Challenges and Benefits: A Family’s Experience at the Myotonic Dystrophy Consortium

The International Myotonic Dystrophy Consortium was held in San Francisco last month and while Patient Worthy was not there in person we were fortunate to have a family reporting from the field.
Our mantra– “go to the conference” is important for families so that they can:
  • Hear directly about advancements in research
  • Learn about other medical centers or physicians with an interest in their rare disease
  • Meet others with the same struggles in person
  • Learn of new medications, physical therapy techniques, etc.
  • Get ideas from others on how to access medications and how to manage the mental side

While these are all the “up side” of attending your rare disease conference, there is also a challenging side.

  • Seeing others more debilitated than you are and wondering if that too will be your future
  • Learning of another, unfortunate challenges of your disease that you had previously not known about
In the case of our dear family, both of these occurred. It was difficult for this family with three members affected by myotonic dystrophy to see how much worse they may become. It was difficult to learn, for the first time, that cognitive decline may parallel their physical decline.
Husband and wife looked at each other the moment those words were spoken. There had been a few instances of “forgetting” or “misunderstanding” recently. Had these actually been caused by myotonic dystrophy? 

This led to some serious discussions about work and career and family support. How much longer, if cognitive decline is part of this, can a spouse work? What kinds of care arrangements might be needed? What would the other spouse need to do to get back into the work force? Both of their children are also affected; one a young adult and one a teen. Will there be new developments in time to help them avoid those most debilitating aspects of MD?

With knowledge, planning can take place- but there is no doubt that anxiety, grief, and sadness are a part of the package.
We also know this: like with many rare disorders, there is much about myotonic dystrophy that we don’t know yet. We also do not know the future, and what startling discoveries may yet yield new options. While living in that uncertainty we also live with both hope, and in the appreciation of today.

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