Myotonic Dystrophy Expert
I did what I could to raise my children normally. But my efforts often failed and that was because I just didn’t have normal children.
In 1998 my husband and all 4 children (3 boys, 1 girl) were diagnosed with Myotonic Dystrophy (DM). The oldest child was 20 and the youngest was 7.
I spent many years, starting in 1998, learning that DM is more than a muscle disease, it affects the whole body and it affects every individual differently— from the floppy (hypotonic) infant, to their unsuspecting grandparent.
DM is often quite devastating, not only because it affects the functions of so many organs and systems in the human body, but also because many people who have this disease can live with it and go undiagnosed with it for years—some estimates guess that as many as 50% of those with this disease remain undiagnosed.
Instead of being treated for the disease, for which there is still no cure, many of those with DM live on the margins of society, unable to hold down a job and struggling with multiple symptoms, all while lacking the basic motivation, energy, and executive brain functions that most of us take for granted and which are necessary to get themselves diagnosed and treated.
At the same time, there are many individuals who have been hunting for answers for decades, only to be told that their symptoms were all in their head. Part of this is because the disease is so extremely variable between people. There are patients who never suspected anything was wrong, going through school, work, and life, until they had an adverse reaction to anesthesia or couldn’t recover their strength after a surgery.
Or, they knew there was a family history of heart disease but did not know that myotonic dystrophy, among all the causes of heart problems, was why a relative’s heart stopped without warning, or that they needed a pacemaker so young.
Now I can say that I am an expert and a determined advocate of those afflicted by DM and have participated in many events including but not limited to:
- Attended the annual MDAASG (Myotonic Dystrophy Assistance and Awareness Support Group), 2003–2006
- Participant in IDMC-5 (International Dystrophia Myotonic Consortium) in Quebec, 2005
- Group Facilitator for Utah MDA Myotonic Dystrophy Support, 2008–2015
- Presenter in the Female Caregivers Meeting MDF Annual Conference, 2017, 2019
- Presenter on the CNS (Central Nervous System) Panel MDF Annual Conference, 2017
- Attended MDF Conference (Myotonic Dystrophy Foundation), 2010, 2011, 2017, 2018, 2019