It's the Best of Times, It's the Worst of Times

Summer is here, and it has been a busy, sweaty, dirty, sandy, wet and sunny adventure so far. Both of my boys play hard outside and summer is the time for playing hard outside.

I always love summer, but this one in particular seems so sweet. I think having a child diagnosed with a fatal disease is right up on the top ten list of worst things that can happen to a person. I used to wonder how parents with very sick children coped, and wasn't sure how I would if it ever happened to me. It is just as awful as I imagined, but I had no idea that it could also bring the good things in life into sharp focus. It's the best of times and the worst of times all at once. I've said it before and I'll say it again now: life has actually gotten more fun since Griffin's diagnosis. It has also gotten more stressful, and more challenging as we navigate doctor's appointments, PT and OT sessions, EIP meetings, attempt to wrap our minds around drug trials and possible treatments, and work with his doctors to find the best treatment plan for him. Not all boys with DMD progress the same way, and the benefits and consequences of each potential treatment have to be studied and weighed. No one knows exactly why each boy is different…some may regenerate muscle more easily or more quickly (or more slowly), others may up-regulate other proteins that can help substitute temporarily for the lack of dystrophin (or not), others may actually be able to produce a tiny bit of dystrophin (or not). Complicating this further is that no one really knows if the specific mutation a boy has can in any way predict his progression. It seems some mutations can protect against heart damage, while others result in early cardiomyopathy. Others are more likely to result in significant cognitive changes, while some seem to have no effect on cognitive function at all. A study recently came out that seems to show that boys with a very specific type of mutation progress markedly more slowly, despite a complete lack of dystrophin. Surprise! As soon as we think we know something about this disease, research uncovers something new that throws it all on its head.

Some of this is because until recently, not much research on DMD had been conducted. I think researchers felt that it was such a rare disease, a cure was a long way off, and there was no effective treatment available, so why bother researching? There is nothing to be done for them. Their lives are over before they start. Sad, but what can we do? Better to spend research dollars on a more common disease that can actually be cured or treated. Now, suddenly, a cure seems like a real possibility, shining like a beacon. Still distant, still blinking off and on, but there, beckoning. It is there, it's just a matter of time, large quantities of money and focused, determined effort. A flurry of research is being done all at once, and it seems the more we learn the less we know. Eventually, it will all be figured out, and fifty years from now, boys will no longer receive a death sentence with a DMD diagnosis. They will go home with some PT exercises and a long list of prescriptions and go on with their lives. Will something come along in time for Griffin? Quite possibly, but quite possibly not.

It's a lot to reckon with as a parent. In the midst of all this uncertainty and confusion, though, there is a real shift in priorities for the better. We are savoring the sweetness life has to offer and brushing off the random difficulties. Little things that go wrong just don't seem very important anymore. A day spent playing at the beach in the sun seems like a treasure, something to savor. Life has become more about staying in the moment and making the most of each day, and less about getting through a difficult day so we can move on to a better one. Each day is a gift, no matter what it holds. Each sunrise is a new opportunity for finding the good in life, and soaking it up like a sponge.

I spent the first six months post-diagnosis in a state of flux between utter hopelessness and utter hopefulness. I poured my energy into researching promising clinical trials, doing what I could to help raise funds and awareness for the organizations doing the most to help, obsessing over Griffin's "milder" symptoms and what this might mean for his progression. "He is young enough to benefit from drugs in development. It will happen for him. He is part of the first generation of boys to be rescued from this disease. His symptoms are mild, he will do better than the norm. He might even have Becker MD, a milder form of the disease. Maybe he will be OK." These were the stories I told myself. And it may turn out that they are all true, or at least some of them might be. But what if it doesn't? What if I am kidding myself, thinking his story will be different? I can feel a shift happening within me. Lately, I am having more and more trouble convincing myself that a good treatment is on the horizon and will be here in time for him, and my initial conviction that he was going to progress slowly is eroding. Nothing has changed, he's still doing fine and still gaining strength. But six months into the diagnosis, the picture of the future that I painted for myself because I had to paint it in order to make it through those impossible first days is peeling away and revealing other potential futures hiding beneath. I know I need to find a way to be at peace with whatever is coming. I still need to feel hope, and woe to the person who tries to take my hope away from me (no, there are not hope stealing monsters out to get me, but well-meaning comments like "you shouldn't get your hopes up too much" are like a punch in the gut…you try having a child diagnosed with a fatal illness and not get your hopes up when there is a promising clinical trial going on!), but I also know that Griffin will be best served by taking each day as it comes, crossing whatever bridges need crossing when we get to them, and having realistic expectations of what his future needs will be. I can feel the franticness of the first post-diagnosis months starting to subside, and a "settling" beginning. It hasn't been easy to transition from assuming the best to making room for the worst, but it is necessary, and in the long run, it is good. This could be Griffin's strongest and healthiest summer ever. How awful, right? Or: this could be Griffin's strongest and healthiest summer ever! How awesome! I'm doing my best to choose the latter.