Helping Family and Beyond

Julia Thorsness’ husband Jim was diagnosed with myotonic dystrophy type 1 at the age of 40. As his health worsened, his mobility suffered, and he retired early from his job working with the state of Alaska leasing land for rural airports.

Julia continuing working full-time, but also served as a caregiver to her husband until his death at 59. But after retiring in June, Julia decided to put her professional and personal experience to work to help DM patients and caregivers by organizing a support group in Alaska.

“You try to think how you can encourage others. We didn’t know other families that were living with myotonic dystrophy,” said Julia. “I’m not sure I would have had the energy to join a support group, but knowing others were there and being able to connect via email would have been very nice.”

Julia knows what it’s like to try to balance work and caregiving, how to become educated about the disease and its symptoms, and how to lend a supportive ear. Even though she lost her husband, her connection to the disease continues as her son Timothy, who is 30, was diagnosed about ten years ago with DM1. Her daughter Becky, 34, has not been tested, but shows no sign of having the disease.

Connecting Alaska to Create Support

Julia has been working with MDF to connect with people in Alaska who have the disease to gauge their interest in participating in a support group and determine how to best structure it. Based on the prevalence of the disease and the population of the state, there may be an estimated 100 people throughout Alaska with myotonic dystrophy. Julia has been in touch with five people so far.

About half of the state’s population lives in Anchorage, but Alaska is large, and its population is geographically dispersed. The expectation is that meetings will be held over the phone or online, and then face-to-face meetings could be convened three or four times a year depending on the interest of participants.“

You are so busy balancing caregiving and living with myotonic dystrophy, that making meetings a priority is difficult,” said Julia. “For right now, it seems email is working the best.”

Educating Alaskan Clinicians

Julia said among the biggest issues people with DM in Alaska face is access to doctors who are experienced with treating the condition, or at least willing to learn about the disease and care guidelines for treating patients. The Muscular Dystrophy Association at one time had a clinic in Anchorage, but that no longer exists, and the loss of the clinic has made access to physicians who are experienced in the disease challenging. Julia attends conferences in the state to make general practitioners in Alaska aware of care guidelines for the condition and distributes them to the doctors she meets.

Asked whether her husband Jim had offered their son any advice about living with DM, she said his biggest piece of advice was “to live to your fullest.” “Don’t let it define you,” said Julia. “For so many families the caregiving is overwhelming because of the complications and symptoms. That was not our reality.”

Remembering Self-Care

Julia’s own advice to caregivers is find balance in their own lives. “Be good to yourself and know that you are doing the very best you can at that time,” she said. “I think we all have a tendency to have high expectations of what we should be able to do, and reality is that you do the very best that you can.”
 

Mom Makes the Diagnosis

When Luke Bolt was 13, he noticed his hands would lock in contraction with use and were weakening. When his mother Jodie, a neurologist, heard about the problem, myotonic dystrophy was on the top of her list of possibilities.

Despite Luke's diagnosis with DM1, and subsequent diagnosis for other family members, they pursue an ambitious athletic agenda, understanding the benefits of exercise and conditioning to combat the DM process. Steve, who is an anesthesiologist, was a competitive swimmer at Ohio State University. Jodie is top-ranked All-American duathlete and has been a national champion in her age group for the past three years. She competes in international competitions that combine running and biking, and Luke is following in his mother's footsteps.

Like Mother (and Dad), Like Son

Luke and Jodie both competed in the 2019 Duathlon National Championships USA in Greenville, South Carolina in April. Both completed the race and qualified for the World Championships in Amsterdam in 2020!

Luke, Jodie, and Steve will all be riding together for the 40th Annual Kaiser Permanente Seattle to Portland Bike Ride July 13 and 14, 2019. The trio are hoping to use the ride to raise $10,000 for MDF. The event is the largest multi-day bicycle event in the Northwest and is expected to attract as many as 8,000 participants.

Though Jodie and Steve are veterans of the event, it will be the first time that Luke, who is 18, will be riding. The family has not yet decided whether it will seek to complete the ride in one day or two.

“Luke has not done it before, so it’s going to be a big challenge for him,” said Jodie. “We’re a highly athletic family overall. Luke loves to ride his bike and he’s trained hard all year round.”

The ride begins at the University of Washington in Seattle. Much of the ride takes place along rolling, rural roads, although riders must confront a mile-long, seven percent grade at the 45-mile mark known as the “Big Hill.” There’s also a 15-mile stretch around the halfway mark that consists of small, rolling hills. The course takes riders across the Longview Bridge over the Columbia River and into Oregon. The finish line is in Portland’s Holladay Park, 206 miles from the start.

Luke is not new to competitive sports. For four years he was on his high school bowling team and rolled in the state championships. He averages 185 but threw a perfect game in a recent practice. Nevertheless, the bike ride is sure to test his physical abilities.

Luke says his stamina is pretty good. In the fall of 2017, he completed a 100-mile bike ride. He also ran for four years on his high school’s cross-country team. “He wasn’t the fastest guy on the block, but he was out there trying,” said Jodie. “We have been doing a lot of biking and gotten in to duathlons. And Luke has decided in the last couple of years that that is a really fun thing for him.”

Finding Support and Resources on the MDF Website

Though Jodie was familiar with MDF through her work as a neurologist, it was only after her son and husband were diagnosed with DM1 that she spent extended time exploring the resources the organization offers. Jodie noted, "I look forward to becoming more involved with MDF, and we thought 'what a great [opportunity] to dovetail this goal of Luke’s to get through that distance with a possible fundraising effort'."

“I didn’t initially pour over the material and every inch of the website as I have since these two guys were diagnosed,” said Jodie. “[MDF's] resources for patients and families are phenomenal.”

You Can Always Count on Mom

Luke said he expects to pursue a degree in exercise science when he begins college next year. After he narrowed his choices down to a handful of schools, Luke finally made the decision to attend George Fox University in Newberg, Oregon. And having a mother who’s a neurologist provides a good bit of support. “It’s definitely helpful. If I have any questions about anything related to the disease, I can go directly to her and ask about it,” he said. “She also gives me helpful or interesting tips about what to do or what not to do and what to look for.”

Help Luke, Jodie, and Steve fund Care and a Cure for myotonic dystrophy!

It was more than five years ago when Jeremy Kleiber went to check on a friend who wasn’t answering his phone. He discovered his friend’s body with the man’s three-year-old daughter on his chest, crying for him to wake up.

It was a life-changing event for Jeremy, whose friend had died of an overdose from oxycodone, which he used to treat his chronic back pain as a result of an injury.

Jeremy, who has myotonic dystrophy type 2, suffered from chronic pain too. He took more than 500 pills a month, including oxycodone, the muscle-relaxer Flexeril, and the antianxiety medication Xanax.

“I was on a cocktail that basically made me a zombie,” he said.

But after finding his friend dead, Jeremy became determined to end his own use of prescription pain medication. He started a low-acidic diet and began using marijuana. At the time, marijuana was illegal in his home state of Florida, but the use of medical marijuana has since been legalized in the state.

A Call for Research

Jeremy, 43, said he has now freed himself from prescription pain pills. He notes that he no longer sits around in a stupor and has become more physically active. Jeremy is embarking on a bike ride to the Florida capital in an effort to raise awareness about DM and get the state of Florida to direct money it collects in registration fees from medical marijuana toward research into the benefits marijuana could provide to people neuromuscular diseases. The state is expected to address modifications to the rules around medical marijuana use next month.

Jeremy plans on making the trip from his home in St. Augustine to the state capital of Tallahassee in time for the start of the new legislative session, which begins March 5. The trip is a little more than 200 miles.

Despite the limitations from his disease, Jeremy is able to ride up to 50 miles a day and expects to make the trip in four to five days. He’ll be riding a Catrike Expedition, a three-wheel bike that sits about four inches off the ground. He’ll carry his gear, myotonic dystrophy bracelets, and literature from MDF in a small trailer connected to his bike.

Jeremy, who helped to get Florida’s medical marijuana passed in 2016, said only a small portion of the estimated $21 million the state collects today is used to fund medical research. The $75 annual fee patients are required to pay for annual registration is used to administer the program or goes to the state’s general fund.

As friends learned about his plans, they have become sponsors for his ride. He’s also raffling off two collectible Harley Davidson motorcycles donated by friends who own one of the oldest Harley dealerships in the country to help fund the trip. Any money he raises beyond what he needs for the ride he plans on donating to MDF.

Bigger Plans

Jeremy will be chronicling his ride on his blog “Misadventures of the Myotonic Maniac.” Longer term, he hopes to launch a foundation to fund research to study muscle atrophy and the prevention of it with cannabinoids. He’s also planning a more ambitious ride later.

He hopes to ride from his home in Florida to Washington, D.C. He’d like to see the federal government change the classification of marijuana as a schedule 1 substance (which means it has no accepted medical use and high potential for abuse) to make it easier for universities to conduct research.

“I didn’t ride a bike before I used marijuana. I had pretty much given up on exercise,” he said. “All I did was lie around. Now I’ve got a positive outlook.”

A Neuroscientist’s Family Gets a Neuromuscular Disease Diagnosis

When Suzanne Perkins’ 16-year-old daughter Eliza had trouble opening jars and closing car doors, she took the teenager to the doctor confident she would pin the problem on too much texting.

But when her doctor sent her to a neurologist, Eliza’s diagnosis came quickly and with a wallop.

Eliza had myotonic dystrophy type 1. Even though Suzanne is a neuroscientist, it was the first time she had ever heard of the condition. “It was a bit of a shock to find out it was something serious,” she said.

Now an 18-year-old freshman at Hampshire College in Amherst, Massachusetts, Eliza is far from her home in Ann Arbor, Michigan. When mother and daughter met with a special education counselor at the college before the semester began, it dawned on Suzanne that Eliza might have to contend with DM-related health issues, and having her attending a college at such a distance could be a problem.

Suzanne sought out emotional support and information from other DM caregivers and patients. During a trip to Indiana she was able to attend a DM support group, but there were no similar groups near her home. The closest one was in Ohio, too far away for her to attend meetings regularly. Since she didn’t have a local group, Suzanne decided to establish one herself.

Stepping Up: Launching a Support Group

For Suzanne, though, organizing the meeting was a way to give back to the MDF community and to connect with caregivers and patients in her area. She had attended the past two MDF Annual Conferences in San Francisco and Nashville and found the events interesting and inspiring. She wanted to learn about the current state of research into the condition, what was being done to develop a treatment or cure, and what she could be doing to help.

Back in Michigan, Suzanne wanted to continue to connect with others in the DM community and learn from them. But she didn’t know any caregivers or DM patients back home.

“It helps knowing there are other people struggling with the same issues,” she said. “It’s hard not having any connection with anyone else having the condition.”

In October, Suzanne held the first meeting of her DM support group at the Westgate Public library in Ann Arbor. The meeting she had attended in Indiana was held during a storm and turnout was low, so she didn’t expect many attendees for her first meeting. MDF promoted the meeting on its website, Facebook page and monthly newsletter, and the local Muscular Dystrophy Association office also promoted the event.

Filling a Need in Michigan

The first meeting was a success, and 18 people showed up. One attendee had travelled an hour from Toledo, Ohio, and another travelled nearly two hours from Kalamazoo, Michigan to participate. For much of this first gathering participants shared their personal stories. Suzanne had expected to hold meetings every other month, but because of demand among attendees, she now plans to convene meetings monthly.

When she decided to organize a support group she was a little nervous about the tone it might take. Someone had suggested to her that support groups can take on negative qualities as some people view them as a time for them to complain. But that wasn’t the case. She said everyone was very positive, excited to be there, and appreciative there was a meeting to attend.

Suzanne isn’t sure if Eliza will attend when she’s home on break from college. “She wasn’t keen on being in it. She’s living her life and moving on ahead,” she said. “She might come and be a part of it later on.”

Helping Herself by Helping Others

Suzanne, who is getting to know a disease that has highly variable in the way if affects people, has learned from others who have been living with it longer than her daughter has. The first time she saw people with DM, she remembers how sick they seemed and feared that she was glimpsing her own daughter’s future. But meeting a variety of patients, some much older than her daughter who appear to be managing the condition well, she has come to see the breadth of the possibilities. It’s now a little easier for her to say that she doesn’t know what’s going to happen to Eliza and what the outcomes will be in the future.

Suzanne said setting up the group didn’t take a lot of effort, other than learning that she needs to book a room at the library well ahead of time. She credits MDF Program Director Leah Hellerstein with help getting the word out and providing ideas on issues to cover during the meeting. She encourages anyone else thinking of setting up a group near where they live to do so. Contact MDF at info@myotonic.org or by phone at 415-800-7777 for more information.

“There are a lot more people out there,” she said. “I think it’s a really good thing to do.”

A Family Resemblance

As Matthew Brown listened to his cousin Emily describe the symptoms that led to doctors diagnosing her with having multiple sclerosis, he grew concerned. The problems she described—an inability to relax her hand, a freezing of her tongue that made it impossible to talk at times, and gastrointestinal issues—were the same ones he had been experiencing.

Without telling family members, Matthew, who like Emily was 27-years-old, saw his doctor. He was told he appeared to have a neurological disorder and needed to see a specialist to determine what was wrong. When he faced a three-month wait for an appointment in the San Francisco Bay Area, he told his mother Martha Montag Brown what was happening.

Martha, who owns her own executive search practice focusing on foundations and nonprofits, had her son come home to La Cañada, California, about 15 miles north of Los Angeles. She arranged for him to see Dr. Lawrence Piro, who the family knew well. Though Dr. Piro is an oncologist and internist, he ordered and performed a series of tests that led him to tell Matthew he didn’t have MS, but that he did have a neurological disorder. Dr. Piro arranged for Matthew to see a neurologist that same day , who tentatively diagnosed him with the progressive genetic disorder myotonic dystrophy As a result, Dr. Piro arranged for Matthew to see Dr. John Baloh – a top neuromuscular specialist at Cedars-Sinai. Dr. Baloh confirmed the diagnosis, and ordered a genetic test which later confirmed that Matthew had adult onset Type I.

The Search for Answers

The diagnosis had a few unexpected results. It led to new tests for his cousin Emily, who turned out had been misdiagnosed with MS and instead had myotonic dystrophy like Matthew. And, though Martha had not heard of myotonic dystrophy prior to her son’s diagnosis in January 2017, her search for information led her to the work of MDF and the discovery that heading the organization was Molly White, a former colleague she had known for more than 25 years, but with whom she had lost touch.

When the two connected by phone, Martha explained that it wasn’t a recruitment call, but that she was reaching out because of her son’s diagnosis. Martha brought a new-found passion for myotonic dystrophy, a deep history of working with foundations, and a track record serving on nonprofits boards, and Molly saw an opportunity.

A Recruiter Gets Recruited

She helped Martha get answers to questions, offered her thoughts on where she could put her energy to work, and would eventually recruit her to join the MDF Board of Directors. In September 2017, Martha attended her first MDF board meeting.

“This is my number one priority. I will do anything with every shred of my time,” Martha said “I was thrilled to be asked to serve. My husband and other kids, all of us, want to do anything we can.”

Martha not only brings her passion to her role as an MDF board member, but a deep experience working for and with philanthropies, foundations, and nonprofits. As founder and head of Martha Montag Brown & Associates, she has advised a wide range of organizations, from some of the world's most recognized corporate philanthropic and socially responsible brands to start-up foundations and family philanthropic organizations. Prior to starting her own executive search firm, she served as executive director of the Levi Strauss Foundation and Director of Community Affairs group.

She received her undergraduate degree from Georgetown University, where she currently serves as an emerita member of its Board of Regents. She has served on many non-profit boards.

When she first spoke to Molly, Martha asked her how she and her family could help. She was unable to just sit by while her son and niece had DM1. She was told there was no cure and no treatment, and that there was much about the disease that was not known or understood. “I said to Molly, ‘Let us know how we can help. We will give. We will raise money. I will knock on any door,’” she said. “‘I will do anything.’”

Making a Difference

The family went to work. Since that first conversation with Molly, Martha and her family and friends have become active supporters of MDF, funded fellowships and research, and gotten involved in a public advocacy campaign to get myotonic dystrophy included on the list of diseases eligible for Peer-Reviewed Medical Research Programs funded by the Department of Defense.

The family also attended the 2017 MDF Annual Conference in San Francisco, CA and had a chance to meet with patients and experts. Martha was overwhelmed by how supportive the patient community, the MDF staff, and board all were.

“I’ve never been involved in anything as important to me as this is,” said Martha. “I feel hopeful there’s an opportunity to make a positive contribution because this is a moment in time when there are a lot of things on the horizon that can lead to improved care and ultimately a cure.”

When Susannah Savitsky of Parrish, Florida, attended her first MDF Annual Conference she had no idea that it might help save her mother’s life. "I just kind of happened upon it, and I thought it would be interesting," says Susannah, who attended with her father and mother. Susannah’s mother has myotonic dystrophy type 1 (DM1).

An anesthesiologist who spoke at the conference "gave a lot of good information about anesthesia and its effects on people with myotonic dystrophy," she said. "He actually gave out his cell phone number and said, 'If you ever have a question or your doctors have a question, you can call me.'"

That proved fortuitous, as Susannah’s mother ended up needing several surgeries. "My dad actually reached out to him [Dr. Neal Campbell] because my mom was having surgery, and the local hospital had questions about it. He was very helpful." (Access the DM Anesthesia Guidelines.) 

Finding Support

Susannah is a 48-year-old entrepreneur with her own real estate law practice. She also has two teenagers that keep her busy at home, and she helps care for her mother. Susannah also has DM1.

She follows the MDF Facebook page and belongs to two MDF online support groups, one for patients and one for caregivers, now that she has become involved in caring for her mother, who is disabled from advanced DM1.

She is busy juggling so much that she often can’t tell if her fatigue is normal for her situation or a symptom of the DM. "So much of what I see as symptoms of DM at this point in my life can be confusing. Is it DM or is it just aging? Is the daytime sleepiness because I’m just being a bum and sitting on the couch, or is it that my body is tired from the disease?"

MDF, she says, has been a great resource for her. "It’s really nice to be able to share and bounce things off each other, to ask, ‘Is this part of the disease?’ or ‘Does anybody else have this burning sensation in their legs?’ or ‘Has anybody tried this medication?’

She says, "There isn’t always information when you go to your regular doctor, so it’s good to have that to help you fill in some of the blanks."

Understanding CDM

Susannah says she wishes the DM community had been as fully developed as it is now back in 1998 when she was pregnant with her first baby. 

"We were under the impression that the type of DM that was in our family—the adult-onset form—would be the one to affect any children we might have, and that by the time they got to the age where it might affect them, there would be a lot of resources, if not a cure."

But no one had told Susannah and her husband, Jamy, that there was a serious, congenital-onset form of DM1 (CDM), that her baby could be born with it, and that a baby at risk for CDM should be delivered in a medical center equipped for high-risk births.

"I honestly didn’t even know there was such a thing," Susannah recalls. Fortunately, Logan was born without complications and turned out not to have the DM1 genetic mutation. 

When she learned she was pregnant again in 2000, Susannah and Jamy decided to do prenatal testing to see if the baby was affected and, if so, to go to a major medical center for specialized care. Fortunately, that proved unnecessary, as baby Serena, like her brother, was unaffected by DM1.
 
"I was lucky it all worked out for me," Susannah says, "but I was pretty angry at the doctors for not explaining why this was important."

These days, she says, there’s so much information available on the web and at conferences through groups like MDF that people can much more easily learn what they need to know. Learn more about myotonic dystrophy and family planning.

Helping Others

"I try to be supportive when people are having a bad day or need to vent," Susannah says of her participation in online MDF support groups. Recently, through the caregiver group, she reconnected with a long-lost friend of the family who lives in Tampa. And she’s reached out to support newcomers. 

"The other day, somebody posted on the caregiver page that they were new to the group and lived on the east coast of Florida. I logged in and said, ‘I’m on the west coast. If you ever want to talk, I’m two hours away, so I’m relatively local.’"

She has found that the support and knowledge that has come from her participation in the MDF community has helped her to connect with people with other disorders, too. 

"I have a good friend whose adult daughter, in her 30s, has something neurological that they haven’t quite narrowed down," she said. "My friend is having trouble understanding her daughter’s decisions and thought patterns. I’ve talked with her about the depression that comes with a [disabling] disease. It’s very frustrating to feel like you’re losing your independence."

Budgeting Energy, Planning Ahead

Susannah says she’s learned to budget her energy by thinking about it this way: "It’s like a bank. You only have so much money in the bank. If you use your energy to climb stairs, that’s energy you may not have for, say, carrying the laundry. Part of this disease is realizing that there are just so many units that you can use of energy, and if you use it for this, you can’t use it for that. So pick and choose your battles. I can hire somebody to mop my floors and clean my bathrooms, or I can do it, but that ruins my weekend, because I spend the rest of the weekend sore and exhausted. It’s worth it to me to pay somebody else to do that."

She also says planning for the future helps her feel more in control. "Every family’s got something. It might be cancer or heart disease. At least with myotonic dystrophy, we know ahead of time some of what’s in store for us, so we can plan accordingly. When we bought a house, we bought one without stairs because I didn’t want to be doing stairs as I got older. We know what we’re up against, so we can prepare. We need to make sure that we have everything in place."

Read more community stories about members of the MDF community.

Eric's Story

With an upcoming album titled Easy Street and a gold record already under his belt, you might think Eric Hutchinson is kicking back and taking it easy. You’d be wrong. Eric’s new album launches tomorrow, August 26, and he’s using the opportunity to raise awareness about DM and support Care and a Cure by donating a portion of the concert proceeds to MDF.

Eric’s father has DM, and for years Eric lived with fear and uncertainty about his own status. In this very personal essay, Eric shares the most important lesson he learned from his father and discusses his own decision to get a DNA test while recording this latest album.

“I couldn't believe how easy the process was this time! After so many years of struggling to learn the recording studio and suffering to make my music, this new record was a piece of cake. Easy Street. 'I'm producing the new one myself and it's almost unnerving how smoothly the whole thing is going!' I gushed to my friend over dinner one night in New York City. And it all had seemed easy at the time. Or at least, normal. Or at least, normal back then.

I hadn't mentioned to anyone that my relationship with my friend, manager and mentor of 8 years was fracturing and we'd most likely be parting ways soon. And I hadn't mentioned that I'd recently started taking Prozac to help battle a lifelong low-grade depression. And I certainly hadn't told anyone that two weeks earlier I had finally gotten tested to see whether I had inherited myotonic muscular dystrophy. Other than that, I guess the recording process was going smoothly?”

Read Eric’s full story. Watch Eric perform on the Today Show.

More about Eric Hutchinson

Singer, songwriter, performer, producer, DJ - Eric Hutchinson is a constantly-evolving musician, driven by his passion and curiosity for all things musical and creative. His 2008 single “Rock & Roll” earned him his first gold record in the United States. Eric has toured and performed with artists such as Kelly Clarkson, Jason Mraz and OneRepublic, and has appeared on "The Today Show," “The Tonight Show,” “Jimmy Kimmel Live,” and “Conan.” Eric lives in New York City with his wife, Jill and his dog, Elmer.