The logo above is unknown outside of a small group of people in the world.
Every day in America around 17,000 households wake up with an uncommon object: they need to stop time. Because time will take another day in the life of one or more of their sons, and ultimately it will take the life of their sons.
These are the parents of boys with Duchenne Muscular Dystrophy (DMD), a genetic defect that prevents a victim from producing the protein dystrophin, the largest protein in the human body, and a critical component of muscle. Without dystrophin the normal capacity of the human body to regenerate lean muscle will go horribly wrong, and in its place the body will form dysfunctional fibrotic or scar tissues. By the age of ten these boys will lose the ability to walk, by twenty the ability to breathe, and then their hearts will lose the ability to beat. It is estimated that a single parent is raising over 90% of all boys with DMD, as the practical effects of care for an incapacitating disability are punishing, both financially and emotionally.
Most seven-year-old boys with DMD have already lost the ability to run or climb stairs, but they do have 1000 more days with the ability to walk. With the sand through his hourglass rushing, each of these days is an opportunity for a parent to create a memory. The boy is unaware of the time he has left, or the path it will take. To a certain extent, so are his parents.
After the DMD diagnosis, a parent’s first question is: can anything be done? The answer is yes and the next question is: who is doing what can be done and when will it be done? It is a race against time.
At this point, the parent learns that resources for disease therapies are based upon various imperatives, among them the size of the patient population. Logically those resources are aimed toward large disease populations. By definition orphan diseases such as DMD have a patient population of fewer than 250,000 in the US. There are reported to be 6,000 orphan diseases. But few are as lethal and as unforgiving as Duchenne. To encourage the development of therapies for an orphan disease, the government now grants an additional seven years to the owner of a patent that is a potential therapy for such a disease. Such are the incentives intended to turn the commercial interests of our society to orphan disease. However bringing a new drug to market costs pharmaceutical companies upwards of $500 million. There is no assurance that even if research indicated a therapy was possible, that it would be pursued by a commercial interest. No responsible parent could surrender the fate of their child to such caprice.
But what are the options in confronting a really tough disease? DMD is a disease that is genetic and affects almost every cell in a human body. It is one that represents chemical, biological and mechanical deficits expressed in many cellular pathways, in a cascade of injury to the entire person. It is a disease in which a true cure would have to restore the ability of a cell to manufacture the body’s largest protein. As daunting as that may sound, there are potential mitigations. Children are born without dystrophin but they have other proteins that (if activated) could supply some of the dystrophin functions. Aspects of the pathways affected by the absence of dystrophin can potentially be restored by other means and ironically, the more potential therapies, the more drain on finite research resources and funds.
To reach effective outcomes the force of discovery must overcome the mass of the unknown. Viewed through the lens of a parent’s responsibility to their child, if there is a way it can be done, it must be done.
The Duchenne Alliance represents the collaboration of over 35 foundations on four continents with a shared commitment to urgently find new therapies for DMD. That is, to change the speed of research, development and clinical trials. To accelerate communication, funding and collaboration, the Alliance has created their own internet based “Dashboard” that allows the posting and evaluation and potential funding of medical research and clinical trials. In combination they participate in or support more than an estimated 100 individual research and clinical initiatives around the world. The Alliance works with the belief that collaboration among the initiatives will accelerate discovery and their individual paths will preserve broad, unrestricted and uncompromised investigation. They value the freedom to experiment, to be wrong, to learn from failure, and to fail fast. Like the discovery of the New World under sail, they view discovery as the province of many ships, on many paths.
Moreover, they know that in existing research are potential therapies already known to make improvements to the boy’s cellular functions. These outcomes would not individually represent dramatic changes, but they would make significant improvements. The foundations of the Alliance believe that research has now identified therapeutic pathways and interventions with a significant potential to mitigate the worst injuries of DMD and that possibility makes concerted action even more urgent. The foundations of the Alliance recognize and honor the accomplishments of the many researchers and organizations that have worked for better therapy and care of DMD boys. They will continue to support all of those efforts
Long ago the ancient mariners anticipated finding new worlds through their will to sail over the horizon. Horizons are but the limits of sight, not the limits of possibilities. The Duchenne Alliance is the commitment of parents to make that journey for these boys. Success is far beyond the means of the individual parents to achieve. This is a call to action for people and institutions that understand why the Alliance came into being, and why its path is essential.
The Alliance is the bond of DMD parents to care for the boys before any other interest. They are committed to beat time. Please consider support for any foundation member or through the Duchenne Alliance itself, it will make a difference.
(Christopher and Danielle James are the parents of Matthew, a six-year-old boy with DMD and his three older brothers. In 2009 they founded RaceMD, a non-profit dedicated to finding intermediate therapies for DMD. They gratefully acknowledge the public service of LAX Magazine in donating space for this opinion. The views expressed are those of the authors and do not represent those of any other institution or foundation).