Finding others with our Rare Disease – Myotonic Dystrophy (DM) has been difficult. That means that having a supportive and understanding community has been hard to find. I’ve been pleasantly surprised that since writing and publishing my book coincidences/serendipities have been happening more frequently.
About a year ago I went to the Post Office to mail my books to a doctor in Quebec. The clerk (let’s call her Maria) was helping me find the right size box to put my books in when she told me that her neighbor’s newborn had just been diagnosed with DM. I asked her to please tell her about me. Maria seemed to be willing. A couple of weeks later I was at the post office and Maria waited on me again. I asked her if she had had a chance to connect with her neighbor. Maria told me that the new mother seemed unwilling to talk about the diagnosis. I told her that avoidant behavior can be a part of this disease and would she be willing to give her neighbor a copy of my book. Maria wouldn’t take a copy of my book but she would think about giving the new mother my e-mail address.
I’m assuming that Maria never new how to connect with this new mother about such a difficult topic. The many nuances of DM make it difficult for those who have no experience with DM to know how to interact with individuals with it. DM is such a complex disease that even after 20+ years of working with my family’s innuendos I am still learning about the ways that it affects this community.
Just last week a DM friend shared with me a link to a conference in Canada. One of the things that it taught me is “Health Literacy is often an issue.” What that means is that the ability of some individuals with DM to take the information from the doctor and apply it can be impaired. That has been my experience with most of my family members. Here’s the link https://www.youtube.com/watch?v=w_8PHD9cbkA&ab_channel=MDC%2FDMC
Another coincidence/serendipity that happened was an interaction that I had with my supervisor at work. I’ll call her Lisa. I was impressed that Lisa took an interest in my book Surviving Myotonic Dystrophy: A Mother’s Struggle to Care for her Family with a Rare Disease and read it when it first came out. She spoke well of my book but we didn’t talk about it after that. Last week I assisted Lisa in a canning demonstration. While riding to the workshop Lisa told me about her cousin that was just diagnosed with Myotonic Dystrophy. Lisa and her cousin have the same grandfather on, Lisa’s mother’s side, who died a sudden death in his fifties. When undiagnosed and untreated that is a great risk with DM due to the way it affects the electricity in the heart.
When Lisa asked her mother if she was going to get tested for DM her mother said that she didn’t think it was very important. Lisa handed her a copy of my book and asked her to read it. Because of the information that Lisa has learned through me she told her mother that if she didn’t get tested that Lisa would get tested. But, if her mother got tested and it came back negative for DM then Lisa wouldn’t need to be tested. Also, there would be more benefit if the mother got tested because if it was negative then Lisa’s other siblings wouldn’t need to be tested. It would be difficult if Lisa’s mother’s test comes back positive but at least they would be informed so that they could be followed by a cardiologist which could prevent more sudden death.
All of these coincidences/serendipities remind me of another chance meeting that I had about 8 years ago at a work conference. I was in a large lecture room listening to the benefits of getting yourself and family members to be physically active. At the end of the presentation I raised my hand and asked if the presenter had any ideas of how to motivate family members who seemed to have no motivation due to a medical diagnosis. I can’t remember how the presenter answered the question but after the workshop another attendee came up and sat by me. She introduced herself as Teresa and said that she had a husband that had no motivation. Teresa wanted to know what I knew about this topic. We chatted and as Teresa spoke she was describing all the same symptoms that my family had. I eventually asked her what her last name was. After she told me I told her about a family that came to our Utah support group that had the same last name. When I told her their name Teresa said that was her husband’s uncle. I was floored and asked if no one had told her that DM ran in their family. She said no and that her husband’s mother wouldn’t talk about the medical history of their family. I told Teresa that there was a strong chance that her husband had DM and I told her how to get in touch with the local MDA neurologist.
Come to find out, Teresa’s husband did have Myotonic Dystrophy and this diagnosed explained so much about the unique life experiences that they had experienced. Her husband was given a pace maker almost immediately upon diagnosis. Teresa interacted with me for a couple of years and even had Kent and me over for dinner at their house. Sadly, her husband died a couple of years later due to choking on his hamburger.
Myotonic Dystrophy is a Rare Disease that occurs in just over one in 2,100 people. But the estimate before genetic markers was about 1 in 8,000. This disparity in numbers shows us how many people go without knowing or understanding about their disorder and its affects. The many misunderstood complexities of DM and the rate of misdiagnosis and un-diagnosis are what motivates me to share my family’s story with as many of you that will listen. Thanks for being a part of my community.