Thankful for Being "Unique"

Ryan and I just got back from our follow-up visit to NIH (The National Institute of Health).  We had an opportunity to meet with Ryan's neurology team, the genetic counselor, and rehabilitation specialists.  The visit went better then we could have ever hoped and it ended up being a day that left us very thankful Ryan's case is "unique."  


As we were already aware, Ryan has a form of Limb Girdle Muscular Dystrophy.  What we were not aware of though, was that Ryan's form of this disease involves a genetic mutation that was discovered less then 2 years ago (called LGMD2L and/or MMD3).  There are very few documented cases in the world!  The reason that we are so thankful to learn that Ryan's mutation is different then expected, is because the progress of this form of the disease appears to be much slower then the more common forms of Miyoshi Myopathy. 


We were presented with a research study that recently examined 12 patients with this specific genetic mutation.  The research indicated that all 12 patients had been displaying symptoms of the disease for over 20 years, and ALL 12 patients were experiencing no arm weakness and were ALL still able to walk (with assistive devices).  This is AMAZING and UNEXPECTED news.  All the research we read about the more common forms of Miyoshi Myopathy indicated Ryan would be wheelchair bound and have weakness in his arms MUCH sooner then 20 years!! 


There are still no guarantees since this disease is so new, but the early indications are that Ryan could continue to move under his own power for much longer then we initially expected! The neurology team is also optimistic that with this unique form of the disease, Ryan may even be able to work a full career!  Because there is no treatment and no cure, Ryan's attitude will be the most important controllable factor in the progress of his disease.  He has been encouraged to keep his muscles active and his spirits high.  A positive attitude can really help keep his strength.


I would like to take this opportunity to thank all of you for your support and your prayers. We know that we have been blessed with today's news and we praise God for this blessing! Ryan's life will still be different, and at times difficult, but it is nothing he can't handle!