I only recently joined this community. My name is Andrew, and my wife Mandy and I have two sons, Hayden who just turned four and Cameron who just turned one. It was early this year, when we learned our nephew, Noah, had been diagnosed with a form for muscular dystrophy. To be honest, at the time, I knew nothing about it. I asked my wife how serious it was and could tell right away it was very serious. It wasn't long after that we learned it was Duchenne, and from there I was able to look it up on the Internet and learn more than I ever wanted to.
As I learned about it, and the genetics behind it, I realized our boys were at risk as well. Hayden has always been a bit slow on the physical development side of things. He didn't crawl until he was one, didn't walk until about 26 months. Cameron was only about four months old at the time, too early to see any delays. We talked to our family doctor, and he agreed to start by doing a CK test on my wife. It came back around 300 which was high but not nearly as high as her sister's which had been over 1000. We hoped this meant Mandy wasn't a carrier. However, as it wasn't conclusive, we had our doctor order CK tests for both our boys. It was about this time that we learned another nephew also had Duchenne. Two out of three children (all boys) in that family had tested positive.
It wasn't long after that we got our results. I remember very clearly my wife answering the phone and sitting there while our doctor gave her the results as gently as he could. Hayden and Cameron both had CK readings off the charts. Hayden was over 20,000 and Cameron was around 14,000. Considering the normal levels for boys were around 100, we knew what this meant. The next few months seem to be a blur. Getting appointments with the geneticist, neurologist, cardiologist, and others, both for the kids, and for Mandy. While I believe we're both dealing with it very well, my employer offered some therapy sessions with a psychologist, which we both thought couldn't hurt. It helped, and we won't hesitate to go again if we feel it would benefit us.
Since the diagnosis, we've moved back to our home town of Weyburn, Saskatchewan (Canada). It wasn't far, but we had been living in a two story home which in the coming years won't really be an option. We bought a bungalow that will need some modifications in the future, but better fits our needs. I was lucky enough to be able to keep my job and work out of a branch office. Again, my employer deserves a lot of credit here, agreeing to this under a "compassionate consideration" clause in our contract. Its nice to be back home, since we both grew up here and most of our family still lives in Weyburn.
Now, less than a year after the initial diagnosis, we live within a block of our nephews and stay in very close contact with them. Noah, the oldest of the four, has just started on deflazacort. So far the effects have been mostly positive. His parents have seen a lot of improvement in his abilities and energy levels. They've had to watch his diet, and it is noticeable in his face, but to seem him run and play with his older brother is very much worth it. So far they haven't really noticed any behavioral issues.
I've been quite anxious to start Hayden on deflazacort. In some ways it seems like he already plateauing, and that has me worried. Mandy was a little less hesitant, but after seeing Noah's improvement, she's ready to start as well. We spoke briefly with our neurologist about it, and he's hesitant to start this early. We have an appointment with the occupational and physical therapists early in the new year. If Hayden hasn't show improvement by then, we'll likely press harder. My feeling is that if we're anxious to start and the checkup shows no real improvement over the last year, he'll agree to it.
Since we feel so helpless as parents, we've decided to help raise funds. By fluke, we heard about Jesse's Journey (http://www.jesseysjourney.com
). A charity that raises money to fund research. We've been in touch with them several times and are in the beginning stages of planning a local "Walk Across Canada In a Day". This is a 33Km (20 mile) walk to raise money for the foundation. Normally its held in Ontario, but we've talked with the foundation and they're more than happy to help us organize a local walk.
Its been wonderful browsing all the information on this site. There is far more information available and far more up to date than I've been able to find even through the local Muscular Dystrophy Association. Of course, its also been wonderful reading all the comments and discussions from other parents who have been through or are going through the same stages we are.