Over the last two weeks, as people in our lives have inquired about Ryan's condition, I am starting to discover a trend. I will start spouting off about a diagnosis, a prognosis, scientific studies, etc. and many people will just stop me and ask, "So what does it all mean?!" My hope with this post is to describe a little bit about what Ryan's life will look like in light of the recent diagnosis.
Ryan has a form of Muscular Dystrophy. The disease involves the muscles in Ryan's arms and legs deteriorating at a slow progression until they are no longer able to perform the normal functions of arms and legs. Ryan's disease seems to only be affecting his legs at this stage which is great! More great news is that we were originally expecting the progression to wheelchair would be within 10 years, but now with the recent news about his specific genetic mutation, it seems Ryan is likely to have 20 years before he is completely unable to support his own weight! Might still sound depressing to some, but really good news to us!
The next question I often get is, "So what happens now?" Because there is no treatment and no cure available for this disease, there is very little for us to do. As I mentioned in the last post, Ryan's attitude will be a very important factor in determining what his future will look like. People that are able to have a positive attitude seem to have a slower progression with any type of debilitating disease. (And Ryan is handling this as well as any of us could have ever hoped!) In terms of future care, Ryan will be seen regularly by the neurology team at the University of Pennsylvania, and will check in with the team at NIH at least once a year. We have added Ryan to a list of people with similar diseases so that we will be notified if there are ever any drug trials available.
It was also recommended that Ryan continue to make some basic lifestyle changes to make his life a little easier. Just little things like avoiding stairs and uneven ground. They recommended we move to a home with single story living but we have decided to stay where we are and just make some changes to our home. We will need to renovate our bathroom in the near future because that is one place that Ryan will notice the affects of his disease before he will need assistive devices. We are told that little things like standing up from a toilet or standing for a period of time in a shower will eventually become difficult.
After going through all that, people will sort of whisper to me, "So how is Ryan doing with all this?" Ryan continues to amaze me! Ryan and I have been together for 11 years. We started dating when we were 18 and though, at the time, I would have told you we were already adults, the truth is that Ryan and I really grew up together. There are moments when I truly believe he knows me better then I know myself and vice versa. I am not ashamed to say that I was very worried that Ryan was going to take all feelings about what he is going through, bottle them up, and never want to think about it... let alone talk about it! I would have been wrong. Ryan seems to really be handling the news as well as I could have hoped. He seems to have accepted it and rather then dwelling on the diagnosis, he is living his life. That is the best possible thing he can be doing.
I truly believe Ryan's faith in God is what has helped keep him so strong. A number of years ago, Ryan got a tattoo on his arm of a cross of nails and the words Philippians 4:13 written underneath. The verse that reads, "I can do all things through Christ who strengthens me." always held a special place in Ryan's heart. It now seems clear why God would impress this verse on Ryan's heart from such a young age. God knew what Ryan's life had in store, as only He can know. I believe God has been preparing Ryan for the fight he has ahead of him, and with God's strength, Ryan will continue his fight to stand.
Friday, April 29, 2011
Wednesday, April 13, 2011
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!
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!
Friday, April 1, 2011
Home Sweet Home
When Ryan and I made our trip to NIH in January and first heard about the possibility he had Miyoshi Myopathy, we were given very few details at the time. They gave us a brief description of the symptoms and prognosis and told us the DNA tests would give us our answers. We were told that if this diagnosis was confirmed, one of the things we would need to do would be to move to a home with single story living.
After that meeting, I felt pretty confident that the DNA tests would confirm the doctors' suspicions... everything fit. In light of my assumptions, I started to think about moving because it was the only constructive thing I could do while waiting for the test results, though Ryan and I never talked about it directly.
I love our home. When we bought this house three years ago, we both assumed this would be the house we would raise our children in, the house we would grow old in. Though I knew we could "make it work" in our current home (because we have 2 bedrooms on the main floor), I was ready to pack it all up and move right away. I knew Ryan would not want to move, but I felt that Ryan would really regret it if we tried to stay and make it work here. I was picturing us in a downstairs bedroom, the children moved upstairs, and a day coming that Ryan could no longer go upstairs to tuck the kids into bed, or cuddle with them at night when they had a bad dream. I was even thinking it would bother him when it became too difficult to go up the stairs because the smoke detector needed new batteries (silly things like that).
Not knowing what our future holds, I just want things to be as easy as possible for Ryan. I had even started looking for any ranch style homes in our area, just to see if there was a chance we could stay in our community. I am the type of person that needs to charge in and "fix" things and this felt like one concrete thing I could do to help make his life easier. I was ready (and even determined) to convince Ryan that this is what would be best.
When the diagnosis came in, and we started to talk about what our future might look like, I asked Ryan to seriously consider moving, and moving soon. I explained all the reasons I was concerned, but Ryan's response was a simple "no." This is our home, the home we love, and he wanted to stay. He even said he would rather crawl up and down the stairs someday then move. It was not even open for discussion and I was so surprised to realize that I was okay with that.
I had made a plan, even started looking at houses, wanting to move as soon as possible and get settled into a new life. I usually do not handle it well when life does not follow my plan (I know, I know, gotta work on that one), but I am feeling peace about this decision. I am not sure why this is so different. Maybe because Ryan seems so sure. There is so much uncertainty in our futures, yet this is one thing Ryan can hold firm on. We can make it work here, so we will stay.
I have once again been humbled and reminded that I am not in control, God is. I seek comfort in this verse: "Trust in the Lord with all your heart and lean not on your own understanding. In all your ways acknowledge Him and He will make your paths straight." Proverbs 3:5-6
It sounds like we are going to be making some renovations so that Ryan can move through the house more comfortably as his condition develops. So for now, I will trust. I will trust that this is part of God's plan for us. This is where we will stay and where we will make our home.
General Update: We received confirmation that Ryan's next appointment at NIH will be on April 13th. He will be meeting with a physical therapist to discuss what he should and should not physically do in light of the diagnosis. Then we will be meeting with his Neurogentics team to discuss his prognosis, testing family members, and how his future care will be handled.
After that meeting, I felt pretty confident that the DNA tests would confirm the doctors' suspicions... everything fit. In light of my assumptions, I started to think about moving because it was the only constructive thing I could do while waiting for the test results, though Ryan and I never talked about it directly.
I love our home. When we bought this house three years ago, we both assumed this would be the house we would raise our children in, the house we would grow old in. Though I knew we could "make it work" in our current home (because we have 2 bedrooms on the main floor), I was ready to pack it all up and move right away. I knew Ryan would not want to move, but I felt that Ryan would really regret it if we tried to stay and make it work here. I was picturing us in a downstairs bedroom, the children moved upstairs, and a day coming that Ryan could no longer go upstairs to tuck the kids into bed, or cuddle with them at night when they had a bad dream. I was even thinking it would bother him when it became too difficult to go up the stairs because the smoke detector needed new batteries (silly things like that).
Not knowing what our future holds, I just want things to be as easy as possible for Ryan. I had even started looking for any ranch style homes in our area, just to see if there was a chance we could stay in our community. I am the type of person that needs to charge in and "fix" things and this felt like one concrete thing I could do to help make his life easier. I was ready (and even determined) to convince Ryan that this is what would be best.
When the diagnosis came in, and we started to talk about what our future might look like, I asked Ryan to seriously consider moving, and moving soon. I explained all the reasons I was concerned, but Ryan's response was a simple "no." This is our home, the home we love, and he wanted to stay. He even said he would rather crawl up and down the stairs someday then move. It was not even open for discussion and I was so surprised to realize that I was okay with that.
I had made a plan, even started looking at houses, wanting to move as soon as possible and get settled into a new life. I usually do not handle it well when life does not follow my plan (I know, I know, gotta work on that one), but I am feeling peace about this decision. I am not sure why this is so different. Maybe because Ryan seems so sure. There is so much uncertainty in our futures, yet this is one thing Ryan can hold firm on. We can make it work here, so we will stay.
I have once again been humbled and reminded that I am not in control, God is. I seek comfort in this verse: "Trust in the Lord with all your heart and lean not on your own understanding. In all your ways acknowledge Him and He will make your paths straight." Proverbs 3:5-6
It sounds like we are going to be making some renovations so that Ryan can move through the house more comfortably as his condition develops. So for now, I will trust. I will trust that this is part of God's plan for us. This is where we will stay and where we will make our home.
General Update: We received confirmation that Ryan's next appointment at NIH will be on April 13th. He will be meeting with a physical therapist to discuss what he should and should not physically do in light of the diagnosis. Then we will be meeting with his Neurogentics team to discuss his prognosis, testing family members, and how his future care will be handled.
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