As our community members know, there are two well-characterized types of myotonic dystrophy: DM1 and DM2. They are caused by mutations in different genes, but have many overlapping symptoms. This month, we have a spotlight on DM2.
DM2 has historically been considered to be less common than DM1; however, since the gene mutation for DM2 was identified, research advances indicate that it is likely much more prevalent than originally thought. Nonetheless, DM2 is still not as well understood as DM1 and typically has a longer diagnostic odyssey.
Later in March we’ll be talking with Dr. Matt Disney of the Scripps Research Institute about the DM2 research he’s conducting at his lab. We are starting off our focus on DM2 by sharing a conversation we recently had with Waltraud (Val) Reeber—who is living with DM2—and her husband and caregiver, Bob.
Meet Val and Bob Reeber
Myotonic: Tell us about how you met and your family together?
Bob: I started a Fulbright Senior Research Fellowship at the Technical University in Aachen, Germany in 1972. I met Val at one of the Carnival balls just before Lent. We danced quite a bit that night and the rest is history. We were married in the fall of 1972.
Val: We have four children and have been living in North Carolina now for 33 years.
Myotonic: Val, how did you discover you had DM2?
Val: We got the DM2 diagnosis about five or six years ago after years of misdiagnosis. In 2001, my symptoms became worse and I went to a specialist who diagnosed me with inclusion body myositis. Bob did some research and knew the diagnosis wasn’t right.
Bob: Finally in 2008, Val’s general practitioner suggested she go back to the University of North Carolina Neurology Clinic. Val saw a new doctor who had happened to sit in on a DM seminar by Dr. John Day and he realized Val’s symptoms could be DM. He ordered the genetic test that confirmed Val’s DM2.
Myotonic: What were the symptoms?
Bob: Val showed symptoms as far back as when we were in Aachen nearly 40 years ago. It started with muscle weakness but then it got worse and she started having pain in her arms and legs, balance problems and high frequency hearing loss.
Val: I also have foot drop, due to muscle weakness in my forefoot. I recently took a fall when going down the steps, breaking three bones in my foot. I have trouble with my speech - I mix up consonants which sometimes prevents me from understanding what I’m hearing. When I was younger I multi-tasked well. Accomplishing a task now requires a lot of concentration. If interrupted, I lose my place and sometimes have to restart the whole job. I realize this can also be impacted by age, but others living with DM2 have reported similar experiences.
Myotonic: What are some of the ways you’ve found to manage the symptoms and disease?
Bob: For us, it’s all about teamwork because I was diagnosed in 2000 with a slow-acting lymphoma that, after 12 years of care, is in remission. We take care of each other. We make big meals, some of which we freeze, so we don’t have to cook on the days we aren’t feeling well. We also changed from stick shift to an automatic car to make it easier on Val’s legs. We do some research on our own, because I am a researcher by trade. I realized not long ago that the thyroid medications Val was taking seemed to help with pain management and weakness. I am always reading and seeking out other helpful information to discuss with her doctors.
Myotonic: Have you been in contact with other individuals who are living with DM?
Bob: Yes, last year we met with a DM2 group at the Myotonic Annual Conference in Houston and informally at earlier conferences in Florida and Minnesota. It is helpful to share our experiences, symptoms and information. Interestingly, about seven out of the eleven people in Houston also had hearing loss.
Val: Bob coordinated that DM2 group at the conference. He’s also on a Yahoo DM2 listserve that puts us in contact with others with DM2.
Myotonic: Have other family members been tested?
Val: My oldest brother, who lives in Germany, has DM2. He was diagnosed after me. His doctors wouldn’t test him until I sent him a copy of my labs and then they agreed to do the test. We think a few of my nieces most likely have it as well. Because healthcare is different in Germany, getting tested is not as big of an issue there.
Bob: Our children have not been tested. They are all between 31 and 41 years old and we don’t know if they have it. They didn’t want to get tested because of the insurance situation in the U.S. and their absence of any major symptoms.
Myotonic: How has your quality of life been?
Bob: When Val is feeling okay, we take advantage of that. In the fall we went on a 30-day trip across the country, including a visit to Mt. Rushmore. We visited our children in various states and also saw other family and friends. We took a wheelchair and walker because if Val walks too much, she really feels it the next day.
Val: We visited over 10 states last year and when we arrived home, we got back in the car and drove from South Carolina to Houston for the Myotonic Annual Conference.
Val and Bob are dynamic team. They continue to seek treatment options for Val and enjoy sharing their knowledge and experience with others impacted by DM2 through their listserve Myotonic Muscular Dystrophy 2—PROMM. For more information or to join the listserve, please contact the group at firstname.lastname@example.org.
About the Reeber’s listserve Myotonic Muscular Dystrophy 2—PROMM: International web-based support and advocacy group exclusively for patients diagnosed with Myotonic Dystrophy type 2 (DM2) or PROMM. Participants of this forum must note that participants are not medical professionals. Ideas and discussion in the forum are intended to be educational in nature. For diagnosis and management of DM2, seek a neurologist who specializes in adult neuromuscular diseases.