The End of the Uncertainty

After a year of being shuffled from doctor to doctor, hospital to hospital, Ryan has finally received a diagnosis.  Ryan has a very rare genetic disorder called Miyoshi Myopathy.  This disease is a form of muscular dystrophy that is characterized by weakness in the limbs and an onset in early adulthood.  At this time there is no treatment and no cure.

In terms of prognosis, we are very lucky that there is no evidence that this form of muscular dystrophy is terminal.  Ryan will, however, lose the use of his legs as his condition continues to deteriorate.  We are praying that we still have many years before he will be completely wheelchair bound, but there is no way to know how fast or how slow the disease will progress.  It differs from patient to patient. 

This is a genetic disorder so there are concerns for the children.  Fortunately, this is a recessive disease which means both parents have to be carriers of the defect in order for the children to be at risk.  The odds are very slim that I am also a carrier, but one of our next steps will be confirm that.  If I am not a carrier, then our children are at no risk for having the disease, but they will be carriers.  

Ryan is still functioning very well.  His legs are very weak, he has difficulty on stairs and does fall at times.  He can continue to work, and even coach baseball without too much impact.  

We ask that you all think of Ryan and our family in prayer.  This has all been a lot for us to take in and there are a lot of changes in our future.  We believe that God has a plan for our lives and we pray that a treatment or even a cure are in Ryan's future.   If there is no treatment in our future, then we at least pray that the disease will progress as slowly as possible.  

If anyone has any questions, please feel free to ask, we will share any information we have.  Also, there is a foundation called the JAIN foundation (www.jain-foundation.org) that has been dedicated to discovering a cure.  They have a lot of information if you are interested in learning more.

Thank you for all your thoughts and prayers over the last year! We have a little more peace now that we know what we are dealing with!