1997 may not seem so long ago, but at times it feels like half a lifetime to me. That was the year my family learned Matthew’s motor difficulties were something physical therapy could not correct and the first time we heard the word Duchenne. Everyone’s world changes after diagnosis of a devastating chronic illness and over the years my family and I experienced many transformations and realignments. To say 1997 was a time of little hope is an understatement. Therapies for Duchenne muscular dystrophy were primarily focused on monitoring the progression of loss of function and research appeared to be looking towards ‘rocket science’ based therapies that might be ready in some very distant tomorrow.
When we entered the world of Duchenne muscular dystrophy, pharmaceutical companies didn’t have a strong interest in muscle and biotechs were typically associated with AIDS or cancer related treatments. Fast forward to 2012 and things are very different. There are more clinical studies and trials focused on Duchenne today than the ‘hits’ I found searching Duchenne on Yahoo at the time of Matthew’s diagnosis. Drug developers, both large and small, have recognized the market potential for rare disorders like Duchenne muscular dystrophy. Today there are a variety of therapeutic approaches in the clinical trial process and more being considered holding much promise both for specific mutations as well as broad, cross mutation therapies.
For some it may appear these advances came quickly, but in reality it has been a long slog with many more disappointments than glimmers of hope. Today the community is poised for that something that leads to the success we ‘know’ is coming and will provide real patient benefit as well as attract greater interest to the field of muscle research. I share that enthusiasm and optimism without reservation. Having been involved in many Duchenne muscular dystrophy programs including being able to attend research conferences, I believe the headlines of promise are finally more suitable. Even in today’s environment progress isn’t moving fast enough.
I don’t have illusions that scientists will achieve a cure for Duchenne anytime soon. Instead, I expect a series of drugs will enter the market that both individually and used with other new or existing drugs slow progression, allow for the development of healthier muscle and preserve function. The concept of personalized medical care is more the use of a number of drugs and therapies that provide a more robust benefit to patients based on what works for them. Others consider this a “complimentary approach”. No matter what you call it, the idea that a person may soon be able to treat Duchenne as a chronic condition more similar to diabetes is in itself revolutionary.
Another side of this discussion relates to which patients will receive immediate or greater benefit from newly approved drugs. These inequities will prove as much a challenge to the Duchenne community as the actual waiting for approvals while the process advances. I am fully aware that some approaches will help individuals with certain mutations or younger patients significantly more than those who are older because of the dramatic difference in healthy muscle each retains. Even my two sons may see a stark difference in benefit as Matthew is physically more affected than Patrick. Until muscle regeneration becomes part of the therapy this will be commonplace. As a community we can rally around our successes and those receiving the benefit or sit on the sidelines angry and feeling alienated.
Over time my family and I learned to cope with the regular changes and challenges Duchenne has brought. We worked hard to keep Matthew and Patrick walking, promoted independence as they lost functional ability and never settled for the status quo. I’ve supported research including raising money and participating in advocacy activities that directed resources to expanding research efforts. I have taken great pride in how my wife and I raised our sons who break new ground along with many other young men who push the possibilities of the things they are able to accomplish in spite of being affected by Duchenne. I know other families with younger sons who continue to raise those expectations seeing older patients as an inspiration and example. It isn’t easy urging a child to work harder or look further into the future when you’re unsure of what tomorrow will bring, but it’s the only way I know.
We are part of a community in which we have opportunities to learn much from one another as well as from our sons. I hope those lessons help us as we navigate through a time of imbalances in which some may benefit more from a new drug or therapy while others do not. Abraham Lincoln wrote about how “A house divided against itself cannot stand”. As a community tied together by Duchenne, families need to remain focused on the day when all receive optimal benefit from research and the promises it holds.
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