I’d like to say this has “been one of those days”, but if the truth be known it’s more like one of those years. Life for families affected by Duchenne muscular dystrophy, I have to guess like life for most other people, has its share of ups and downs. The difference for those living with Duchenne is that it seems once you begin to feel some stability in your life the proverbial rug gets pulled from beneath your feet and reality not only comes crashing down, but it comes in a different form that takes much adjustment.
For me the cruelty of Duchenne is more than the physical strength stolen from my sons; it is exacerbated by how it happens disproportionately. There are days I ponder whether it is worse to lose the ability to walk at age eight rather suddenly and before realizing what happened or at thirteen after gaining much independence only to lose it all. I read parents’ queries on message boards and FaceBook asking other parents of boys with the same deletion or at the same stage in the progression of the disorder for advice or as a way to compare their son to some standard. We’re all trying to figure out this condition and prepare ourselves for what may happen next. Unfortunately there is such variability in the progression of Duchenne that so often little appears to apply. It’s no wonder clinical trials endpoints seem to be a moving target making validation a challenge. Fifteen years after diagnosis and I’m as sure of what I don’t know as ever.
I’ve always found Matthew to be patient, able to accept changes with grace and courage. Patrick is more tenacious, the type of boy who dares you to say “you can’t”, because he will. Of course neither has a choice in the progression of DMD and it may be a situation of “chicken and egg” when looking at disease course and how they cope. It often becomes a question of what aspect drove which behavior or vice versa. The blessings for my family have been in my sons’ ability to adapt to their individual circumstances and make the best of things. They are both good students, have many friends, although as they get older it is more difficult to get those same friends to visit or find a way to include my sons. So far Alice and I have been able to navigate the hurdles thrown at us by Duchenne.
These days, things are getting tricky. Matthew recently confided in me his fears of his cardiac function, or should I say dysfunction. The cycle in his progression has been fairly consistent. He’ll be stable for some time, have a major decline, and then plateau for a while. Things were somewhat tolerable until we graduated from simple physical loss to respiratory and cardiac issues. We survived sleep studies and Matthew needing Bi-Pap at night. Now that we face matters of the heart, we’re all less certain. There are more issues driving his concern, so Alice and I need to drill down more to learn what else is bothering him and work on that. School, girls and friends add other layers to the stress he doesn’t need.
From the onset of our sons’ diagnosis Alice and I answered their questions honestly and to their satisfaction. Common sense dictated keeping our responses age appropriate (Sort of like talking to your kids about sex; you only give out so much information at once.), but when Matthew or Patrick wanted to know something we thought it best to give our sons straight answers. At an early age they had access to the internet which served as an additional resource to my sons’ curiosity. By their early teen years I’m certain they knew more about Duchenne than most doctors. We’re now at a point in their lives, especially Matthew’s, where there are gaps in that information. The questions are more intense and the answers are not as complete or satisfactory.
That leaves us in a precarious situation. I believe in highlighting the positives and downplaying the negatives, yet there are times when this isn’t right. I know with proper care and aggressive interventions we’ll buy more time. The trick is not overselling this or fooling ourselves about the limitations and making sure we all have accurate information. In the past our sons rarely spoke with their doctors, yet they need the option to talk openly and as needed privately with their physicians about their health and care. Again, we’ve not been secretive with our sons, but because we manage their care it is necessary for Alice and me to be more involved and in the past this was sometimes overlooked. My sons are young adults and should have the freedom to ask questions about their health and treatment without worrying what mom or dad might think. The balance is not ceding all responsibility to discuss the difficult issues with their physicians, but ensuring we all understand the options including benefits, risks, side effects and the reality of how effective a treatment will actually be then discussing this together. Besides, they are taking all the risks and should have some say whether or not it is personally worth it.
I recently took Matthew to his final visit to Johns Hopkins as part of the REVERSE DMD Trial which is looking at the use of sildenafil to bolster heart function. After Matthew’s tests were completed I asked if the cardiologist who is one of the principle investigators would speak with Matthew. Dr. Judge spent a great deal of time explaining heart failure in DMD and treatment options including the realities of the risks, limitations and benefits of medication and devices in a calm and disciplined manner to Matthew and me. No sugar coating, just the facts. I was happy that Matthew asked questions concerning things he had read or had been told. Dr. Judge didn’t rush and explained things to Matthew’s satisfaction. This is what Alice and I have always done and it reassuring hearing a medical professional use the same technique we believe appropriate when talking about serious issues with our sons.
Should our frank discussions fail to quell Matthew’s angst about his condition there are others to whom we’ll turn. Knowing when someone needs additional help isn’t easy. Discussing serious medical problems is one thing, yet we also must consider avoiding or combating depression, the effects of social isolation, talking about end of life intervention options and living wills and advanced directives. We’ve already talked about advanced medical directives. I’m glad that conversation preceded this current situation and is in place. Matthew doesn’t think he needs to speak with a counselor, but we’ll keep all options open.
I know we’ll get through this new “test”. It’s not our first day at the rodeo, although this horse is harder to figure out. Over time my decisions have changed to reflect my sons’ needs, in part because we talk more openly, yet also because they are adults and are now assuming adult responsibilities. It doesn’t always make things easier, nor do I always agree. This is the least I can do for them. Sharing their burden is one thing, but telling them what to feel or how to decide is another. That is not an option. They have DMD, but they also have the right to be treated with respect and allowed to make important decision as they see fit. So, we’ll stick to being open with our sons knowing future questions and concerns won’t get any easier. With a bit of luck I’ll get better helping them along the way and we’ll all make it through another day.