Changing Pictures

I sit writing this blog post in the cathedral-like kitchen of our new house. This house was on the market for a while before we bought it, and I drove past it many times and never gave it a second glance, despite the fact that we were unofficially scoping out the real estate market.

We have always lived in small houses. Small is beautiful. Our most recent home (before this one) was a tiny two bedroom that received lots of passive solar in winter, and had trees positioned just perfectly to block out the sun when the trees leafed out in spring and summer. It was small enough that one wood stove could sufficiently heat the house during most of the winter, and we rarely even turned on our energy efficient radiant floor heating system. It was tucked down a dirt road and had big windows with views of a field and woods, a big garden and plenty of space outside for our kids to play. It was getting a little cramped for four of us, which is why off and on we looked into what was on the market. We hoped to move into a slightly larger, two-story version of the same house.

If it hadn't been for Griffin and his diagnosis, we never would have looked at the house we bought. It's huge, much bigger than necessary for a family of four, and close to main roads. It's actually in a lovely scenic spot overlooking the Connecticut River, but also has a great view of I-91. It is not the kind of house I ever imagined owning. But...all of the living space is on one floor, with wide doorways that can accommodate a wheel chair. The main entry into the house is through a two car garage, and we can easily build a ramp up the one step into the entryway. And until we need the ramp, Griffin can manage one step for a while to come. There is a finished basement with a second kitchen and living space, as well as two bedrooms, so someone (for example, my mom or a live-in caregiver) can live there and help care for Griffin when his needs become more intense, or could serve as Griffin's separate living space so he can have some independence while still close enough for us to quickly and easily support him with the tasks of daily life.

Note: Thanks to my parents, without whose urging we would never have set foot in this house, and especially to my mom who made this picture a reality.

Our home is just one of the many images of the future Brian and I have had to change. Until a year and a half ago, we imagined a future with two healthy, strong sons. This was a painful image to have to change, but with time we can adjust to our new future. As time goes on, other images have had to change. I always thought Griffin would be tall, like his grandpa Gregg. But a combination of the corticosteroids he has to take to maintain his strength longer and the disease itself will most certainly stunt his growth. If he has to take this medicine for many years because nothing better comes along, he will be lucky to be five feet tall. But, small is beautiful, right? His smaller stature will mean his muscles can keep him walking and moving and his heart beating longer than they would have otherwise.

As we move further forward in time, some of the initial images I had of the future when he was first diagnosed have continued to change. I was devastated and kept awake at night by visions of him in a wheel chair, attached to a ventilator, unable to move a muscle. Of sitting shell-shocked at his funeral not so many (not enough) years from now. Since then, I have learned about all the hope there is for him. I have seen multiple videos of boys with his disease participating in clinical trials, walking unaided and at a normal pace at 13, 14, 15 years old, bounding up a hill like a healthy child at 9 and 10. These drugs are working. I feel like I am witness to a literal miracle, though I know it is decades of research, millions of dollars and the unbreakable hope and dogged perseverance of thousands of parents and their doctors that has made this possible.

In the past month, and for the first time ever, three different companies have submitted New Drug Applications for drugs to treat DMD. Two are exon skippers that "skip" over the broken part of the gene, allowing it to produce a smaller but still functional dystrophin protein, essentially turning Duchenne Muscular Dystrophy into its milder cousin Becker Muscular Dystrophy. It's not a cure, but it is leagues beyond anything else we have so far. Another drug slows or stops the progression of pulmonary decline. Others in trials replace the missing dystrophin with another protein that serves the same purpose, slow or stop cardiomyopathy, stop the cycle of fibrosis and inflammation that lead to the symptoms of the disease, increase the presence of other proteins and enzymes that can counter symptoms, and coming up behind these are genome editors. Genome editors. Researchers now have the capability to fix the mutation at the DNA level. That, my friends, will cure DMD.

So for now, my pictures of the future remain fuzzy. I don't know how long Griffin will be with us, but I can reasonably hope he will graduate from high school, go on to college, get a job and be an adult. He may well be among the first generation of children with DMD to walk into their twenties, breathe into their thirties or forties, and live into their sixties. It's nowhere near the future I imagined for him when he was a baby, but then again, what child grows up to embody all of their parents hopes and expectations? It may still seem like a bleak future to a parent of a healthy child (I mean, most of us hope and expect our children to breathe on their own until their very last breath at a ripe old age), but I will take it, and I plan to soak up and appreciate every moment of it so much more than I ever would have before.

When we first got married, Brian and I had a conversation about his daredevil inclinations. During this conversation he said, "I'm not an idiot, I'm not going to go try to climb Mount Everest or anything!" Never say never. Another picture to change. Along with other parents and compassionate daredevils, Brian is currently planning a trek to Mount Everest Base Camp (OK...I may have led you to believe he planned to summit it, but, like he said, he's not an idiot). The trek is symbolic for the parents on the team, who are taking a long, difficult walk in support of their children who have a lifetime of hard walking to do, but it is also a fundraiser for the Hope for Gus foundation. Hope for Gus will donate every cent of the proceeds of this expedition into the most promising clinical trials for DMD. I end this blog post with a shameless plug: I hope you will consider a donation, however small, to support Brian in this huge and life-changing undertaking. You just might be participating in the making of a miracle. Help us change the picture of the future for children with DMD.

Brian Goes to Everest to End Duchenne