eric Tzy-Shi Wang (王滋熙)

The actual events actually closely mirrored how I imagined it might happen. I was about as far away as earthly possible – halfway around the world, on a surf trip with college friends in the South Pacific. Not yet having adjusted to the new time zone (17 hours ahead of the East Coast), I was wide awake and had received an urgent text message at 4:57 AM from my mom. It was mid-day in Pennsylvania, and she was with my dad at the hospital. Where I was, it was still dark, and I had just gone to get some coffee and toast. I recall the soft yellow glow of night lamps and the ebbing and flowing of gentle waves onto the shore of our tiny island. Over the next 20 minutes, through a garbled discussion with doctors via my mom’s speakerphone, I would learn that my dad’s heart had stopped earlier at home. They had tried to resuscitate him in the ambulance but to no avail. It was a shock – I had just seen him a little over a week ago, over the winter holiday break; he was on his way to celebrating his 70^th birthday in a little over a month.

The salty humid air enveloped my body as this news sank in. I did my best to maintain my composure as my friends milled about, getting ready for the first surf boat out at 5:30. My mind went in a hundred different directions. I remembered times with my dad from my childhood, when he taught me how to play basketball; I vividly recall one instance in which he had let me win, pumping up my ego to believe that my skills had bested his, despite measuring a whole 4 feet 2 inches. I remember playing catch with him using a real baseball for the first time, and the unfortunate black eye I got from misjudging one of his tosses with my new baseball glove. I remember his encouragement to just “go for it” after taking the training wheels off my bike earlier than any of my friends on our street – he helped me get up after every crash, and proudly watched me do figure eights in front of our house by the end of the day. As these memories replayed in my head like old movies, I sank into feelings of gentleness, kindness, wisdom, and calmness that my dad carried with him everywhere he went. I could feel the kisses and raspberries he used to lay on me and my younger brother, Thomas, as kids, teasing us before bedtime, providing a blueprint for my own interactions with my 2 year old son. At the same time, the underlying sadness I carried about my dad’s health condition – a longstanding struggle with myotonic dystrophy (dystrophia myotonica, DM), reached its lowest point – I would never be able to speak to him, hug him, or hold his hand again. Twinges of guilt and failure also stabbed me – I had the distinct feeling that I had missed an important deadline – that the scorecard had come back, and I had been unable to complete my assignment by the due date.

Left: Dad with his parents in Taipei Songshan Airport in 1983. Right: Dad with my mom's uncle at the University of Missouri, Columbia campus in 1979.

My dad had lived with symptoms of DM for over 30 years. His muscles had gotten extremely weak to the point where he required assistance to move around the house, eat, and function on a daily basis. He could not lift his arms high enough to bring utensils to his lips and was non-ambulatory. In 2015, he had gotten a pacemaker and implantable cardioverter defibrillator, since his heart beat as few as 28 times per minute, and he was at risk of sudden death due to heart rhythm disturbances (typical in DM). He was diagnosed when I was eight years old, and over the years, I watched him lose the ability to do many of the activities we did together when I was a child. After college, with the encouragement of friends and colleagues, I decided to defer my medical school acceptance to instead pursue a research career. My mom later told me that she was very nervous about my decision, since most researchers she knew had a lot of trouble getting their experiments to work (my experience is actually no different – research is difficult!); but my dad supported it, saying that it was important that I pursue something for which I was truly passionate. I decided to focus my training and career on better understanding molecular mechanisms of DM, and it had always been an ambitious goal of mine to find a medicine for my dad. Thus, my dad’s journey ultimately served as a guidepost and motivating factor for my life’s work. I have publicly written and spoken about his story in multiple forums^1,2,3, and he always encouraged me to use his story to help others in the myotonic dystrophy community. As a young PhD student, I attacked my research, sometimes with reckless abandon; I was initially quite naïve about all the steps required to develop medicines. As I built my own lab, worked with drug companies, and learned about the clinical trial process, I came to realize that many key events and milestones would not be in my control, and that there would be a limit to how quickly we could learn and control basic principles of biology and physics. In recent years, I gradually admitted to myself that treatments, including experimental ones, might not be in the cards for my dad. Feelings of self-doubt still plague me frequently; I daily question how I spend my time – our most precious, non-renewable resource. I ask myself many “What ifs” and struggle with how much energy to focus on translational research rather than basic foundational science⁴. Although prudence, thoughtfulness, and wisdom are touted as benefits of maturation, at times I wish for the naïveté displayed by new students who might move quickly and act impulsively, lacking baggage to trip over or carry. However, in the past few days, I have been comforted to learn that my dad felt that even if he would never see treatments for himself, that younger generations living with DM should certainly stand to benefit, and that I should continue to persevere and not give up.

Top: Dad's college basketball team (top row, 2^nd from the left). Bottom: Dad throwing the javelin.

My dad was born on February 17, 1953, in Taichung, Taiwan, the 2nd of 5 boys. His father was a businessman and government official in China, and he left for Taiwan in 1949 during the exodus of the Kuomintang. My grandfather loved chess (I still remember chess with 爺爺 – yéye), travel, and calligraphy. My grandmother had worked for a bank prior to having children and liked to play the piano, cook, and sew. My dad loved his brothers and family – he would reminisce about how the five brothers would jaunt around the neighborhood in dramatic and somewhat intimidating display – all of them (including my grandfather) were nearly 6 feet tall or taller and very handsome. One of my dad’s college roommates reached out this week to recount his visit to my dad’s home – he noted that the bathroom mirrors were all much too high for him, given the height of all the males in the family – only my grandmother had a separate mirror, hung at a “reasonable” height. My dad developed a great love for music and sports during his childhood. He never had a formal piano teacher, but taught himself, and also taught himself how to play the guitar. He loved classical music and The Beatles, The Carpenters, Simon & Garfunkel, the BeeGees, and Engelbert Humperdinck; college friends described his ability to discern and understand English song lyrics much better than anyone else, displaying these skills by singing full sets of Beatles’ songs while playing the piano. In the US, my dad was the conductor of the local Overseas Chinese American chorus while I was in elementary school. My dad fully instilled a love of music into his sons and supported our training; I learned to play violin and seriously considered a music career, and my brother learned to play the piano. He would bring novels to read during our weekly or twice-weekly lessons, and there was a period of time in high school during which he took us to concerts performed by world-renowned musicians on a monthly basis. My dad also spent much of his childhood and college years playing basketball and generally enjoying the outdoors; this foreshadowed my own experiences with him when I was a child, but unfortunately it became more and more difficult for him to participate as time went on.

Top left: Mom and Dad at the Lake of the Ozarks. Top right: On the campus of University of Missouri. Bottom left: Overseas Chinese Association Gala. Bottom right: At the Great Wall of China.

My dad majored in Physics at National Tsing Hua University - a highly competitive, math and science-oriented school that accommodated only ~45 individuals per class. Many of his classmates have stayed in touch over the years, and two of them had visited him in recent years. Memories of my dad have been flooding into my mom’s phone this week, and it gave me great joy to think about the deep connections he had formed and maintained over the years. I drew parallels to my own situation – the day of my dad’s passing, I told my friends of the news. They could tell that something was amiss and wrapped themselves around me physically and emotionally. As the child of immigrants and despite my parents’ best efforts – my childhood was peppered with feelings of “otherness” – and a difficulty in believing that others might truly accept me. I will never forget my departure from the island as they walked me to the boat and waved goodbye, and the feeling that I was genuinely supported, accepted, and loved. Over the past few days, I have been happy to learn that through the very end, my dad was also surrounded by love and support from far reaches of the world. There were silly stories of how his classmates chose him to be a goalkeeper for the soccer team, since he was extremely tall (they used the phrase 玉樹臨風) in comparison to everyone else. Initially they were completely disorganized, with people running every which way and kicking the ball with no rhyme or reason, and my dad didn’t want to play this position. But after a while, with dad’s help to coach everyone, starting from the bottom, they started winning many games, and eventually started beating teams from other colleges. There were additional common themes in messages to my mom:

“Reynold was the most talented, well-rounded individual - he was good at basketball, guitar, piano, and looked like a Chinese Elvis Presley - it was an honor to be his classmate.”

“We will always remember Reynold as a tall, strong, handsome man. He lived a full life, and although he suffered greatly through his illness, great meaning resulted, by inspiring others to pursue research for muscle disease.”

Top left: Paris, 1984. Top right: About 2 weeks after Thomas was born (late 1984). Bottom left: Taroko Gorge, Taiwan, 2009. Bottom right: Pennsylvania, 2019.

My dad met my mom in graduate school, at the University of Missouri, Columbia. They first met through the Chinese Students’ Association – my dad was the president, and my mom was the treasurer. My dad later went to my mom’s dorm to knock on her door; she answered and said “Oh, are you looking for so-and-so?” and my dad said, “No, I’m looking for you!” They often visited the local pizza shop, played bridge together, attended concerts, went fishing in Lake of the Ozarks (one time they caught 11 big bass!), and eventually got married. This week, one of their close friends from graduate school shared that my dad had said that “In the next life, [he] would still choose to marry my mom”, and that my mom joked back, “But are you sure I would say yes again?!” In addition to being my dad’s companion and best friend, my mom eventually became his sole caregiver. She was able to manage many of his health issues on her own, with support from me and my brother from a distance, but it was not without challenges. After my dad unexpectedly tumbled down the stairs, they installed a stair lift. To get up and down from chairs, they followed a precise series of steps and weight transfers – perhaps an unexpected adaptation of my parents’ dancing skills (my dad was famous for teaching his classmates how to dance). Nurses in hospitals marveled at the system they had established to be able to get him around the house with minimal strength/force; my mom was only about 5 feet tall and at least 80 pounds lighter than my dad. They pursued innovative solutions, working with a local mechanical engineer to build a custom motorized actuator that allowed my dad’s favorite armchair to rise and fall; off-the-shelf motorized recliners did not work well and would cause him to get thrown onto the ground. They renovated their bathroom and shower to allow for easy transfers from a wheelchair onto a shower bench, and had custom tile work done to display the 福 character (“fortune”, or “good luck”) prominently on the wall, using a variety of styles from different Chinese dynasties – this word is also a homonym for 扶 (“support” or “hold on”), and so this word has a double meaning to hold onto to the grab bars and not fall. They traveled around the world with their family – visiting the Great Wall of China, Hawaii, Taiwan, and all over the United States – and never let my dad’s different abilities prevent them from fully experiencing life. My mom took great care of my dad and made his health her top priority; but my dad never wanted to place undue burden onto her or any of his children. Although his wishes were to never live anywhere other than his own home, such as an assisted living facility, he planned carefully with my mom to ensure that his eventual passing would be smooth and seamless. Through the very end, my parents together never stopped pursuing new solutions to keep my dad as functional and comfortable as possible – even inventing them if they did not exist – and my dad participated in these decisions while also prioritizing the well-being of the rest of his family.

Top left: Hawaii with my wife, parents, and brother in 2012. Top right At the Great Wall of China in 2016. Bottom left: My parents with dad's college friends Ming, Angie, and Chung-Fu at home in 2017. Bottom right: Dad with my son in 2022.

My dad earned his PhD in 1983 in physics; his thesis was entitled Neutron Scattering Study of Two Dimensional Films. I owe much of my interest in science and problem solving to him. I remember long car rides during which we would explore questions in depth – in an inversion of the typical parent-child pattern, he would be the one to encourage me to ask “Why?” in response to every subsequent answer. I remember him helping me come up with ideas for science fair projects. In 7^th grade, I sought to measure the refraction indices of differently colored light (e.g. measure the impact of wavelength) in different liquids (e.g. measure the impact of density by dissolving sugar). He coached me to start my presentations by defining and asking a specific question – this lesson recurs for me over and over in my life as a scientist, and it is something I try to teach my own students in the lab. As I reflect on my own academic career, I realize that my scientific approach and philosophy were likely indirectly shaped by my dad’s PhD advisor, Haskell Taub. My parents told me fond stories of how they felt that they had been adopted in this new country by Dr. Taub and his wife – welcomed into their home for memorable dinners and subjected to rigorous yet supportive training. One of my dad’s younger brothers would later also receive his PhD under the direction of Dr. Taub, a mutually sought-after arrangement, given the productive and warm relationship they had.

According to my mom, my dad displayed extreme calm under stress and pressure throughout his PhD – a quality he may have passed on to me as well. In 5^th grade, I remember competing in our school’s Science Olympiad – teams of 4 were tasked with building a balsa wood structure to withstand as much weight as possible. Our structure held 25 pounds, but I believe the winner held at least 50 pounds, demolishing our performance. I was upset not only about the outcome, but because I also felt that towards the end of our group project, many of my team members had deserted and not fully pulled their weight. This was one in a long series of endeavors in which I burst into tears and react excessively negatively to an upsetting experience. I vividly remember my dad telling me to “be cool and stay calm.” He drilled this into my head repeatedly, and today, I am characterized by friends and co-workers as being exceedingly unflappable in the face of stress. Someone could be aggressively screaming at me to my face, and I might look at them calmly and respond in an annoyingly rational, objective fashion. In the face of progressively declining health, my dad always maintained a positive attitude - he always remained calm and collected. While he may have been distraught inside, he remained our rock and gave us hope throughout all his challenges.

Clockwise, from top left: Dad thinking about a physics problem, Dad in a Beatles hair phase, 2 pictures of the deck he built, and the bridge that I built at my parents' house.

There are so many more things my dad did for me that I appreciate, and what I write here is only limited by the time I have set aside in these past few days to recall these memories. My dad was a capable woodworker – together with one of his brothers, he dug post holes for a 600 square foot deck behind our house, and then single-handedly built the entire structure. He taught me how to work with wood and power tools, and I later used those skills to build a bridge and pond at my parents’ house, the stairs in my own house, various pieces of furniture such as a kitchen nook/bench, and numerous desks and bookshelves. When my brother, Thomas, and I were young and my parents were in the initial stages of raising a family, my dad would always forgo new shoes, clothes, and other necessities – he would tell my mom to spend the money on his sons. One of the symptoms of DM is to have trouble waking up in the morning due to extreme fatigue. However, for quite a long stretch of time in middle school – in response to a comment from my brother and me that we would get hungry during the day – he woke up every morning to make us a hot breakfast. He gave the most wonderful speech at the rehearsal dinner at my wedding – my college friends to this day remember this speech in which he described how it was not an easy task to raise children well, but that he had great pride in me as a son, and that he was overjoyed to now have a daughter to spoil and love as his own. My dad was a true romantic at heart and loved the feelings of connection and love elicited by endings of sappy movies. He s pent many of his recent years reminiscing about old friends and old times and imagining the adventures of his children around the world. During the holidays, he would wait for us to return home with great anticipation, reminding my mom to be prepared with our favorite foods. As there is never enough time with loved ones, I wish I could have visited or communicated more over the past few years. Ever since starting my own lab, I fully immersed myself in research, and was not always as present as I would have liked – but I am comforted by the fact that we held a shared understanding and a deep unspoken love for one another.

Top left: Dad's custom built chair with a linear actuator.Bottom left: Close-up of the lift mechanism. Top right: 福 character (“fortune”, or “good luck”) in my parents' driveway. Bottom right: 福 character on shower tiles.

My dad has been a physical and symbolic beacon for my life’s work and the work of many others. When I entered this research field in 2006, molecular therapies were not yet on the horizon. However, over the past 15 years, a great deal of progress has been made in DM and other related diseases, and transformative therapies and entire therapeutic modalities are maturing. Clinical trials have now begun for DM, and the most recent results have been quite encouraging. My dad always taught me to form a broad vision – to look far into the distance and take a long view on big problems. What will this disease look like in the context of these new interventions? While most of them are targeted at alleviating muscle symptoms, they may not address disease symptoms in the brain, which can also be profoundly affected.

My purpose has gradually evolved over time, even more so in recent years, given significant advances in the drug development landscape. When I was home just a few weeks ago, my parents asked me how quickly medicines might be available, given recent encouraging clinical trial results. I said that it could still be a few years, since my dad’s advanced age would likely make him ineligible for any ongoing trials, and that several phases would still need to be completed. My parents generally tempered their expectations regarding these topics to avoid disappointment or unreasonable expectations, but this time, they displayed some feelings of surprise and resignation. During this visit, my dad seemed to have declined more rapidly than usual since the last one, and I could tell that he was tired. When we left, I made a point to say that we’d visit again soon in the spring, fearing further impending decline. Mentally and emotionally, I had already periodically grieved over the years, every time I realized he could no longer perform a certain function or participate in a certain way. For me, his passing punctuated a slow, unrelenting march of deterioration. The nagging feeling that we were too slow to provide treatments for my dad will never go away, but my mission has never been limited to helping just my immediate family. Because of my dad’s experience, I have met countless families with similar journeys (with DM and other diseases), and in line with my dad’s wishes, I will continue to carry out my own research and support others by being with them and learning about their experiences. Our community is now so close to seeing the benefits of years of research, and one of the best ways to honor and remember my dad and others who lived with DM is to fully close the loop, ensuring that treatments are available to all who seek them.

Top left: Dad checking the waves with me when I was in high school. Top right: Dad playing in the water in college. Bottom: One of the waves from my recent surf trip, the day before my dad passed. (Credit: Scott Winer)

We tell stories to make meaning of disparate events in our lives. We cobble together narratives to emphasize certain points or lessons we wish to share with others. The events leading up to my dad’s passing and my journey back from the South Pacific were littered with symbols seemingly connected to my dad. Just before he died (while I was away), a tree had been struck by lightning at my house in Florida – in the exact location we were considering putting a guest house for my parents and other visitors. My laptop computer unexpectedly stopped working, according to the last successful ping by Find My Mac, at 7:33 am the day he passed – it was as though my dad was telling me to take a break from work. In PA a few days after he passed, the local classical music radio station played Recuerdos del Alhambra by Francisco Tarrega – a piece my dad had mastered on the guitar; and also Rondo in C, K373 by Mozart – one of the first “non-Suzuki” violin pieces I learned. Other incidents reminded me of my parents’ relationship with each other. I had read David Chang’s memoir, Eat a Peach, on the plane ride, in which he discussed the yin and yang of cooking flavors – certain dishes only work because one component is too salty, and the other is too bland – in combination, they provide a perfect balance, but cannot exist on their own. A similar concept of yin and yang was described by Gerry Lopez in a Patagonia surf documentary I watched on the plane ride home – he described finding freedom in being calm, still, and at peace while riding incredibly turbulent and dangerous waves. These reminded me of the yin and yang of my mom and dad – my dad’s incredibly calm, steady presence and my mom’s excitable, frenetic energy (from whom I have learned how to act quickly) – both incredibly positive, supportive, and nurturing in their own way, but each enhanced by the other. The whole way back home, I wondered how this balance would now change. What I have now realized over the past week is that the balance my dad brought to our lives has only become more permanent and lasting with his passing. We have found ourselves thinking about all the things my dad would have wanted and stood for and have now acted upon them with more alacrity and respect than we might have when he was alive. As I watch my own son learn and grow, I will always think about my own relationship with my dad, and as strange as it may seem, to trust that my relationship with my dad will keep evolving over time. Many friends have reached out to let me know that my dad will always be with me, and that he will keep teaching me and showing me the way.

We love you so much, Dad – you touched so many people through the way you lived your life, and your lessons will never be forgotten – rest in peace.

定風波

莫聽穿林打葉聲，何妨吟嘯且徐行。

竹杖芒鞋輕勝馬，誰怕？一蓑煙雨任平生。

料峭春風吹酒醒，微冷，山頭斜照卻相迎。

回首向來蕭瑟處，歸去，也無風雨也無晴。

A poem by 蘇軾 (Su Shi, 1037-1101, Northern Song Dynasty)
Used by his college friend, 劉慶聰, to remember Reynold

Translation by Frank C. Yue:

“Calming the Winds and Waves”

Drumming forest leaves, listen not to the rain’s striking song;
Just chant, sing verses, howl and ramble leisurely along.

A pair of straw-sandals, a bamboo cane –
Lighter, better than a horse (with flowing mane).
Why fear?
With straw-cape and straw-hat, through mist and rain,
I'll walk life’s journeys again, and again.

It is Spring but blowing are the winds chill,
My drunkenness is gone, blowing until.
It’s cold –
The Sun, atop the hills, shines slantingly
(In spite of everything), to greet me.

Looking back at where all that had been
And where the dark, the winds and rains begin,
I'll go home –
Non-sentimentally (with a grin),
Now there’s no more wind, rain or shine therein.

MDF is Commited to Improving the Lives of All People Living with Myotonic Dystrophy.

Help change the future of myotonic dystrophy care, research, and support with a contribution to MDF in honor of 王望塵 - Reynold Wantseng Wang. Donate to Community, Care, and a Cure today!

Donate in honor of Reynold Wantseng Wang!

References:

1. A World Without DM
2. Why I Chose DM Research (Or Why DM Research Chose Me).
3. This geneticist’s goal: Cure the disease that runs in his family
4. Wang, E.T. Goals in tension: motivated by genetic disease yet rooted in basic science. Nat Rev Mol Cell Biol 22, 581–582 (2021). https://doi.org/10.1038/s41580-021-00395-1

Community Interview: Glenda Winson, Guillermo Zubillaga, and Jan Jaffe, New York City MDF Support Group Facilitators

Published on Wed, 01/25/2023

In January 2023, MDF's Health Resources Coordinator, Ruth Sheldon, sat down with New York City MDF Support Group Facilitators, Glenda Winson, Guillermo Zubillaga, and Jan Jaffe.

New York City might evoke an image of Times Square buzzing awake at night. Neon signs and digital screens advertise any number of restaurants, brands, and attractions. I remember my first visit to New York City and the way it made me feel so small. There was comfort in the anonymity; seeing hundreds of people simultaneously crossing the street at a busy intersection was thrilling. I imagine, however, there is also a hint of loneliness. There is something about seeing people busily going about their day and feeling outside of it all. Living with myotonic dystrophy (DM) tends to slow everything down; we might process slower, walk more carefully, or speak with more intention. It would be challenging to exist among the fast-paced lifestyle of Manhattan and surrounding boroughs. That is why it is important, especially as a person living with DM, to have support. One place we can seek out that mutual aid is within a support group. And in New York City, look no further, because Glenda, Guillermo, and Jan are the team of cheerleaders you need in the Big Apple.

Glenda has been living with DM2 for 26 years. Glenda became involved with MDF after attending an MDF Annual Conference. She noted that it was a chance email that made her attend, and she was grateful it arrived in her inbox. Her involvement with MDF has continued on since then; this year, she identified a gap in support groups for New York City and offered to cofacilitate a new group with Jan.

The oldest of eleven children, Jan learned about DM and MDF through the diagnosis of her siblings. Unexplainable symptoms experienced by her brother led to a diagnosis of DM and led some other family members to seek testing. DM proved widespread in her family, and Jan reported that four of her siblings have passed away from the disease. Jan contributes to the support group to hold space for others living with DM and provide words of encouragement to those navigating this highly variable disease. These two women are joined by Guillermo.

Originally from Venezuela, Guillermo now lives and works in New York City in public policy and corporate relations. Guillermo's sister began showing signs of DM but was only diagnosed after having affected children. Guillermo researched DM and learned about MDF as a resource for him and his family. Guillermo has significant experience working within nonprofits, as well as moderating conversations, and engaging stakeholders. The self-proclaimed “tech guy”, Guillermo applies his professional expertise to a condition about which he is incredibly passionate.

These three bright and warm souls complement one another beautifully and make up a support team that will make you feel less alone. I was recently listening to an old commencement address given by Maya Angelou in 1983. She was speaking to young college graduates about venturing out in the world. She states, “You are phenomenal… because you come from a phenomenal people... It is wise to remember where you came from... Take everybody on the stage with you all the time. Everyone who has ever loved you… Whenever I have to come up on the stage… whatever I have to do, I take Mamma with me. I know that that’s wise. Take everyone kind and bright on the stage with you” (Angelou, 1983). I think I know that these three will be on my stage.

When I watch the traffic lights change from green to yellow, and I feel like I am moving too slow relative to the world and people around me, I will think of these three. These three people are your people, just like they are now my people. “When you are most frightened, think -immediately- think of some particular teacher… Think of an uncle, an aunt, a grandmother. Think! And pull them to you.” When I worry about slipping on the ice, or the way the cold winter exacerbates my myotonia, I will pull Glenda, Jan, and Guillermo to me. They are eager to engage with you and the DM community, and they hope you will join them for their next meeting! Click here to view all of MDF's upcoming support groups.

Thank you Glenda, Guillermo, and Jan!

Community Interviews: Jodie Howell & Samantha Welsh, Virginia State MDF Support Group Facilitators

Published on Wed, 01/25/2023

In January 2023, MDF's Health Resources Coordinator, Ruth Sheldon, sat down with Virginia State MDF Support Group Facilitators, Jodie Howell & Samantha Welsh.

My kitchen egg timer has become somewhat of a comforting motif throughout these interviews. As I call the new support group facilitators, I spin the timer until the small arrow points at “fifteen”. When I began reaching out to the support group facilitators, I found it important to be mindful of the time being donated; each one of these individuals are volunteering their time and labor. Consciously dedicating hours of their week to support the myotonic dystrophy community, these support group facilitators have decided that they have a higher capacity to contribute. I am quite consistently taken aback by people like Jodie Howell, LPN, CCRP, and Samantha Welsh, who are actively involved in their own communities, but have determined that they have a greater threshold to give.

Jodie has an extensive background in the medical field. Prior to the birth of her sons, Jodie was a nurse, but now she holds the position of Clinical Research Coordinator at Virginia Commonwealth University. Jodie’s professional life has placed her centrally within the community of people affected by neuromuscular disease. She has implemented studies and trials for DM1, and for the last three years has focused on the Myotonic Dystrophy Translational Research Program at Virginia Commonwealth University. Jodie found the Myotonic Dystrophy Foundation (MDF) through her work with Dr. Nicholas Johnson in 2019 and has attended several conferences. Jodie has been committed to the DM community for years and sees the high need for individuals to be represented within their communities, and among those who serve them. Thus, her great passion was what motivated her to take on the responsibility of cofacilitating a support group.

Samantha is similarly qualified, having spent much of her professional life in roles that serve her community. As administrator for a large educational program serving children, youth, and adults, Samantha knows the incredible value of mutual aid. In his late thirties, Samantha’s husband Jay developed adult-onset DM1. Once a physical trainer, Jay is no longer able to work in the field as a result of his symptoms. Samantha and Jay found MDF through support services and the MDF Annual Conference. Motivated by Jay’s incredible attitude, her faith, and her strong community, Samantha has decided to cofacilitate a support group to give back to the community that has so greatly aided her.

Both women have vast professional experience that make them exceedingly qualified to cofacilitate the Virginia area Myotonic Dystrophy Support Group. Members of this support group are privileged to have Jodie and Samantha holding space for the in-depth discussion and encouragement that takes place in their meetings. These two were absolutely lovely to communicate with. I was so eagerly suspended in the conversations that each were abruptly punctuated by my egg timer; the abrasive ringing reminded me of the preciousness of their time.

As I reminisce on each of the exchanges I had with both Jodie and Samantha, I am amused by the way that both involved photographs. Prior to our conversations, the only information I had on these two women were the short paragraphs introducing them on the Myotonic Dystrophy Foundation website. One thing that jumped out at me was Samantha’s reference to her two cats. “Well,” I thought, “I can certainly relate to that!”. As I emailed Samantha to schedule our interview, I attached a few photos of my own cats with hopes that it might help us build rapport (which it did!). Similarly, Jodie and I spoke about the blizzard that recently left nearly a foot of snow on my doorstep. She remarked on the lack of winter precipitation in her region and requested a photo; I happily obliged. Each woman elicited beautiful images of calming entities: cats snuggling on a sofa and quiet mornings with snow blanketing the avenue.

I imagine that the comforting images they brought to our conversations mirror those that they bring to their group. Their unwavering commitment to bettering the world is palpable. They seek connection, and those of us who are lucky enough to cross their paths reap the benefits. Jodie summarized this sentiment beautifully; “Giving a little bit of my time is a small sacrifice to help people find each other. We don't know what is going to show up, but we are there, and we are present… Give each other grace and meet them where they are. Be supportive. That is all we can give and that’s enough”. It is more than enough.

If you find yourself yearning for connection or are seeking encouragement regarding your life with myotonic dystrophy, Jodie and Samantha warmly invite you to attend their support group! Their next meeting will be held virtually (via Zoom) on January 26th at 7:00pm EST. It costs nothing to join, but you are guaranteed to reap the benefits of fellowship and good conversation! Click here to find all of MDF's upcoming support groups.

Thank you Jodie and Samantha!

Community Interview: Peter Ingraham

Published on Thu, 12/15/2022

by Niv Joshi

In 1991, Peter Ingraham was an avid guitarist until he started experiencing weakness in his left index finger. At the time, he had recently completed his master’s degree and was working in Daytona Beach, FL as a computer engineer. After he sought medical attention help for what seemed to be a minor issue with his finger, Peter was diagnosed with myotonic dystrophy type 1 (DM1) at 30 years old.

“I had never heard of myotonic dystrophy before the neurologist diagnosed me with it,” Peter said. He shared the news with his family and his four siblings subsequently tested positive for DM. “I was the first one diagnosed. Probably because I was the first one to have my life affected because of it.”

They determined Peter had inherited the DM gene from his father, whose two siblings had been living with symptoms of the disease. “I had seen my aunt wear leg braces, but her family never told us about DM because we all looked healthy,” Peter shared. His father, who was asymptomatic, lived a healthy life until the age of 79. “He had back problems and cataracts, but those are such common symptoms that can happen to anybody as they age.”

After the diagnosis, Peter continued to lead an active life. That year alone, he: played ice hockey in a local men’s league; played first base for an intra-company softball team; and ran the half-mile leg of the relay-race portion of the “Corporate Cup”, the 5K Catfish Festival Race, and the 4-mile Easter Beach Run. His physical decline has been slow but steady over the years, and despite his efforts, Peter has since lost about 40 lbs.

Peter and his wife-to-be, Lorie, who had been dating for around three years at the time of his diagnosis, married two years later in 1993.

Living in Boston for the first five years of their marriage, Peter’s commute to work involved a subway ride and 3-mile walk, which gradually became more difficult as years passed and his symptoms became more pronounced. By 1997, he started experiencing issues standing without assistance. Looking for support, Peter decided to visit a Muscular Dystrophy Association (MDA) clinic, who recommended the usage of ankle foot orthosis (AFO). Incredibly, these AFO braces helped him walk without extra help for over 20 years!

As their love for each other grew, Peter and Lorie started thinking about the future of their family. Instead of having children with the possibility of inheriting the disease, they decided to adopt. In 2004, they brought home a baby girl from Guatemala, who is now a sophomore in college.

“At 61, I am now fairly disabled. I refer to my inability to do things as tipping points,” Peter said. “I do things until I can’t, like I can’t play guitar anymore, I can’t skate anymore, I can’t drive anymore, and now I can’t walk, so I get around on my scooter these days.”

Lately Peter has been an active advocate for the DM Community and has been involved with a number of Myotonic Dystrophy Foundation support groups. “I want to help out the DM community as much as I can,” Peter said. “I want to volunteer, advance the cause and advance the research.” He has even been involved in clinical trials and studies for myotonic dystrophy, including an antisense pre-trial bio-measures study at the University of Florida in 2014.

Aside from his involvement with the DM community, Peter and Lorie enjoy going to rock concerts. Their recent concerts include Electric Light Orchestra, Elton John, The Eagles, The Doobie Brothers and Santana. Peter has also recently reinvigorated his passion for reading. Science fiction and historical fiction are some of his favorite book genres.

In addition to his love for reading, Peter also enjoys writing. Before his brother and best friend, Bud, passed away in 2019, they were drafting a book together, penning their experiences and stories from when they were growing up in small-town New England. Peter has since finished writing the book and is now collaborating with his wife to edit it.

“My lovely wife Lorie has been with me all the way and is now my personal-care giver, coach and agent. I have a positive attitude thanks to her,” Peter shared. “All things considered, I've been very lucky to have the support of such loving family and friends.”

Community Interview: Sarah Berman

Published on Thu, 12/15/2022

On December 7, 2022, MDF's Health Resources Coordinator, Ruth Sheldon, sat down with longtime volunteer and new MDF Support Group Facilitator, Sarah Berman.

Sarah answered the phone after only one or two rings. Her bright voice almost startled me; it cut through the white noise of my environment and drew me in. I hadn’t the opportunity to say much before she began talking about the snow I had just received. The two feet that accumulated outside my Saint Paul home was both familiar and novel to Sarah. Sarah has lived all over, but her current home in California did not often forecast blizzards. She asked me how I managed the cold temperatures and precipitation with my myotonic dystrophy (DM) symptoms. I responded, “I am often worried about slipping on ice”, while trying to think of a way to turn the conversation back to her. It was immediately obvious to me that she was a good support group facilitator by the way she demonstrated a sincere interest in my experience.

After reading Sarah’s family story on the MDF website, and the blog dedicated to her daughter Zoe’s experiences with congenital myotonic dystrophy (CDM), it was clear that Sarah had a great capacity to engage others. It seems so fitting that Sarah should be the facilitator of the CDM support group. Her curiosity is palpable, and it’s the type of genuine inquisitiveness that makes one feel like the complete center of her focus. Her extensive background in education and teaching may be a partial explanation for this intrinsic interpersonal skillset. Sarah has taught students of all ages but has most recently worked with young children in early childhood education. She is a natural educator, and a natural advocate.

Nowhere is this expertise more apparent than in conversation about her daughter, Zoe. Now fifteen years of age, Zoe was born with CDM and immediately exhibited symptoms. Sarah, who was undiagnosed at the time of Zoe’s birth, was forced to quickly adapt to both her own diagnosis, and the needs of her newborn. Sarah learned to simultaneously navigate the medical system and fiercely fight for her family’s health. Zoe has experienced many health-related challenges throughout her life, and Sarah has been by her side through it all. Sarah has spent countless days in clinics and countless nights in the hospital. As Zoe underwent surgeries, invasive procedures, and barriers to healing, Sarah was there to carry the burden of teaching practitioners about DM and CDM; Sarah was there to sign Zoe up for acting classes; Sarah was there.

And Sarah is still here. She now uses knowledge accumulated over years of trial, error, disillusionment, and victory to help others in the DM community. “I love to be able to give back and share,” Sarah says about facilitating the support group; “I always feel great after group, and I gave what knowledge I have.” Sarah noted in our conversation that many of the support group participants are new to the CDM diagnosis, living with babies and toddlers with the disease. She speaks to the things she found helpful when Zoe was young, including what bottles to use, how to engage in safe “tummy time”, and how to find resources for caregivers.

After hearing all of the ways that Sarah was caring for those in her support group, I was curious as to the ways Sarah cared for herself. I asked her what nourishes her and what keeps her going. She was a fountain of wisdom, but one thing that stuck out to me was this; “I’ve kind of become more like Teflon. I don’t hold grudges or have regrets. I let it flow off of me. There is no time for guilt.” I think this is an excellent sentiment that I will certainly carry with me. We must care about the things that are important and let go of those that are not. We all do the best we can and living with a highly variable disease like DM is tough. Sarah reminded me that it is important to give ourselves grace to make mistakes and learn from them, but also share our lessons with others.

She lives this by example, and the wider DM community is immeasurably grateful that she does. Thank you, Sarah!

Tom McPeek: Staying Positive

Published on Sat, 12/19/2020

Staying Positive

Tom McPeek had been an award-winning dog trainer who loved to go on outings with his Airedale terriers. Once a year, he would drive from his home in Chillicothe, Ohio, to South Dakota to hunt pheasants during day-long trips in which he would hike ten to 12 miles.

Tom doesn’t hunt anymore. He’s had to give up raising dogs as well. After a career working on the human services side of corrections—starting as a juvenile probation officer and most recently serving as a regional director of a halfway house for adult felony offenders—Tom had to retire six years ago because of the progression of his myotonic dystrophy type 2 (DM2). For the past few years Tom has volunteered as the MDF DM2 Support Group Facilitator.

“I had enough physical problems and some cognitive issues that I had to go out on disability,” he said. “I would rather be working right now, but I just didn’t have a choice.”

DM2 tends to have a later onset and is often slower to progress than myotonic dystrophy type 1 (DM1), and it is caused by a mutation of the CNBP gene rather than the DMPK gene that drives DM1.

In retrospect, Tom realizes the disease began to show itself when he was in his teens. He suffered growing pains that never seemed to go away. He was unable to build muscle mass like his peers, or keep up with them in sports. In his twenties, he loved to work on cars, but if he used a screwdriver, he could not release it from his grip. A doctor dismissed such problems as carpal tunnel syndrome.

But in his forties, Tom noticed a significant loss of muscle mass. He had problems training for his annual hunting trip and had to switch to a lighter rifle. He developed intense pain and weakness in his hips and leg. When he talked to people, he sometimes had difficulty finding the words he wanted. By the time he sought a diagnosis, he learned that two of his uncles and an aunt had DM2. In May of 2008, a genetic test and electromyography—a diagnostic procedure to test how well nerves that control movement communicate with the muscle—confirmed what he had suspected.

A New Life Emerges

The family connection may have spared Tom a diagnostic odyssey faced by others. He notes that many people with DM2 may never get diagnosed, as their symptoms can be dismissed as problems associated with aging.

His uncle introduced him to an online myotonic dystrophy group, and then in 2011, convinced Tom and his wife Kim to join him at the 2011 MDF Annual Conference in Clearwater, Florida. There, he met researchers studying the disease and many of the myotonic dystrophy patients he had been communicating with online.

“The information at the conference was wonderful, but being able to meet all of these people who had the same issues that I had—we just fell in love with the people and made dear friends,” said Tom, who noted he learned about treatment options from the experiences of others. He also welcomed the opportunity to sit down with researchers and talk to them in an informal setting. He’s remained an active leader in the MDF community since then.

Becoming an Advocate

Tom said one of his proudest moments came through his participation in the MDF Patient-Focused Drug Development meeting, which was held during the 2016 MDF Annual Conference in Washington, DC. MDF convened the halfday meeting with senior officials from the U.S. Food and Drug Administration (FDA), patients and families, scientists and industry professionals the agency’s understanding of the issues myotonic dystrophy patients face and what they hope to gain from potential therapies.

During a panel presentation that included him and three other people living with DM1, Tom shared his experiences living with DM2, including his daily regimen, which involved taking 21 different pills and two injectable medicines to treat a variety of symptoms related to the disease. This includes treatments for pain, depression, daytime sleepiness, high cholesterol, low testosterone, vitamin D deficiency, and diabetes, as well as treatments to minimize the side effects of drug interactions. He also talked about his use of a BiPAP machine to provide pressurized air while sleeping because of his problem with sleep apnea.

“It would be great if [a future therapy] could somehow reverse any damage that has been done cognitively and to our muscles,” he told the FDA representatives, “but I would be very happy if we could simply stop the progression for now.”

Though his disease continues to progress—he’s had to cut his water aerobic workout down to 30 minutes a day from 55 minutes—he tries to remain as active as possible. He calls his wife a “wonderful caretaker” who provides him with support, hope, and confidence while allowing him to do everything within his abilities. He recently went inner tubing on the snow, but admits he paid a price. He suffered pain for a month after that outing before going to a doctor and finding out that what he had dismissed as muscle pain from overexertion was a broken foot caused by a fall during his adventure.

Despite his condition, he considers himself fortunate. He does not use a wheelchair, he doesn’t require oxygen, and his disease progression has been slow. He has no interest in self-pity and encourages others to stay optimistic.

“Don’t let your disease bring you down emotionally,” he said. “Find things that make you happy. Be as positive as you can be about the situation.”

How a Couple that Dreamed of Travel Found a Way Around DM

Published on Fri, 08/14/2020

Edward “Bud” Ingraham was serving as a U.S. Army intelligence officer stationed in Nuremberg, Germany when the Berlin Wall fell in 1989. During the time he and his wife Bethany spent in Europe, they developed a taste for travel. But in 1992, at the age of 32, doctors diagnosed Bud with myotonic dystrophy and the army discharged him.

The couple settled in Hebron, Kentucky, about 30 miles west of Cincinnati. Bud went back to school and earned a bachelor’s degree in computer science and then took a job as a systems analyst for a bank as the couple raised their two sons. He would be exhausted when he arrived home from work and often fell asleep in his chair after dinner, but his disease remained largely in check.

Things changed after a serious bout of food poisoning in 2006 that landed him in an intensive care unit for two days. He began a noticeable decline. Bethany remembers a family trip to San Francisco where Bud struggled with pain in his legs and throughout his body. The couple had long planned to travel extensively once the kids were grown and out of the house, but Bethany realized that this would probably be the last “crazy trip” they would take. By 2009, Bud would be on disability and Bethany, a clinical research nurse, would be the breadwinner.

A New Way to Travel

As Bethany was helping move her youngest son to Arizona, she had an idea. Traveling across the country, she had noticed several RVs on the road. If she could somehow manage to drive one of those hulking vehicles, perhaps she and Bud could travel as they had planned.

When she returned home, she visited a local RV dealership and took a test drive. Bud’s vision had weakened to the point where he was no longer able to drive, so she would have to be the one behind the wheel. “It was a little scary,” she said “it’s a big piece of equipment!”

Nevertheless, she learned to relax in the driver’s seat as the couple upgraded from their first 28-foot RV, to a 32-foot RV with all the comforts of home. It has a king size bed, bathroom with a shower, couch, reclining chair, table that seats four, and three television sets. A newly added lift system made it easier for Bud to get in and out using his wheelchair. Bethany laughed as she noted the RV cost more than their first house.

In the first two years of RV ownership, the couple traveled about 20,000 miles. From April through November, she said, they tried to take at least one trip a month. “Our philosophy is that if we own this, we’ve got to go,” Bethany said.

Ready to Roam

As loyal baseball fans—Bethany for the Cincinnati Reds and Bud for the Boston Red Sox—they liked to make their way to ballparks around the country. They’ve been to Fenway Park in Boston, Miller Park in Milwaukee, Three Rivers Stadium in Pittsburgh, and of course to the Great American Ball Park to see the Cincinnati Reds.

As they planned, in July of 2018, the two made a trek to up Canada in their accessible RV. They visited several ballparks along the way, and toured the Canadian countryside. In January 2019, they also celebrated the opening of a friend’s Brewery in Cincinnati, OH. For shorter weekend trips, they enjoyed traveling the Kentucky Bourbon Trail and visiting distilleries in the region.

The RV allowed the couple to fulfill their dreams of travel. It got Bud out of the house, picked up his spirits, and was liberating for the two of them. And it allowed them to visit their sons in Arizona and Alabama.

When not on the road, Bethany shared that she looks at RVs longingly when passing them. “I love it. I absolutely love it,” she says. “I drive to Louisville for work sometimes and I see the RVs on the road, and I am jealous because I cannot get in my RV and go. When I retire, they may never see me at home again because I’ll be traveling all the time.

The End of an Era

In the summer of 2020 Bethany shared a sad update to their story: on March 16, 2019 Bud passed away in the comfort of his own home. He did not have a chance to see his youngest son get engaged in March 2020, nor will Bud be there for his son's wedding in September of 2021, yet Bethany is grateful for the incredible adventures they shared, the love they had, and the freedom the RV gave them. She continues to find comfort in her family and friends and holds her happy memories close.

Lucie Griffiths: Community Moderator Q&A

Published on Fri, 07/17/2020

What is your relationship to DM? Are you affected and if so, what kind (DM1 v DM2) and when were you diagnosed? Do you have family members who are affected?

I was diagnosed with Myotonic Dystrophy Type 2 in 2018. It all started with the birth of my first (and only) child in 2007 at age 26. I had noticed that my arms hurt constantly holding my newborn child, which then progressed to grip myotonia. At that time, there was no previous family history and for many years my doctor thought I had an autoimmune disease. It was when my Myotonia, muscle cramps and intense fatigue became a constant and daily battle that I sought out a private neurologist whom specialized in neuromuscular diseases. I had read about myotonic dystrophy on the internet and felt sure I needed to be tested. Many months later, genetic testing proved I had DM2. Since my own diagnosis, my father has also been diagnosed.

Did you start the ‘Myotonic Dystrophy Support and Information’ FB group? If so, when did you start it? Or how long have you been the administrator/moderator?

No, I did not start the page but have been a member since 2014. I became one of the administrator/moderators in 2019 as I wanted to be able to help share accurate information and support others.

How many group members does the FB group have and what countries are the members from?

The group currently has 4,100 members and we are adding on average 20 new members every week. The group has members from all over the world. I live in Australia.

What are the most popular topics that the group members post about? Do you see certain topics/questions repeated often?

I would say that the most common questions appear to be around how to go about getting tested, the actual specifics around how Myotonic Dystrophy is inherited and what medications there are to help.

What is the best advice that you can give to someone who is newly diagnosed with DM?

My advice would be firstly, to allow yourself time to grieve; It’s quite a shock to be told you have a progressive muscle disease. Secondly I would say read, read, read and then go back and read some more. This condition is rare and most doctors have never heard of it. You must be your own advocate and learn all you can about the disease in order to educate those around you.

What have you learned from moderating/managing the Facebook group and what do you hope the online/FB DM community will look like in 5-10 years?

I’ve learned that education and research must be ongoing, there’s still so much about Myotonic Dystrophy that is unknown. I’ve also learned that genetic testing is still not available to a lot of people. I hope that this changes soon so that it will be easier for everyone to achieve, no matter where in the world they live. I hope the DM Facebook community in 5-10 years is still connecting people just as it does now. There’s something so special in being able to “talk” to others who understand the struggles you’re going through.

Find Support

Ready to join the conversation? Join Lucie in the "Myotonic Dystrophy Support and Information" Facebook group.

Looking for other support opportunities? Check out our virtual groups to connect with other community members and their loved ones from all over the world. Share your ideas, experiences, stories, and find support in the DM Community! Find all the Myotonic Dystrophy Foundation support groups here!

A Mother's Story - Elizabeth Florence

Published on Fri, 06/19/2020

Elizabeth Florence lives in Dallas, Texas, with her husband, and two sons, Sam, 18, and Will, 20. Sam was born with congenital myotonic dystrophy. Will does not have the disorder.

"lt's very difficult to be a mother to a child who is different. Sam sometimes uses a wheelchair and he moves slower than other children. On the other hand, I feel very lucky because my husband and I are healthy and we have the energy and ability to take care of Sam and to be there for our other son, Will."

Like many families who are dealing with DM, Liz and her husband received a lot of misinformation from the doctors immediately after Sam's birth.

"Every shift change meant different information from each new staff member. We didn't know what to think," Liz recalls. She and her husband went to the hospital every morning and stayed with Sam all day. "One day, when Sam was about three weeks old, the neonatologist told us Sam would have a very short life span -- until about the age of two -- and that he'd then die. Initially, we were devastated, depressed and in despair."

The next day another, more experienced neonatologist told them the truth: that each manifestation of myotonic dystrophy (DM) is very individual; that Sam could end up being very normal or that he could have cognitive delays. Since DM affects each patient differently, Liz and her husband were desperate to understand more about the disease and how it might take shape for Sam. A doctor told them that they should not use the internet to learn about DM because many sites focus on the most dire situations; the Myotonic website is an obvious exception, but didn't exist at the time. Instead they talked to every doctor they could about the disease. Once they began to understand more about the realities of DM, they started to have more hope for Sam's future.

Since those initial months and years, Sam has grown into a charming and delightful child. He and his brother are very close and have a wonderful, supportive relationship. "God gave us Will because he knew Sam was coming," Liz says of her older son. "He is empathetic, kind, inclusive, and chooses his friends based on whether they are nice to Sam. They truly adore each other, and for that we feel so lucky."

That lucky feeling and the belief that life is more than simply what's handed to you, that it is what you make of it, propelled Liz and her husband to organize the 2011 Sam's Squad Run, a fundraiser that utilized the annual Dallas White Rock Marathon as a springboard for their own efforts to raise money. "We decided that we needed to help the research effort somehow, and once again, we got lucky," said Liz.

Their initial goal was to raise $25,000. With no plan and no volunteers or runners, they began the work necessary to have a successful fundraiser. Their friends, family and contacts in the Dallas area came through with an overwhelming response. The Sam's Squad Run had 150 runners and 100 volunteers at Sam's Squad water stations, despite the 40-degree temperature and the downpour of rain. "It was so exciting. We had an anonymous donor who matched our $25,000, and within six months of the race, we'd raised $107,000 for Myotonic."

"It was an amazing experience to be able to organize something like this," said Liz. "It made talking about Sam's condition easier and it was an incredible exercise in getting and staying organized. The success of this fundraiser also got me more connected to Myotonic, and now I have a more active role in the organization. Most importantly, this fundraiser has led to other opportunities that continue to allow me to contribute and really make a difference long-term."

Liz continues to give back to the myotonic dystrophy community by serving on Myotonic’s Board of Directors as Secretary.

The second Sam's Squad Run was organized for the 2013 Dallas Marathon. Although the marathon was cancelled because of an ice and snow storm, their friends and family were still able to raise over $30,000!

In 2017, Will organized a 5K run for his senior leadership project at school. After seeing the success of his family's previous fundraisers, Will was inspired to achieve the same kind of profound impact. Runners, joggers, and walkers of all ages raised another $15,000 for Myotonic at the 5K run and 1K walk at the Parish Episcopal School in Dallas, Texas.

Now in 2020, Sam is 18 and Will is 20. Sam has continued to blossom into a delightful young man who brings joy to everyone he comes in contact with. He and Will remain very close and have a wonderful, supportive relationship. Sam also benefits from having empathetic friends, and an extremely caring extended family with grandparents, aunts, uncles, and cousins who love him infinitely.

The Herbert Family's Journey

Published on Tue, 05/05/2020

In 2005, David Herbert learned he had myotonic dystrophy (DM), following a cascade of DM diagnoses through his extended family. It began with a cousin who was tested after experiencing symptoms. Then another cousin decided to get tested, and to test her sons - who were all found to have the disease.

So David, his mother and his four siblings all decided to get tested together at the Mayo Clinic in Rochester, Minnesota, where David had been a senior administrator for more than a decade.

David, his mother, and two of his siblings tested positive. "It became a topic within our family," says David, who had reached his fifties without experiencing any symptoms of DM other than cataracts. "What does this mean? I’d never heard of this disease. I think that’s a fairly common situation for people who find out they have myotonic dystrophy. It becomes a journey of awareness and education."

A decade later, David had learned a lot about DM, and he joined the Myotonic Board of Directors, bringing experience and skills learned in a lifetime of leadership in healthcare organizations.

"Should We Test the Girls?"

After learning he had DM, David and his wife, Mary, were faced with a question: should they test their daughters, Greta and Lily, who were then in their mid-teens? On the one hand, it would be good to know if the relatively mild symptoms the girls were experiencing - fatigue, grip changes, some gastrointestinal symptoms - might be due to DM. But the couple also worried about a possible DM diagnosis showing up on the girls' medical records, and what that could mean for insurance coverage, for example.

"In the end, we felt it was worthwhile to proceed, to help us understand all the issues and help them be healthy," David recalls. "We also thought it was quite possible that one or both girls eventually might want to start a family of their own, and that when they did - probably within the next ten years - we would want them to be tested for sure. Why not do it now, so we could have that knowledge?"

The geneticist who tested the girls assured David that they were not likely to have more than David’s own relatively small number of CTG triplicate repeats, a genetic marker which provides a rough measure of potential severity for DM1. In fact, it is now known that repeats tend to increase with each generation, through a process known as anticipation, and Greta and Lily were found to have ten times the number of repeats David has. "That was very sobering information," David says. "In a way, it was great that we got them tested, because it turned out to be a higher level of disease, making it much more likely there could be serious challenges ahead."

A Baby to Come?

15 years after David and his daughters were diagnosed with DM he remains asymptomatic, while Greta and Lily have both experienced gradual progression of their symptoms. Both women have experienced muscle weakness and GI issues. Greta has been particularly affected by fatigue, and Lily by joint pain. Both daughters are tested yearly to detect the emergence of possible cardiac complications. Still, both women are able to work.

Lily and her husband, Steve, who married in 2011, wanted to have children and chose to use a version of in vitro fertilization during which embryos are genetically screened for DM before implantation. "It’s a laborious process," David says, "but the other route is just to gamble and see what happens. I think Lily has respect for this disease and thought it would be better for her children not to have it if possible."

David and Mary were also concerned that a pregnancy could worsen Lily’s DM symptoms. "It’s a fairly big load on your body, even for healthy people," he says. "We were worried but we were helped immensely by the information available from Myotonic."

"The IVD route is not easy nor is it always successful," David said, "but we now have two beautiful granddaughters, Sophia, now 4, and Rylee, 2, and both are DM free."

Finding More Time to Work on DM

David Herbert’s long tenure at the Mayo Clinic was focused on business development, technology, partnerships, and new ventures. In late 2014, David retired from the giant medical system, in part to begin his own new business venture, but also to devote more time applying his experience and skills to DM.

"I was so busy in my job, and I wanted to have time to focus on what was really important," David says, "and I felt more and more that helping with myotonic dystrophy is important. There’s a lot of work that needs to be done."

One initiative David helped launch was a database study at Mayo and Optum Labs to learn more about what he calls the "burdens" of DM - the economic, social and other costs associated with the disease. Understanding these burdens is crucial to getting businesses and governments working toward a cure, he believes, "whether it’s helping a drug company understand the drivers of the disease or helping insurers and the government know more about cost-benefit issues when looking at reimbursement."

He also supports Myotonic’s efforts to get young scientists involved in DM research, and to create patient registries so that drug companies have information critical to clinical trial development.

"The work is energizing for me," David says. "Since we’re affected by this disease - with our kids and all - we want to do everything we can to move toward solutions. It’s very gratifying to me to be able to help."

Sophia, now 4 years old.

Rylee, now 2 years old.