We received our diagnosis two weeks ago and I consider our entire family to have just embarked on a new journey together. I have created this blog to chronicle the joys, trials, and tribulations of that journey. Whether this blog ends up being used for self-therapy, inspiration, or just information dissemination, I think it will help.
I will do my best over the upcoming weeks, months, and years, to use this blog to update our friends and family on Ryan's condition. It's funny, part of me is really hoping I won't have much to say. I am hoping that there aren't many changes in Ryan's condition and that we have a lot of healthy years ahead of us. The other part of me is praying there are many, many medical advances in the near future that will change Ryan's prognosis and give me LOTS to talk about!
My hope for myself, as I write this, is that I DO NOT use this as a place to whine. There are MANY in this world that have it WAY worse then us. I hope this becomes a platform to praise God, acknowledge His plan, and grow closer to the woman He intended me to be.
This is where our journey has taken us to date...
We are waiting for confirmation from NIH (The National Institute of Health) and the team of Neurogeneticists there as to when we can travel back down there for a post-diagnosis follow-up. Ryan received the news over the phone and we are waiting to sit down with the experts and have the "What does this really mean" conversation. We are hoping to be seen in the middle of April. At that visit, we will discuss the specifics of his prognosis like how much time he likely has at his current strength level, what lifestyle changes we need to anticipate, and how to find out if this disease has affected other family members like his sister and our children.
We will keep everyone posted!
Wednesday, March 23, 2011
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!
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