It's a Good Thing I'm Rugged

Last month, my paternal grandfather passed away at almost 89 years of age. We will miss him terribly, but my family members can all agree he was ready to go. He dearly missed my grandmother, who passed away several years ago, he had diabetes, he was rapidly losing his eyesight and was beginning to have some trouble walking. For the past few years, he had been walking to the Senior Center down the road most days to play card games with his buddies and have lunch. I am told that the day he died was the first day that he had to have someone drive him to the Senior Center. It was the first day he felt he could not walk there on his own. His last little bit of independence was gone. As he was leaving the Senior Center that day, someone asked him why he wasn't staying for lunch. "I have a friend coming to visit," he replied, "I am going to go home and whoop it up!" At that moment, his heart stopped beating. I must say, those have got to be the best last words ever spoken. "I'm going to go whoop it up." My dad says my grandfather would have paid extra for that death.

During his final years, if asked how he was, he would sometimes list his ailments and then add, "but I'm OK. It's a good thing I'm rugged." It was a way of letting people know that despite the difficulties life presented him with on a daily basis, he was hanging in there. Since Griffin's diagnosis, I have been borrowing this phrase. I don't think I've ever said it out loud, but sometimes when I'm feeling particularly sorry for myself, I find myself listing all of my woes in my head. And then I think: It's a good thing I'm rugged.

"God only gives us what we can handle." I have been told this many times over the past few months, and I must tell you something doesn't feel right about that. It feels a little dismissive, like I should just put a smile on my face and charge forward, knowing God won't give me any more than I can handle, even though the truth is I don't have a clue how I will "handle" the painful and difficult challenges that lie ahead. Perhaps I should feel complimented that God thinks I'm such a badass. I'm not so sure. I like "It's a good thing I'm rugged" better because it allows me to acknowledge all the things that are so painful and unfair about this circumstance, while at the same time reminding me that no matter what happens, I'll make it through it.

Sometimes, I can almost forget. Occasionally, several days go by when I really don't worry or feel sad at all. I manage to live in the moment and not think about what the future will hold, or just assume that it won't be so bad. Maybe it is that spring is finally here, and everything seems better in the warm sun that promises an end to the long darkness of this difficult winter. Maybe it is that I have actually succeeded in adjusting my expectations of the future to include a child with a debilitating and ultimately fatal disease. Or maybe I have reached the stage of complete denial.

Another parent recently confided that sometimes she pretends her boys don't have DMD. They are still young and strong, so some days, she just imagines they are healthy. "Am I crazy?" she wondered. No, on the contrary, she is doing her best to stay sane. We all need a break from this sometimes. If pretending your child is healthy allows you some moments of happiness and serenity, then do it. Not all the time, but sometimes. Perhaps that doesn't make sense unless you have lived it. But no parent can withstand the prospect of a child becoming slowly immobilized and then dying without cracking up or falling into deep depression unless he or she sometimes pretends it is all OK, or believes that a cure will be found, or a miracle will happen.

Griffin makes it easy for me right now. He is the strongest he has ever been. He can walk farther and faster than ever before. He is having an easier time getting up from the floor. He can pedal a bike (!). He can stand on one foot. He can skip. He is in a grace period of gaining strength that some boys with DMD experience, when their natural growth and development overtakes the disease. In addition, he is growing up. He is becoming an articulate, imaginative and considerate person. Sometimes, I can see a glimmer of the young man he will one day be. I can sometimes forget that that young man, in addition to being articulate, imaginative and considerate, will also be immobile. In fact, I can't even imagine it, because right now, he is anything but. He is as busy and active as any five-year-old.

But sometimes, in the quiet moments, lying awake at night, I can't stop terrifying images of the future from filling my head and making it hard to breathe. Some mornings I wake up sad and feel like nothing can fix this. Nothing will ever make the world right again. At those moments, I can almost hear my grandfather's voice saying, "Hang in there, kid. You're pretty rugged." And I can hold my head up again, and look forward to another day whooping it up with one of the most amazing kids I have ever met.

Will You Carry This For Me?

When I was in junior high and high school, I put in a solid effort to play sports. I really tried. I tried tennis, basketball, softball, cross-country. I had a few moments of glory in each of these sports, but mostly I just sucked at them. There is more than one reason for this. I was stressed out by the competition. I was easily overwhelmed by the pressure. I would go blank and forget what I was supposed to do. But I also could never keep up. I fatigued more quickly than my teammates. I got yelled at by my coaches for stopping to catch my breath too much. I was constantly being told I wasn't trying hard enough, that I wasn't giving it my all. I guess I assumed this was true, and maybe sometimes it was. But I felt like I would regularly push myself to the limit and it still wasn't good enough. Up until I started running cross country as a sophomore in high school, I just chalked it up to the pressure of competition. I just wasn't cut out for organized sports. Cross-country, I thought, would work for me. But I still sucked. I went to practice every day and ran as well as I could. I ran on the weekends. I did everything everyone else did. I wasn't sedentary, I wasn't particularly out of shape. Despite my best efforts, though, it was never enough. It took everything I had not to come in last in every race.

As we recently discovered, I carry the same mutation in the dystrophin gene on one of my X chromosomes that Griffin has. Carrier females are protected from muscle damage by the dystrophin coded for by the second, healthy X (males have an X and a Y and so have no back-up if they receive a mutated X). Nature abhors waste as much as it does a vacuum, so in females, each cell randomly chooses one X to use and turns off the other. Each skeletal and cardiac muscle cell in my body decided randomly which X it would use and had a 50/50 chance of inactivating the healthy or the mutated X. In  most girls, at least half of the cells wind up with the healthy X, which is enough to prevent symptoms. This doesn't always happen, and sometimes girls can end up with symptoms or even the full blown disease if the balance is tipped more toward the mutated X.

Since I am a carrier, I have a higher risk of cardiomyopathy than the average person (since some of my cardiac muscle might be making do without dystrophin) and so I had the pleasure of spending a morning at the hospital getting blood tests and an echocardiogram and an EKG. Good news is, my heart is just fine. However, during my visit with the cardiologist, he asked me if I experienced any muscle weakness. I said I didn't think so. Perhaps my response wasn't convincing, because then it was as if he read my mind. He said, "so, when you were growing up, no one was ever like 'oh, that's just Maggie, she's always last'?" I cringed. That is exactly what everyone was like. In college, I did an off-campus program that involved a lot of hiking and physically active outdoor adventure type activities. It was such a running joke among my co-participants that it became a slogan: "Always Waiting for Maggs." In graduate school, I had long since given up running as a sport, but would go jogging with friends who theoretically were in no better shape than I was. They would try to run alongside me for a while, but would inevitably wind up several yards ahead of me, yelling their half of the conversation back to me over their shoulders, eventually disappearing around the next corner. It was frustrating, but I just figured I was a wimp.

I'd be remiss if I didn't mention that I also have some time management issues that have played into my reputation for always being last, but the truth is I have been a few steps behind everyone else my entire life. It is so ingrained I just take it for granted. It never even occurred to me to wonder why.

Based on this mildly embarrassing account of my childhood and early adulthood, the cardiologist added a CK level check to my labs. Creatine Kinase, if you recall, is an enzyme released by muscles when they are being damaged. It came back elevated. It wasn't grossly elevated the way Griffin's is, but it was higher than normal. I am now part of a small club of women called "manifesting carriers." Suddenly, it all makes sense.

Since I am a carrier, this means my mother and both of my sisters might also be. My littlest sister was most concerned about this since she just got married and is beginning to think about starting a family. If she is a carrier, this complicates things as far as having children goes. Her best bet, if she is a carrier, is to use IVF and select the embryos without the mutation to be implanted. Price tag: $20,000. Insurance doesn't cover it. She could also go the old-fashioned route and hope for the best. Amniocentesis can be used to check for the mutation at about 12 weeks. Then it is a 3-4 week wait for results. Then a heartbreaking, gut-wrenching decision will have to be made if the baby tests positive. If you have ever had a child, you know that 16 weeks is far too long to wait for that kind of decision. So she was the most anxious to find out about her carrier status and immediately made an appointment with a genetic counselor for testing. Happily, she is not a carrier, so no difficult decisions need to be made and we can all sit back, relax and wait for more babies to snuggle.

We don't know yet about my mom or my other sister, so the waiting continues...